Anemia resultante de insuficiência da medula óssea (medula óssea aplásica ou hipoplásica). A produção de eritroblastos e glóbulos vermelhos está acentuadamente diminuída e também pode estar associada à diminuição da produção de granulócitos (granulocitopenia) e plaquetas (trombocitopenia). A anemia aplástica pode ser idiopática ou secundária devido a danos na medula óssea por toxinas, radiação ou fatores imunológicos.
Introdução
O que você precisa saber de cara
A anemia aplásica rara é uma condição na qual a medula óssea diminui ou interrompe a produção de células do sangue essenciais para o organismo. Ela pode acontecer por motivos desconhecidos, falhas no sistema imunológico ou após contato com produtos tóxicos e radiação. Além da fraqueza provocada pela anemia, algumas pessoas podem apresentar alterações de crescimento ou malformações nos ossos e órgãos. No Brasil, a condição não está incluída na lista oficial de diretrizes de doenças raras do SUS, demandando acompanhamento especializado na rede hospitalar.
Anemia resultante de insuficiência da medula óssea (medula óssea aplásica ou hipoplásica). A produção de eritroblastos e glóbulos vermelhos está acentuadamente diminuída e também pode estar associada à diminuição da produção de granulócitos (granulocitopenia) e plaquetas (trombocitopenia). A anemia aplástica pode ser idiopática ou secundária devido a danos na medula óssea por toxinas, radiação ou fatores imunológicos.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 178 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 445 características clínicas mais associadas, ordenadas por frequência.
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
64 genes identificados com associação a esta condição.
Curadoria gene-doença
fontes oficiaisShwachman-Diamond syndrome 1
A form of Shwachman-Diamond syndrome, a disorder characterized by hematopoietic abnormalities, exocrine pancreatic dysfunction, and skeletal dysplasia. Intermittent or chronic neutropenia is the most common hematological manifestation, followed by anemia and thrombocytopenia. Some patients progress to bone marrow failure, myelodysplastic syndrome and malignant transformation, with acute myelogenous leukemia being the most common. Exocrine pancreatic dysfunction is generally the first presenting symptom in infancy. Short stature and metaphyseal dysplasia are the most frequent skeletal manifestations. SDS1 inheritance is autosomal recessive.
Diamond-Blackfan anemia 19
A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. DBA19 inheritance is autosomal dominant.
Bone marrow failure syndrome 2
An autosomal recessive disorder characterized by trilineage bone marrow failure, bone marrow hypocellularity, learning difficulties, and microcephaly. Insufficient hematopoiesis results in peripheral blood cytopenias, affecting myeloid, erythroid and megakaryocyte lines. Cutaneous features and increased chromosome breakage are not features.
Breast cancer
A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case.
Fanconi anemia, complementation group W
A form of Fanconi anemia, a disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.
Amegakaryocytic thrombocytopenia, congenital, 1
An autosomal recessive form of congenital amegakaryocytic thrombocytopenia, a hematologic disorder characterized by severe reduction of megakaryocytes and platelets at birth, and evolving into generalized bone marrow aplasia during childhood.
Fanconi anemia, complementation group V
A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.
Fanconi anemia, complementation group U
A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.
Diamond-Blackfan anemia 13
An autosomal dominant form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies.
Breast cancer
A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case.
Diamond-Blackfan anemia 11
An autosomal dominant form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies.
Nijmegen breakage syndrome
A disorder characterized by chromosomal instability, radiation sensitivity, microcephaly, growth retardation, immunodeficiency and predisposition to cancer, particularly to lymphoid malignancies.
Fanconi anemia complementation group O
A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.
Fanconi anemia complementation group F
A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.
Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome
An autosomal recessive, systemic necrotizing vasculitis that affects medium and small arteries. The ensuing tissue ischemia can affect any organ, including the skin, musculoskeletal system, kidneys, gastrointestinal tract, and the cardiovascular and nervous systems. Organ involvement and disease severity are highly variable. Clinical features include recurrent ischemic stroke affecting the small vessels of the brain and resulting in neurologic dysfunction, recurrent fever, myalgias, livedoid rash, gastrointestinal pain and hepatosplenomegaly.
Diamond-Blackfan anemia 18
A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. DBA18 inheritance is autosomal dominant.
Xeroderma pigmentosum complementation group F
An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. XP-F patients show a mild phenotype.
Diamond-Blackfan anemia 17
An autosomal dominant form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies.
Fanconi anemia complementation group D2
A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.
Diamond-Blackfan anemia 12
An autosomal dominant form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies.
Multiple congenital anomalies-hypotonia-seizures syndrome 3
An autosomal recessive syndrome characterized by distinct facial features, intellectual disability, hypotonia and seizures, in combination with abnormal skeletal, endocrine, and ophthalmologic findings including impaired vision, as well as abnormal motility of the eyes.
Diamond-Blackfan anemia 21
An autosomal recessive form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. DBA21 patients manifest bone marrow failure, short stature, facial and acromelic dysmorphic features, and intellectual disability.
Diamond-Blackfan anemia 10
An autosomal dominant form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies.
Breast cancer
A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case.
Breast cancer
A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case.
Diamond-Blackfan anemia 8
An autosomal dominant form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies.
Celiac disease 13
A multifactorial, chronic disorder of the small intestine caused by intolerance to gluten. It is characterized by immune-mediated enteropathy associated with failed intestinal absorption, and malnutrition. In predisposed individuals, the ingestion of gluten-containing food such as wheat and rye induces a flat jejunal mucosa with infiltration of lymphocytes.
Fanconi anemia complementation group T
A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.
Diamond-Blackfan anemia 3
An autosomal dominant form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of developing leukemia. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies.
Paroxysmal nocturnal hemoglobinuria 1
A disorder characterized by hemolytic anemia with hemoglobinuria, thromboses in large vessels, and a deficiency in hematopoiesis. Red blood cell breakdown with release of hemoglobin into the urine is manifested most prominently by dark-colored urine in the morning.
Diamond-Blackfan anemia 6
An autosomal dominant form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies.
Diamond-Blackfan anemia 14, with mandibulofacial dysostosis
An X-linked recessive form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies.
Fanconi anemia complementation group L
A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.
Diamond-Blackfan anemia 9
An autosomal dominant form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies.
Diamond-Blackfan anemia 20
A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. DBA20 inheritance is autosomal dominant.
Thrombocythemia 1
A myeloproliferative disorder characterized by excessive platelet production, resulting in increased numbers of circulating platelets. It can be associated with spontaneous hemorrhages and thrombotic episodes.
Diamond-Blackfan anemia 4
An autosomal dominant form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of developing leukemia. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies.
Hemophagocytic lymphohistiocytosis, familial, 2
A rare disorder characterized by immune dysregulation with hypercytokinemia, defective function of natural killer cell, and massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently neurological abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits and ataxia.
Aplastic anemia
A form of anemia in which the bone marrow fails to produce adequate numbers of peripheral blood elements. It is characterized by peripheral pancytopenia and marrow hypoplasia.
Breast cancer
A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case.
Fanconi anemia complementation group E
A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.
Fanconi anemia complementation group I
A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.
X-linked dyserythropoietic anemia and thrombocytopenia
Disorder characterized by erythrocytes with abnormal size and shape, and paucity of platelets in peripheral blood. The bone marrow contains abundant and abnormally small megakaryocytes.
Fanconi anemia complementation group P
A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. Some individuals affected by Fanconi anemia of complementation group P have skeletal anomalies.
Diamond-Blackfan anemia 16
An autosomal dominant form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies.
Fanconi anemia complementation group C
A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.
Fanconi anemia complementation group G
A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.
Diamond-Blackfan anemia 15, with mandibulofacial dysostosis
An autosomal dominant form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies.
Bone marrow failure syndrome 1
An autosomal dominant disease characterized by aplastic anemia and myelodysplasia resulting from bone marrow failure. Aplastic anemia is a form of anemia in which the bone marrow fails to produce adequate numbers of peripheral blood elements. Myelodysplasia is a clonal hematopoietic stem cell disorder in which immature cells in the bone marrow become malformed and dysfunctional.
Fanconi anemia complementation group B
A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. Some severe FANCB cases manifest features of VACTERL syndrome with hydrocephalus.
Diamond-Blackfan anemia 7
An autosomal dominant form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies.
Diamond-Blackfan anemia 5
An autosomal dominant form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies.
Diamond-Blackfan anemia 1
An autosomal dominant form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of developing leukemia. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies.
Fanconi anemia, complementation group A
A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.
Dyskeratosis congenita, autosomal dominant, 6
A form of dyskeratosis congenita, a rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy.
Medicamentos e terapias
Mecanismo: Tyrosine-protein kinase JAK2 inhibitor
Mecanismo: Tyrosine-protein kinase JAK2 inhibitor
Mecanismo: Tyrosine-protein kinase receptor FLT3 inhibitor
Mecanismo: Complement C5 inhibitor
Mecanismo: Complement C5 inhibitor
Mecanismo: Complement C3 inhibitor
Mecanismo: Tyrosine-protein kinase JAK2 inhibitor
Mecanismo: Interferon alpha/beta receptor agonist
Mecanismo: Interferon alpha/beta receptor agonist
Mecanismo: Tyrosine-protein kinase receptor FLT3 inhibitor
Variantes genéticas (ClinVar)
378 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
141 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Anemia aplásica rara
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Outros ensaios clínicos
362 ensaios clínicos encontrados, 95 ativos.
Publicações mais relevantes
Towards evolutionary guided precision medicine of acute myeloid leukemia and Fanconi anemia associated bone marrow failure.
Carcinogenesis and acquisition of multidrug resistance within established cancers are both multistep evolutionary processes in which stem cells play a role. This perspective will briefly review two corresponding theoretical constructs under development. Efficiency of carcinogenesis (EOC) considers multistep carcinogenesis and predicts the effect of differing dynamics on the efficiency of generating a transformed founder cell. EOC has been applied to evaluation of the role of genetic instability in carcinogenesis. Dynamic precision medicine (DPM) is a method for providing personalized treatment sequences for cancer while explicitly considering intracancer subclonal heterogeneity and evolutionary dynamics (growth and evolutionary rates). It adapts therapy frequently and proactively by anticipating the kinetics of multidrug resistance prior to its detection, and prioritizing its prevention. Simulations suggest potential to substantially increase survival and cure rates across a broad range of clinical presentations. Both of these problems implicate very small subclones within stem cell and/or differentiated compartments, and evolution may occur over months to years. We describe novel experimental technologies for quantifying longitudinal dynamics of very large numbers of cells for prolonged periods, allowing detection and tracking of rare events and their evolution over time. We further highlight two potential applications. In Fanconi anemia, optimal treatment sequences for minimizing bone marrow failure while not increasing the risk of leukemia may be designed using EOC and DPM and tested in laboratory models. In refractory acute myeloid leukemia, high throughput molecular characterization and drug sensitivity screening of subclones is showing clinical promise, and may be further optimized with DPM.
Differential genetic analysis of ectrodactyly in a Fanconi anemia pedigree with FANCA mutations.
Fanconi anemia (FA; OMIM: 227650) is a rare genetic disorder characterized by bone marrow failure, congenital anomalies, and cancer predisposition. While FANCA mutations account for most FA cases, phenotypic overlap with other disorders complicates diagnosis. This study analyzes molecular diagnostic pathways for FANCA-related FA and establishes a hereditary differential diagnosis for ectrodactyly. A Chinese FA family clinical phenotype was collected. The proband and father underwent whole-genome sequencing. Copy number variations (CNVs) in FANCA were assessed by genomic qPCR. Functional characterization of the EHMT1 variant included minigene splicing assays, RT-qPCR and Western blotting on peripheral blood samples. The proband showed pancytopenia and bone marrow hypoplasia, suggesting aplastic anemia. Sequencing analysis identified two FANCA mutations, NM_000135.4: c.154C>T and NC_000016.9: g.89865477_89895212del, which caused partial protein deletion. Subsequent pedigree analysis revealed that the affected individuals of the proband's paternal lineage, who exhibited ectrodactyly, were heterozygous for the EHMT1 c.2382 + 1750G>A variant (NM 024757.5) and showed significantly reduced EHMT1 mRNA expression, demonstrating complete genotype-phenotype co-segregation. Furthermore, Western blot revealed reduced H3K9me2 and decreased intensity of a ∼100 kDa EHMT1-reactive band in the proband's father. The newly identified g.89865477_89895212del mutation enriches the FANCA gene mutant spectrum. Additionally, the EHMT1 c.2382 + 1750G>A variant co-segregates with ectrodactyly and is accompanied by significantly reduced EHMT1 mRNA expression.
Case Report: SLC52A2 variants cause Brown-Vialetto-Van Laere syndrome type 2, characterized by pure red cell aplastic anemia: clinical and genetic features of three Chinese children.
To report three Chinese pediatric cases of Brown-Vialetto-Van Laere syndrome type 2 (BVVLS2) presenting with pure red cell aplasia (PRCA) as the core manifestation, and to analyze their clinical features, molecular basis, and response to riboflavin therapy. We conducted a retrospective analysis of three pediatric cases, integrating detailed clinical phenotyping with comprehensive genetic analysis (including whole-exome/targeted sequencing, Sanger validation, and ACMG-based variant interpretation). To elucidate genotype-phenotype correlations, we interpreted these findings in the context of a literature review. All three patients carried compound heterozygous variants in the SLC52A2 gene. Each exhibited early-onset PRCA (onset age: 2 days to 6 months; hemoglobin: 29-67 g/L) and progressive neurodegeneration, including motor regression, axonal peripheral neuropathy, and sensorineural hearing loss. Riboflavin supplementation led to normalization of hemoglobin levels within four weeks and marked improvement in neurological function. This case series provides detailed longitudinal data on riboflavin-responsive PRCA as a core presenting feature of BVVLS2 and reports rare SLC52A2 variants in the Chinese population. Early riboflavin treatment effectively reversed anemia and partially improved neurological deficits, which may inform a new diagnostic and therapeutic approach for unexplained PRCA accompanied by neurodegenerative features.
Pregnancy-induced aplastic anaemia with platelet refractoriness: clinical insights.
Aplastic anaemia is a rare and potentially life-threatening condition that can worsen during pregnancy. Its management poses unique challenges due to risks of haemorrhage, infection and transfusion complications. We present a case of a second gravida woman in her 30s with progressive bicytopenia starting in the second trimester. Despite multiple transfusions, her platelet counts remained critically low due to suspected platelet refractoriness. Bone marrow biopsy confirmed aplastic anaemia. She was managed with supportive care and steroid pulse therapy, and delivery was planned at term. An emergency caesarean was performed for arrest of labour under general anaesthesia. The patient made a gradual recovery postnatally without requiring bone marrow transplantation. Her counts normalised by 3 months postpartum, supporting the diagnosis of pregnancy-induced reversible aplastic anaemia. This case highlights the importance of multidisciplinary management and the challenges of transfusion refractoriness in resource-limited settings.
Acute severe cholestatic hepatitis and lymphopenia characterize pediatric hepatitis-associated aplastic anemia.
Hepatitis-associated aplastic anemia (HAAA) is described as acute severe hepatitis of unknown origin followed by bone marrow failure (BMF). We aimed to provide a comprehensive picture of pediatric HAAA. Two-center retrospective analysis was performed using data from children diagnosed with acquired BMF, including severe aplastic anemia (SAA) and myelodysplastic syndrome type refractory cytopenia of childhood (RCC). The assessment of the subcohort of HAAA included clinical features indicative of diagnosis and disease progression, with additional data from previously published case series. Cohort comprised 62 children with acquired BMF and 22 children with HAAA. Median age of HAAA patients was 13.5 years. Potentially triggering viral infections were detected in 45%. The median interval from hepatitis onset to cytopenia was 3 weeks. All cases presented with severe hepatitis (median alanine transaminase 2127 U/L) and all but one with hyperbilirubinemia (median bilirubin 15.3 mg/dL). Coagulopathy was variable (median international normalized ratio 1.5). Four patients (18%) developed acute liver failure, two (9%) required liver transplantation. Hepatic parameters normalized within a median of 8.5 weeks. There was no statistically significant difference in the course of hepatitis between patients with SAA and RCC. Early lymphopenia was a key finding in patients with HAAA, progressing from a median of 905/µL at hepatitis onset to 530/µL within 4 weeks. HAAA occurs in both SAA and RCC. Most cases present with severe acute cholestatic hepatitis and variable coagulopathy. Hepatic recovery is common. Lymphopenia at disease onset is frequent and may serve as a diagnostic marker.
Publicações recentes
[The Effect of Haplo-Cord Mixed Chimerism on Lymphocyte Subsets in Aplastic Anemia after Haplo-Cord HSCT].
[The Efficacy of a New Ladder-Type Anti-Human Thymocyte Immunoglobulin in the Treatment of Severe Aplastic Anemia].
Cord blood transfusion added matched unrelated donor transplantation as a preferable choice for aplastic anaemia: a comparative study from a single centre.
Successful Treatment of Aplastic Anemia With Eltrombopag During Pregnancy: A Short Report.
The Role of IFN-γ-Mediated Immune Cell Crosstalk in the Pathogenesis of Aplastic Anemia.
📚 EuropePMC1 artigos no totalmostrando 200
Late-onset combined immunodeficiency and bone marrow failure in severe autoimmune hepatitis: a case report.
Journal of medical case reportsSuccessful Treatment of Aplastic Anemia With Eltrombopag During Pregnancy: A Short Report.
EJHaemTowards evolutionary guided precision medicine of acute myeloid leukemia and Fanconi anemia associated bone marrow failure.
Stem cells translational medicineSevere aplastic anemia concurrent with lymphoplasmacytic lymphoma/Waldenström's macroglobulinemia: A case report.
Internal medicine (Tokyo, Japan)Parvovirus B19-induced aplastic crisis in a kidney transplant recipient.
Journal of infection in developing countriesDifferential genetic analysis of ectrodactyly in a Fanconi anemia pedigree with FANCA mutations.
MedScienceCase Report: SLC52A2 variants cause Brown-Vialetto-Van Laere syndrome type 2, characterized by pure red cell aplastic anemia: clinical and genetic features of three Chinese children.
Frontiers in pediatricsNGS identifies novel HLA-DQA1 and DPB1 associations with aplastic anemia in the Kazakhstani population.
Frontiers in immunologyAssessment of characteristics and treatment patterns of adult patients with acquired aplastic anemia in Turkiye (PLANE-TR).
Annals of hematologyCOEXISTENCE OF APLASTIC ANEMIA AND PAROXYSMAL NOCTURNAL HEMOGLOBINURIA: DIAGNOSTIC CHALLENGES AND THERAPEUTIC STRATEGIES - CASE REPORT.
Georgian medical newsNeurofibromatosis type I -related severe aplastic anemia: an unusual association with a complicated bone marrow transplantation course.
Annals of hematologyClinical characteristics and treatment outcomes in thymoma- related aplastic anemia: a case report and literature review.
Journal of cardiothoracic surgeryMachine learning mortality prediction model for cyclosporine therapy in pediatric aplastic anemia.
Annals of hematologyA Rare Case of Co-occurring Fanconi Anemia and Primary Ciliary Dyskinesia.
Turkish journal of haematology : official journal of Turkish Society of HaematologyA Rare Case of Disseminated Mycoplasma pneumoniae Infection Spreading from a Pelvic Lesion to a Psoas Muscle Abscess.
International journal of infectious diseases : IJID : official publication of the International Society for Infectious DiseasesA meta-analysis of immunosuppressive and Pharmacological therapies in aplastic anaemia with and without Indigenous equine antithymocyte globulin (eATG).
Annals of hematologyExcellent outcomes in children after haematopoietic stem cell transplantation for hepatitis-associated aplastic anaemia following liver transplantation.
British journal of haematologyEvaluating the Effectiveness of Early Genetic Screening for Fanconi Anemia in High-Risk Pediatric Populations.
Molecular genetics & genomic medicinePregnancy-induced aplastic anaemia with platelet refractoriness: clinical insights.
BMJ case reportsCarbamazepine-induced aplastic anemia: A rare reported adverse drug reaction.
Indian journal of pharmacologyA rare case of dyskeratosis congenita with DKC1 mutation presenting initially as thrombocytopenia: Case report.
MedicineEfficacy and safety of avatrombopag in aplastic anemia: a comprehensive review of clinical evidence.
Therapeutic advances in hematologyMycoplasma pneumoniae pneumonia associated with severe neutropenia.
La Revue de medecine interneAvatrombopag in immune thrombocytopenia and beyond: Current evidence and emerging perspectives.
Blood reviewsMolecular classification and outcomes in pediatric aplastic anemia with myeloid neoplasm-associated gene variants.
Frontiers in pediatricsA De Novo Splicing Mutation of SRP72 in Bone Marrow Failure Syndrome Type 1: Case Report and Review of the Literature.
Molecular genetics & genomic medicineBlastic plasmacytoid dendritic cell neoplasm (BPDCN): international, multi-center collaboration and global registry program.
Discover oncologyParvovirus B19-Induced Aplastic Crisis and Hemophagocytic Lymphohistiocytosis in a Child With Hereditary Spherocytosis.
CureusEvaluating the causal role of circulating inflammatory cytokines and plasma metabolites on aplastic anemia.
MedicineDental Manifestations and Clinical Implications of Diamond-Blackfan Anemia.
Journal of dentistry for children (Chicago, Ill.)Acute severe cholestatic hepatitis and lymphopenia characterize pediatric hepatitis-associated aplastic anemia.
Journal of pediatric gastroenterology and nutritionEfficacy and influencing factors of immunosuppressive therapy combined with or without eltrombopag in children with severe aplastic anemia.
Frontiers in medicineCalcineurin inhibitor and eltrombopag combination for acquired aplastic anemia: results from a large national database.
Therapeutic advances in hematologyRotational Thromboelastometry (ROTEM)-Assisted Anaesthetic Management of a Parturient With Paroxysmal Nocturnal Haemoglobinuria and Aplastic Anaemia for Caesarean Section: A Case Report.
CureusVaginoscopy approach with Mechanical Tissue Removal System for AUB inPediatric Aplastic Anemia: a case report.
BMC surgeryMetabolic reprogramming in Fanconi anemia: Evidence of compromised glucose oxidation, enhanced ketogenesis, and metabolic inflexibility.
Science advancesPredicting secondary myeloid neoplasms in acquired aplastic anemia using machine learning models.
Blood neoplasiaA clinical presentation of rhino-orbito-cerebral mucormycosis in a patient with aplastic anemia: a case report.
Journal of medical case reportsHemophagocytic lymphohistiocytosis in the context of hepatitis-associated severe aplastic anemia: A case report.
MedicineFancl-mutant mice reveal central role of monoubiquitination in Fanconi anemia and a model for therapeutic gene editing.
Blood advancesAutoimmune aplastic anemia- a rare and devastating presentation of Systemic Lupus Erythematosus - a case report.
BMC rheumatologyDNA Methylation Episignature as a Novel Diagnostic Tool for Diamond-Blackfan Anemia Syndrome.
American journal of hematologyHepatic Sinusoidal Obstruction Syndrome Secondary to Aplastic Anemia/Paroxysmal Nocturnal Hemoglobinuria Syndrome: A Rare Case.
Diagnostics (Basel, Switzerland)Pediatric Hepatitis-Associated Aplastic Anemia.
Pediatric annalsOsimertinib-induced aplastic anemia after curative surgery for EGFR-mutant lung adenocarcinoma.
Respiratory medicine case reportsA Rare Case of Anti-glutamic Acid Decarboxylase 65 Autoimmune Encephalitis Followed by Acute Graft-Versus-Host Disease in Simultaneous Kidney and Pancreas Transplant.
Kidney medicineImmuno-microbial crosstalk in aplastic anemia: Role of gut and viral triggers.
Microbial pathogenesisAplastic Anemia in Focus: Insights into Diagnosis and Emerging Therapies.
Annals of African medicineLoss of Fanconi anemia proteins causes a reliance on lysosomal exocytosis.
Cell death & diseaseRefractory severe aplastic anemia in a child: treatment failure and access barriers in a low-resource setting.
Annals of medicine and surgery (2012)A Rare Case of Atezolizumab-Induced Very Severe Aplastic Anemia.
CureusDecitabine-cedazuridine in patients with MDS and TP53 mutations.
Blood advancesFinal safety and efficacy results from a phase 1/2 study of tagraxofusp, a CD123-targeted therapy, for myelofibrosis.
Blood neoplasiaDisparities in real-world treatment patterns of hypomethylating agents among patients with MDS in the United States.
Blood neoplasiaAplastic anemia following high-voltage electrical injury: A case report.
Trauma case reportsCongenital Anemia Due to Erythropoietin Gene Mutation Presenting With Diamond-Blackfan Anemia-like features.
Journal of investigative medicine high impact case reportsEarly and Long-Lasting Hematologic Recovery in a Young Adult With Severe Aplastic Anemia Treated With Romiplostim, Horse-Anti-Thymocyte Globulin (ATG), and Cyclosporine A: A Case Report.
CureusCase report: Spontaneous remission of severe aplastic anemia mediated by mutant hematopoietic stem cells evading T-cell attack.
Frontiers in immunologyEnding diagnostic odyssey by reanalysis of whole exome sequencing data: reclassification of suspected Fanconi anemia cases to dyskeratosis congenita and Diamond-Blackfan anemia.
Orphanet journal of rare diseasesResearch Communication: Prevalence of Asymptomatic Premalignant Oesophageal Lesions in Patients With Fanconi Anaemia.
Alimentary pharmacology & therapeuticsA Case Report of Severe Aplastic Anemia Complicated by Papillary Thyroid Carcinoma and Hashimoto's Thyroiditis.
Clinical laboratoryDynamics of Fanconi anemia protein D2 in association with nuclear lipid droplet formation.
Journal of cell science[Aplastic anemia in children: recent advances in diagnosis and treatment].
[Rinsho ketsueki] The Japanese journal of clinical hematologyPharmacovigilance assessment of drug-induced aplastic anemia: analysis of the FDA adverse event reporting system.
International journal of clinical pharmacyMechanistic insights into alcohol-induced DNA crosslink repair by Slx4-Xpf-Ercc1 nuclease complex in the Fanconi anaemia pathway.
Communications biologyParvovirus B19-induced aplastic anemia following mechanical valve replacement.
The Journal of international medical researchA de novo nonsense variant in RPS10 causes Diamond-Blackfan anaemia in an Indian patient: clinical and functional evidence.
Molecular genetics and genomics : MGGSpinal Extramedullary Hematopoiesis Causing Spinal Cord Compression in Radiation-induced Bone Marrow Aplasia: A Case Report.
Acta medica PhilippinaParoxysmal Nocturnal Hemoglobinuria with Large Clones in Non-Hypoplastic Myelodysplastic Syndrome: Report of Two Cases.
Acta haematologicaCase Report: Hepatocellular adenoma due to long-term oral stanozolol administration.
Frontiers in medicineA Case of Hepatosplenic Gamma Delta T Cell Lymphoma With Concomitant Bone Marrow Aplasia Following Azathioprine Therapy, Treatment Course and Review of the Literature.
Cancer reports (Hoboken, N.J.)Insights into Fanconi Anemia Based on Molecular and Clinical Characteristics: A Multicentre Study of 13 Patients.
Children (Basel, Switzerland)Case Report: Eltrombopag in mosaic and gene therapy-treated patients with Fanconi anemia.
Frontiers in pediatricsHepatitis-associated Aplastic Anemia in Children: Unraveling Clinical Mysteries in a Single-center Case Series-More Questions Than Answers!
Journal of pediatric hematology/oncologyContemporary outcomes of octa-nonagenarians with newly diagnosed acute myeloid leukemia.
CancerOral Verruciform Xanthoma as a Manifestation of Chronic Graft-Versus-Host Disease in Fanconi Anemia: A Rare Case Report.
Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry[A new era in the treatment of aplastic anemia].
[Rinsho ketsueki] The Japanese journal of clinical hematology"I would love to talk to someone that actually understands": Psychosocial experiences of adults with Fanconi anemia.
Journal of health psychologyComprehensive review on Fanconi anemia: insights into DNA interstrand cross-links, repair pathways, and associated tumors.
Orphanet journal of rare diseasesAlu-mediated FANCD2 exonic deletion contributes to Fanconi anaemia.
British journal of haematologyIntrafamilial variability in Diamond-Blackfan anemia with a novel canonical splice-site variant in the RPL11 gene.
Laboratory medicineSuccessful Treatment of Aplastic Anemia Induced by Immune Checkpoint Inhibitors for Lung Cancer.
Internal medicine (Tokyo, Japan)Patient-Reported Meaningful Change in Symptoms and Impacts of Paroxysmal Nocturnal Hemoglobinuria (PNH) in Three Phase III Clinical Trials of Iptacopan.
The patientA decade of acquired aplastic anemia: insights from a Central South African Center.
The Pan African medical journalHaplo-hematopoietic stem cell transplantation and immunoradiotherapy for severe aplastic anemia complicated with nasopharyngeal carcinoma: A case report.
Open life sciencesEltrombopag for Bone Marrow Failure in Fanconi Anemia: Results From the Phase II Clinical Trial FANCREV.
European journal of haematologyCase Report: Rare aplastic anemia in pediatric systemic lupus erythematosus: a case series and systematic literature review.
Frontiers in pediatricsPlatelet glycosylation in myelodysplastic syndromes correlates with disease severity.
Blood advancesRecessive FANCM cancer syndrome with high cancer risks, chemotherapy toxicity, chromosome fragility, and gonadal failure.
Genetics in medicine : official journal of the American College of Medical GeneticsThe incidence of paroxysmal nocturnal hemoglobinuria cell clones in the Nordic countries.
Annals of hematologyPredictive factors of romiplostim response in patients with refractory aplastic anemia: data from two clinical trials.
Annals of hematologyAssociation of TGF-β1 -509 C > T (rs1800469) polymorphism with bone marrow failure severity in Fanconi anemia subjects.
Molecular biology reportsGermline and somatic genetic landscape of pediatric myelodysplastic syndromes.
HaematologicaUp-front alternative donor HCT in severe aplastic anemia: gaps and opportunities to translate evidence into practice.
Blood advances[Recent advances in the treatment of paroxystic nocturnal hemoglobinuria].
La Revue du praticienTraditional Chinese medicine for intractable and rare diseases: Research progress and future strategies.
Intractable & rare diseases researchAplastic Anaemia Disease Burden From the Patient Perspective and Quality of Life in Zimbabwe by A. Maramba and J. Mupini.
Journal of blood medicineOral iptacopan monotherapy in paroxysmal nocturnal haemoglobinuria: final 48-week results from the open-label, randomised, phase 3 APPLY-PNH trial in anti-C5-treated patients and the open-label, single-arm, phase 3 APPOINT-PNH trial in patients previously untreated with complement inhibitors.
The Lancet. HaematologyLife-Threatening Anemia and Thrombocytopenia in a Toddler with Influenza B: Case Report and Literature Review.
Children (Basel, Switzerland)Fanconi anemia patients with head and neck squamous cell carcinoma - a multi-center study.
European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck SurgeryTHPO promoter mutation: a familial study on congenital amegakaryocytic thrombocytopenia.
Journal of geneticsEltrombopag in combination with immunosuppressive therapy in pediatric severe aplastic anemia: phase 2 ESCALATE trial.
Blood advancesTo enhance the detection of aplastic anemia in primary care settings: a population-based study in Italy.
Expert review of hematologyInborn errors of immunity underlie clonal T cell expansions in large granular lymphocyte leukemia.
The Journal of clinical investigationSuccessful dupilumab treatment in a patient with severe dermatitis following allogenic hematopoietic stem cell transplantation.
Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical ImmunologyRhino-orbito-cerebral mucormycosis after allogeneic hematopoietic stem cell transplantation for very severe aplastic anemia in a child: a case report.
Frontiers in pediatricsCurrent view on the etiopathogenesis of aplastic anemia.
The Korean journal of physiology & pharmacology : official journal of the Korean Physiological Society and the Korean Society of PharmacologyAnchored Indirect Treatment Comparison Finds Comparable Effects of Pegcetacoplan and Iptacopan in Paroxysmal Nocturnal Haemoglobinuria.
European journal of haematologyCyclosporine A Combined with Rituximab Successfully Treated Erythropoietin-Induced Pure Red Blood Cell Aplastic Anemia.
Case reports in nephrology and dialysisMental health in the first generation of adults with Fanconi anemia.
Psychology, health & medicineFrom severe aplastic anemia with TERT variant to Wilson disease - associations or not.
Annals of hematologyThe Advancing Landscape of Paroxysmal Nocturnal Hemoglobinuria Treatment.
Turkish journal of haematology : official journal of Turkish Society of HaematologyHigh-Power Laser Treatment for Oral Leukoplakia in Fanconi Anemia: A Case Series Report.
Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric DentistryDeficiency of the Fanconi anemia core complex protein FAAP100 results in severe Fanconi anemia.
The Journal of clinical investigationDiamond-Blackfan anaemia presents as pathological foetal CTG and severe neonatal anaemia.
BMJ case reportsPediatric Case of Calcineurin Inhibitor-Induced Pain Syndrome Diagnosed During Cyclosporine Therapy for Aplastic Anemia.
CureusTelomere Length and Genetic Variations in Acquired Pediatric Aplastic Anemia: A Flow-FISH Study in Korean Patients.
Diagnostics (Basel, Switzerland)Loss of Ten1 in mice induces telomere shortening and models human dyskeratosis congenita.
Science advancesExploring the Fanconi Anemia Gene Expression and Regulation by MicroRNAs in Gilthead Seabream (Sparus aurata) at Different Gonadal Development Stages.
Marine biotechnology (New York, N.Y.)Acute hepatitis A-associated aplastic anemia in a pediatric: a case report from Syria.
Annals of medicine and surgery (2012)Clinical and genetic spectrum of SBDS and DNAJC21 gene variants in bone marrow failure cases: Atypical and cryptic presentations.
Blood cells, molecules & diseasesShort-term recurrent coronary artery thrombosis with acute myocardial infarction in a patient with aplastic anemia-paroxysmal nocturnal hemoglobinuria syndrome: a case report.
Frontiers in cardiovascular medicineEruptive Xanthoma With Pancytopenia: A Report of a Rare Case and Diagnostic Challenges.
CureusA Rare Association of Celiac Disease and Aplastic Anemia.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology SocietyReducing clinical trial eligibility barriers for patients with MDS: an icMDS position statement.
BloodDiagnosis and treatment of Diamond-Blackfan anemia and Pierre-Robin sequence caused by a novel mutation of RPS28 gene.
Hematology (Amsterdam, Netherlands)Impact of A Multidisciplinary Team Discussion for Genetic Lung Fibrosis.
Respirology (Carlton, Vic.)Infantile Pure Red Cell Aplasia Secondary to Deficiency of Adenosine Deaminase2 (DADA2) Syndrome-Time to Think Beyond Diamond Blackfan Anemia.
Pediatric blood & cancerPathogenesis of paroxysmal nocturnal hemoglobinuria.
BloodSomatic mutations in Brazilian patients with paroxysmal nocturnal hemoglobinuria: a comprehensive analysis.
Frontiers in medicineRPS24 haploinsufficiency impairs erythropoiesis in the Diamond-Blackfan anemia zebrafish model via the STAT6-SATB1 pathway.
Biochemical and biophysical research communicationsGenetic Mutations Driving Aplastic Anemia: A Focus on Key Allelic Changes.
European journal of haematologyPredictive Markers for Response to Immunosuppressive Therapy in Aplastic Anaemia.
Scandinavian journal of immunologyIdentification of 2 novel noncoding variants in patients with Diamond-Blackfan anemia syndrome by whole genome sequencing.
Blood advances[Observational Study on the Diagnostic Efficacy of Metagenomic Next-Generation Sequencing for Bloodstream Infections Secondary to Hematologic Diseases in Children].
Zhongguo shi yan xue ye xue za zhiUnveiling the role of RPS17 and SLC4A1 in diamond-Blackfan Anemia: A zebrafish-based study.
Blood cells, molecules & diseasesEthosuximide-associated Aplastic Anemia Likely Due to Drug-induced Lupus Erythematosus: A Case Report With Immunologic Insights.
Journal of pediatric hematology/oncologyAplastic Anemia as a Rare Manifestation of SAP Deficiency.
Pediatric blood & cancerPremature ageing of lung alveoli and bone marrow cells from Terc deficient mice with different telomere lengths.
Scientific reportsIndications for Blood Transfusion and Exchange Transfusion in Sickle Cell Disease: A Single Center Experience.
CureusCharacterizing the heterogeneity of Castleman disease and oligocentric subtype: findings from the ACCELERATE registry.
Blood advancesCharacterization of Ferroptosis-Related Genes in Aplastic Anaemia: An Integrated Analysis of Bulk and Single-Cell RNA Sequencing Data.
Acta haematologicaParvovirus B19-Induced Pancytopenia: A Case Report of Aplastic Crisis.
CureusGingival Debulking Surgery for a Child With Severe Aplastic Anemia: A Case Report.
Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric DentistryAdverse drug events (ADEs) risk signal mining related to eculizumab based on the FARES database.
Frontiers in pharmacologyCase Report: A Novel Homozygous Variant in the SLX4 Gene Causes Fanconi Anemia.
Genetic testing and molecular biomarkersCurrent status and perspectives of hematopoietic cell transplantation in patients with paroxysmal nocturnal hemoglobinuria.
Frontiers in immunologyPhase 1 study of quercetin, a natural antioxidant for children and young adults with Fanconi anemia.
Blood advancesRare Autoantibody Mimics Anti-C and Anti-e Specificity in Patient with Aplastic Anemia.
Clinical laboratoryMore Than a Haematoma: A Case of Aplastic Anemia.
CureusA case of corneal opacity caused by atovaquone administration.
American journal of ophthalmology case reportsUnusual outcome of treatment of thymoma with immunotherapy: case report.
Mediastinum (Hong Kong, China)Magnusiomyces capitatus, an Unusual Cause of Invasive Fungal Infections in Neutropenic Patients: Case Reports and Outbreak Investigation.
MycopathologiaSuccessful Antibiotic Treatment of Phlegmonous Gastritis Following Allogeneic Hematopoietic Stem Cell Transplantation.
Internal medicine (Tokyo, Japan)Severe aplastic anemia with acquired X chromosome clonality as a sole abnormality.
Annals of hematologyFelbamate as a therapeutic alternative to drug-resistant genetic generalized epilepsy: a systematic review and meta-analysis.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyDiagnosis of Diamond-Blackfan anemia in adulthood: case series and review of the literature.
Orphanet journal of rare diseasesA rare case report of severe aplastic anaemia caused by long-term use of zidovudine.
BMC infectious diseasesExpert consensus on the management of pharmacodynamic breakthrough-hemolysis in treated paroxysmal nocturnal hemoglobinuria.
Hematology (Amsterdam, Netherlands)Aplastic Anemia: Demographic and Clinical Characteristics in Costa Rica.
CureusInvestigating the effects of the ARG258HIS mutation on RAD51C in inherited Fanconi Anemia and cancer disease.
Journal of biomolecular structure & dynamicsHaematopoietic gene therapy of non-conditioned patients with Fanconi anaemia-A: results from open-label phase 1/2 (FANCOLEN-1) and long-term clinical trials.
Lancet (London, England)Feasibility and effectiveness of the prolonged use of eltrombopag in addition to immunosuppression in patients with acquired aplastic anemia: a single-center real-life experience.
PlateletsAlu-Mediated Deletion of FANCA in Turkish Families With Fanconi Anemia: Evidence of a Founder Effect.
American journal of medical genetics. Part APotential of ginsenoside Rg1 to treat aplastic anemia via mitogen activated protein kinase pathway in cyclophosphamide-induced myelosuppression mouse model.
World journal of stem cellsCord Blood Transplantation Using Myeloablative Conditioning for Pediatric Advanced Myelodysplastic Syndrome in AMeD Syndrome With a Novel ADH5 Variant.
Pediatric blood & cancerA multicentre, retrospective study of epidemiology and outcome of aplastic anaemia among adult population in Sabah and Sarawak from year 2006 to 2017.
The Medical journal of MalaysiaMonitoring and Treatment of Paroxysmal Nocturnal Hemoglobinuria in Patients with Aplastic Anemia in Asia: An Expert Consensus.
International journal of molecular sciencesDental and Craniofacial Anomalies in Fanconi Anemia: A Systematic Review and Additional 46 Reports.
Oral diseasesA novel nonsense RPS26 mutation in a patient with Diamond-Blackfan anemia: a case report.
Journal of medical case reportsAplastic anemia associated with osimertinib: Analysis of the FDA adverse event reporting system.
International journal of clinical pharmacology and therapeuticsPrognostic significance of mutation type and chromosome fragility in Fanconi anemia.
American journal of hematologyNew Insights into the Fanconi Anemia Pathogenesis: A Crosstalk Between Inflammation and Oxidative Stress.
International journal of molecular sciencesContribution of p53-dependent and -independent mechanisms to upregulation of p21 in Fanconi anemia.
PLoS geneticsA Rare THPO Gene Mutation in a Saudi Female Child: A Case Report and Literature Review.
CureusWhy hematopoietic stem cells fail in Fanconi anemia: Mechanisms and models.
BioEssays : news and reviews in molecular, cellular and developmental biologySevere acquired Factor VII deficiency complicating an aplastic anemia, successfully treated with corticosteroids.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosisA machine learning algorithm for the detection of paroxysmal nocturnal haemoglobinuria (PNH) in UK primary care electronic health records.
Orphanet journal of rare diseasesFatal Neutropenic Enterocolitis in a Young Female After the First Round of Eculizumab for Paroxysmal Nocturnal Hemoglobinuria.
CureusFANCD2 genome binding is nonrandom and is enriched at large transcriptionally active neural genes prone to copy number variation.
Functional & integrative genomicsWhole Exome Sequencing of Adult Indians with Apparently Acquired Aplastic Anaemia: Initial Experience at Tertiary Care Hospital.
Diseases (Basel, Switzerland)Very severe aplastic anemia in a child with pulmonary mucormycosis: a case report.
Frontiers in pediatricsIncreased incidence of seronegative autoimmune hepatitis in children during SARS-CoV-2 pandemia period.
Frontiers in immunologyGermline RTEL1 Variants in Telomere Biology Disorders.
American journal of medical genetics. Part ARPL26 variants: A rare cause of Diamond-Blackfan anemia syndrome with multiple congenital anomalies at the forefront.
Genetics in medicine : official journal of the American College of Medical Genetics[Acquired bone marrow aplasia in children and young adults under the age of 30: Experience of the Pediatric Hematology and Oncology Department of the 20 August Hospital, Casablanca].
Bulletin du cancerClinical characteristics and management of paroxysmal nocturnal haemoglobinuria in Latin America: a narrative review.
Annals of hematologyAccurate donor and recipient selection and a short time to transplant offer excellent outcomes in upfront hematopoietic stem cell transplantation from matched unrelated donors for pediatric severe aplastic anemia and refractory cytopenia of childhood. A study of the Spanish Pediatric Group for Hematopoietic Cell Transplantation and Cell Therapy (GETH-TC).
Bone marrow transplantationSmall pituitary volume and central nervous system anomalies in Fanconi Anemia.
Frontiers in endocrinologyMoving toward Individual Treatment Goals with Pegcetacoplan in Patients with PNH and Impaired Bone Marrow Function.
International journal of molecular sciencesClinical and Biological Perspectives on Noncanonical Esophageal Squamous Cell Carcinoma in Rare Subtypes.
The American journal of gastroenterologyFanconi Anaemia associated with café au lait spots: A rare case report.
JPMA. The Journal of the Pakistan Medical AssociationEncephalitis with Antibodies Against Glial Fibrillary Acidic Protein (GFAP) After Allogeneic Hematopoietic Stem Cell Transplantation: A Rare Case Report and Literature Review.
Journal of blood medicinePatient-reported outcomes and daily activity assessed with a digital wearable device in patients with paroxysmal nocturnal hemoglobinuria treated with ravulizumab: REVEAL, a prospective, observational study.
Health and quality of life outcomesRetrospective identification of the first cord blood-transplanted severe aplastic anemia in a STAT1-associated chronic mucocutaneous candidiasis family: case report, review of literature and pathophysiologic background.
Frontiers in immunologyMethimazole-Induced Pancytopenia in a Patient with Graves' Disease: A Case Report and Literature Review.
Current drug safetyLongitudinal clinical manifestations of Fanconi anemia: A systematized review.
Blood reviewsOral health-related quality of life in Fanconi anemia: a cross-sectional study.
Supportive care in cancer : official journal of the Multinational Association of Supportive Care in CancerA Rare Case of Iron Overload in Hereditary Spherocytosis: A Case Report.
CureusTelomere length and clonal chromosomal alterations in peripheral blood of patients with severe aplastic anaemia.
British journal of haematologyAssociações
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Doença com base genética
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Doenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Perguntas frequentes
O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu
A doença decorre da falência da medula óssea, podendo ser idiopática ou provocada por agentes tóxicos, radiação e fatores imunes. Mutações em genes como TET2, TERT e genes de reparo ribossômico e de DNA também estão associadas ao quadro.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
10 publicações do grafo RarasNet (PubMed) · 8 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Citar este verbete
Raras. (s.d.). Anemia aplásica rara. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/anemia-aplasica-rara
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Anemia aplásica rara
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- fonte: MONDO
- Genética mendeliana
- fonte: OMIM
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- fonte: GARD (NIH)
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- fonte: MeSH (NLM)
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- fonte: Wikidata
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- fonte: OpenTargets
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- fonte: Drug Repurposing Hub
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- fonte: ClinicalTrials.gov
