É um tipo de anemia aplástica que a pessoa desenvolve ao longo da vida.
Introdução
O que você precisa saber de cara
É um tipo de anemia aplástica que a pessoa desenvolve ao longo da vida.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 42 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 83 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
7 genes identificados com associação a esta condição.
Catalytic subunit of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex that catalyzes the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol and participates in the first step of GPI biosynthesis
Rough endoplasmic reticulum membrane
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.
Component of the glycosylphosphatidylinositol-anchor (GPI-anchor) transamidase (GPI-T) complex that catalyzes the formation of the linkage between a proprotein and a GPI-anchor and participates in GPI anchored protein biosynthesis (PubMed:11483512, PubMed:12582175, PubMed:28327575, PubMed:34576938, PubMed:35165458, PubMed:35551457, PubMed:36970549, PubMed:37684232). May play a crucial role in GPI-T complex assembly in the luminal layer (PubMed:35165458, PubMed:35551457). Binds GPI-anchor (PubMed
Endoplasmic reticulum membrane
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.
Non-receptor tyrosine kinase involved in various processes such as cell growth, development, differentiation or histone modifications. Mediates essential signaling events in both innate and adaptive immunity. In the cytoplasm, plays a pivotal role in signal transduction via its association with type I receptors such as growth hormone (GHR), prolactin (PRLR), leptin (LEPR), erythropoietin (EPOR), thrombopoietin receptor (MPL/TPOR); or type II receptors including IFN-alpha, IFN-beta, IFN-gamma and
Endomembrane systemCytoplasmNucleus
Calcium-binding chaperone that promotes folding, oligomeric assembly and quality control in the endoplasmic reticulum (ER) via the calreticulin/calnexin cycle. This lectin interacts transiently with almost all of the monoglucosylated glycoproteins that are synthesized in the ER (PubMed:7876246). Interacts with the DNA-binding domain of NR3C1 and mediates its nuclear export (PubMed:11149926). Involved in maternal gene expression regulation. May participate in oocyte maturation via the regulation
Endoplasmic reticulum lumenCytoplasm, cytosolSecreted, extracellular space, extracellular matrixCell surfaceSarcoplasmic reticulum lumenCytoplasmic vesicle, secretory vesicle, Cortical granuleCytolytic granule
Receptor for thrombopoietin that regulates hematopoietic stem cell renewal, megakaryocyte differentiation, and platelet formation. Upon activation by THPO, induces rapid tyrosine phosphorylation and activation of JAK2, providing docking sites for many signaling proteins such as STAT5, SHIP/INPP5D, GRB2, SOS1 and PI3K (PubMed:15899890, PubMed:37633268). In turn, These signaling cascades lead to the proliferation, survival, and differentiation of megakaryocytes, ultimately leading to increased pla
Cell membraneGolgi apparatusCell surface
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.
Links T-cell receptor activation signal to phospholipase C-gamma-1, GRB2 and phosphatidylinositol 3-kinase
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.
Dioxygenase that catalyzes the conversion of the modified genomic base 5-methylcytosine (5mC) into 5-hydroxymethylcytosine (5hmC) and plays a key role in active DNA demethylation. Has a preference for 5-hydroxymethylcytosine in CpG motifs. Also mediates subsequent conversion of 5hmC into 5-formylcytosine (5fC), and conversion of 5fC to 5-carboxylcytosine (5caC). Conversion of 5mC into 5hmC, 5fC and 5caC probably constitutes the first step in cytosine demethylation. Methylation at the C5 position
NucleusChromosome
Variantes genéticas (ClinVar)
581 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
46 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 — Aplasia constitucional medular do adulto
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Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
Pesquisa e ensaios clínicos
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Publicações mais relevantes
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.
Successful Treatment of Aplastic Anemia With Eltrombopag During Pregnancy: A Short Report.
Aplastic anemia (AA) is a rare bone marrow failure syndrome with pancytopenia, mainly due to immune-mediated stem cell destruction. First-line therapy for acquired severe AA ≥ 50 years/non-severe AA (NSAA) requiring treatment is immunosuppressive therapy with horse anti-thymocyte globulin, cyclosporine A (CSA), and eltrombopag (EPAG). In pregnancy, cytopenia may worsen, while therapeutic options are limited. We report the first case of a pregnant patient with NSAA/PNH receiving full-dose EPAG (150 mg/d). Counts remained stable, delivery was uneventful, and the child was healthy. Postpartum, EPAG was discontinued, CSA tapered, and transfusion independence achieved. EPAG may represent a feasible option in selected pregnancies.
Assessment of characteristics and treatment patterns of adult patients with acquired aplastic anemia in Turkiye (PLANE-TR).
Acquired aplastic anemia (AA) is a rare blood disorder causing hypocellular bone marrow due to immune damage to hematopoietic stem cells, leading to low blood cell counts. This study investigates the demographics, treatment patterns, and clinical outcomes of AA in Turkiye. In this non-interventional, retrospective descriptive study, data of 274 patients (Female/Male: 4/5) diagnosed with AA between September 1, 2011, and September 1, 2021, were collected from 16 centers. Severe and very severe AA was diagnosed in 72% and 27.7% of patients, respectively. The mean time from diagnosis to first treatment was 119 ± 287 days, while time to hematopoietic stem cell transplantation (HSCT) was 212 ± 321 days, and to Anti-Thymocyte Globulin (ATG) was 87 ± 242.5 days. The mean time to response after first-line and second-line treatment was 172.9 ± 264.6 days and 191.9 ± 211.9 days, respectively. The mean overall survival of patients with AA was 3.56 ± 3.12 years, with a 5-year overall survival rate of 72.6%. HSCT and other initial treatments led to full or partial remission for most patients, improving survival rates for over half of them. The study observed comparable patterns to previous studies, providing vital insights into Turkiye's acquired AA treatment landscape.
Machine learning mortality prediction model for cyclosporine therapy in pediatric aplastic anemia.
The outcomes of children with aplastic anemia receiving cyclosporine monotherapy vary significantly in terms of mortality risk; therefore, a prognostic model for predicting mortality risk was constructed to optimize risk-stratified treatment strategies. This retrospective cohort study included children with acquired AA receiving cyclosporine-based immunosuppression, stratified by disease severity (vSAA/SAA/NSAA) and randomly split into training (70%) and validation (30%) cohorts. Ten machine learning models were developed; hyperparameters were optimized via grid search with 10-fold cross-validation exclusively within the training cohort to prevent data leakage. Model performance was evaluated using area under the ROC curve (AUC), accuracy, recall, specificity, precision, F1 score, and Brier score. Decision curve analysis (DCA) quantified clinical net benefit. The calibration curve was used to evaluate the reliability of the predicted probabilities. The SHapley Additive exPlanations (SHAP) framework was used to interpret feature contributions and ensure model transparency. Least absolute shrinkage and selection operator (LASSO) regression on the training cohort identified 5 predictors: reticulocyte count (RC), platelet count (PLT), disease subtype (vSAA/SAA/NSAA), total bilirubin (TB), and bone marrow myeloid proportion. The CatBoost model achieved the highest performance: AUC 0.834 (95% CI: 0.774-0.895) in training and 0.826 (95% CI: 0.743-0.910) in validation, with acceptable calibration (Brier score: 0.206 in training cohort, 0.207 in validation cohort). SHAP analysis confirmed RC as the top contributor, with lower RC values associated with higher predicted mortality risk. The CatBoost model demonstrates robust performance and transparency for predicting mortality risk in children with AA after cyclosporine treatment. Adherence to TRIPOD + AI guidelines ensures methodological rigor, supporting its potential as a clinical decision tool to stratify patients into distinct mortality risk groups and optimize individualized treatment strategies.
Efficacy and safety of avatrombopag in aplastic anemia: a comprehensive review of clinical evidence.
Aplastic anemia is a bone marrow failure disorder marked by cytopenias that impair oxygen delivery, immune defense, and hemostasis. Standard therapy traditionally combines immunosuppression with or without hematopoietic stem cell transplantation, and more recently incorporates thrombopoietin receptor agonists to stimulate residual hematopoiesis. Eltrombopag improved outcomes when added to immunosuppressive therapy, but its association with hepatotoxicity limits its suitability for patients with underlying liver disease or elevated baseline liver enzymes. Avatrombopag is a newer oral thrombopoietin receptor agonist that does not require dietary restrictions and does not undergo significant hepatic metabolism, which offers a potential therapeutic advantage in settings where liver function is compromised. This review evaluated ten clinical studies published from 2023 to October 2025 that investigated avatrombopag in acquired aplastic anemia across varied patient populations, including treatment-naive, relapsed or refractory cases, older adults, and patients with secondary aplastic anemia related to chemoradiation. Across these studies, overall response rates ranged from 55% to 85%, and complete response rates reached up to one-third of treated patients. Response onset typically occurred within 1-2 months, which aligns with clinical decision timelines for assessing therapeutic benefit. Avatrombopag supported reductions in transfusion requirements and sustained hematologic improvement in both severe and non-severe disease. Patients previously intolerant or non-responsive to eltrombopag also demonstrated clinical improvement, which suggests pharmacologic differences translate into meaningful therapeutic effects. Importantly, avatrombopag demonstrated a favorable safety profile in all reviewed settings. Reports did not identify clinically relevant hepatotoxicity, clonal evolution, or treatment-limiting adverse effects. Its tolerability in patients with liver dysfunction distinguishes it from earlier agents in this drug class. Ongoing trials will clarify optimal dosing strategies and define its future role within first-line therapy and salvage treatment pathways for aplastic anemia. A new treatment option for aplastic anemia: how avatrombopag may help patients with fewer side effects Aplastic anemia is a rare but serious disease where the bone marrow stops making enough blood cells. People with this condition often feel tired, bruise easily, or get frequent infections. The standard treatment for those who can’t get a bone marrow transplant is a combination of medications that suppress the immune system. Another helpful medicine, eltrombopag, boosts blood cell production but can harm the liver, which limits its use in some patients. Avatrombopag is a newer medicine that also stimulates blood cell production but seems to be safer for the liver. It’s taken as a pill and does not interact with food or most other drugs. This review looked at eight studies from 2023 and 2024 to understand how well avatrombopag works and how safe it is. The studies included patients with different types and severities of aplastic anemia, including older adults and those with liver problems. Overall, more than half of the patients improved with avatrombopag, and some fully recovered. Most people began feeling better within one to two months. Avatrombopag was helpful even for people who didn’t respond to other treatments. It caused few side effects and did not damage the liver. Some patients even had improved liver function during treatment. These results suggest that avatrombopag is a promising new treatment for aplastic anemia. It may offer a better and safer option for patients, especially those who can’t tolerate other drugs. More research is underway to confirm these findings and explore its role in standard treatment plans.
Publicações recentes
Assessment of characteristics and treatment patterns of adult patients with acquired aplastic anemia in Turkiye (PLANE-TR).
COEXISTENCE OF APLASTIC ANEMIA AND PAROXYSMAL NOCTURNAL HEMOGLOBINURIA: DIAGNOSTIC CHALLENGES AND THERAPEUTIC STRATEGIES - CASE REPORT.
Machine learning mortality prediction model for cyclosporine therapy in pediatric aplastic anemia.
Acute severe cholestatic hepatitis and lymphopenia characterize pediatric hepatitis-associated aplastic anemia.
Hemophagocytic lymphohistiocytosis in the context of hepatitis-associated severe aplastic anemia: A case report.
📚 EuropePMCmostrando 150
Successful Treatment of Aplastic Anemia With Eltrombopag During Pregnancy: A Short Report.
EJHaemAssessment 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 newsMachine learning mortality prediction model for cyclosporine therapy in pediatric aplastic anemia.
Annals of hematologyEfficacy and safety of avatrombopag in aplastic anemia: a comprehensive review of clinical evidence.
Therapeutic advances in hematologyAcute severe cholestatic hepatitis and lymphopenia characterize pediatric hepatitis-associated aplastic anemia.
Journal of pediatric gastroenterology and nutritionCalcineurin 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.
CureusPredicting secondary myeloid neoplasms in acquired aplastic anemia using machine learning models.
Blood neoplasiaHemophagocytic lymphohistiocytosis in the context of hepatitis-associated severe aplastic anemia: A case report.
MedicineAplastic Anemia in Focus: Insights into Diagnosis and Emerging Therapies.
Annals of African medicineEarly 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 immunology[Aplastic anemia in children: recent advances in diagnosis and treatment].
[Rinsho ketsueki] The Japanese journal of clinical hematologyHepatitis-associated Aplastic Anemia in Children: Unraveling Clinical Mysteries in a Single-center Case Series-More Questions Than Answers!
Journal of pediatric hematology/oncologyA decade of acquired aplastic anemia: insights from a Central South African Center.
The Pan African medical journalThe incidence of paroxysmal nocturnal hemoglobinuria cell clones in the Nordic countries.
Annals of hematologyGermline and somatic genetic landscape of pediatric myelodysplastic syndromes.
Haematologica[Recent advances in the treatment of paroxystic nocturnal hemoglobinuria].
La Revue du praticienEltrombopag in combination with immunosuppressive therapy in pediatric severe aplastic anemia: phase 2 ESCALATE trial.
Blood advancesAnchored Indirect Treatment Comparison Finds Comparable Effects of Pegcetacoplan and Iptacopan in Paroxysmal Nocturnal Haemoglobinuria.
European journal of haematologyFrom severe aplastic anemia with TERT variant to Wilson disease - associations or not.
Annals of hematologyTelomere Length and Genetic Variations in Acquired Pediatric Aplastic Anemia: A Flow-FISH Study in Korean Patients.
Diagnostics (Basel, Switzerland)Somatic mutations in Brazilian patients with paroxysmal nocturnal hemoglobinuria: a comprehensive analysis.
Frontiers in medicineCurrent status and perspectives of hematopoietic cell transplantation in patients with paroxysmal nocturnal hemoglobinuria.
Frontiers in immunologyMore Than a Haematoma: A Case of Aplastic Anemia.
CureusSevere aplastic anemia with acquired X chromosome clonality as a sole abnormality.
Annals of hematologyDiagnosis 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)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.
PlateletsSevere 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 diseasesWhole Exome Sequencing of Adult Indians with Apparently Acquired Aplastic Anaemia: Initial Experience at Tertiary Care Hospital.
Diseases (Basel, Switzerland)[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 cancerMethimazole-Induced Pancytopenia in a Patient with Graves' Disease: A Case Report and Literature Review.
Current drug safetyTelomere length and clonal chromosomal alterations in peripheral blood of patients with severe aplastic anaemia.
British journal of haematologyAnti-human leukocyte antigen-DPB1 antibody-associated transfusion-related acute lung injury after hematopoietic stem cell infusion.
Asian journal of transfusion scienceDiagnostic landscape of first-time cytometric screening for paroxysmal nocturnal hemoglobinuria in Poland in 2013-2022.
Orphanet journal of rare diseasesAcquired Aplastic Anemia Therapies: Immunosuppressive Therapy Versus Alternative Donor Hematopoietic Cell Transplantation.
Journal of hematologyA patient with axial spondylarthritis who experienced pancytopenia while receiving anti-TNF therapy.
Clinical rheumatologyDiagnosis and management of acquired aplastic anemia in childhood. Guidelines from the Marrow Failure Study Group of the Pediatric Haemato-Oncology Italian Association (AIEOP).
Blood cells, molecules & diseasesModified Delphi panel consensus recommendations for management of severe aplastic anemia.
Blood advancesQuality of life after immune suppressive therapy in aplastic anemia.
Annals of hematologyTo determine the frequency of aldehyde dehydrogenase type 2 (aldh2) deficiency in aplastic anaemia: A single center experience from pakistan.
Journal of Ayub Medical College, Abbottabad : JAMCInherited bone marrow failure syndromes: phenotype as a tool for early diagnostic suspicion at a major reference center in Mexico.
Frontiers in geneticsRefractory Acquired Amegakaryocytic Thrombocytopenia with Rapid Progression to Aplastic Anaemia in SLE.
Mediterranean journal of rheumatologyThe Australian Aplastic Anaemia and other Bone Marrow Failure Syndromes Registry.
Best practice & research. Clinical haematologyCytogenetics in the management of bone marrow failure syndromes: Guidelines from the Groupe Francophone de Cytogénétique Hématologique (GFCH).
Current research in translational medicineNew-onset aplastic anemia after SARS-CoV-2 vaccination.
International journal of hematologyA Case of Acquired Aplastic Anemia after Severe Hepatitis- Probably Induced by the Pfizer/BioNTech Vaccine: A Case Report and Review of Literature.
VaccinesClinical Presentation of Parvovirus B19 Infection in Adults Living with HIV/AIDS: A Case Series.
VirusesThe efficacy and the safety of eltrombopag in pediatric patients with severe aplastic anemia: a systematic review.
Frontiers in pediatricsChanges in Hematologic Lab Measures Observed in Patients with Paroxysmal Nocturnal Hemoglobinuria Treated with C5 Inhibitors, Ravulizumab and Eculizumab: Real-World Evidence from a US Based EMR Network.
Hematology reportsComparison of hematopoietic stem cell transplantation and immunosuppressive therapy as the first-line treatment option for patients with severe hepatitis-associated aplastic anemia.
Frontiers in immunologyAssociations between bullous pemphigoid and hematological diseases: Literature review on mechanistic connections and possible treatments.
Frontiers in immunologyMesenchymal Stem Cells in Acquired Aplastic Anemia: The Spectrum from Basic to Clinical Utility.
International journal of molecular sciencesRecent advances in the diagnosis and treatment of pediatric acquired aplastic anemia.
International journal of hematologyAllogeneic hematopoietic stem cell transplantation for acquired severe aplastic anemia: a summary of a 20-year experience.
Polish archives of internal medicineRise of the planet of rare anemias: An update on emerging treatment strategies.
Frontiers in medicineAnti-Thymocyte Globulin (ATG)-Free Nonmyeloablative Haploidentical PBSCT Plus Post-Transplantation Cyclophosphamide Is a Safe and Efficient Treatment Approach for Pediatric Acquired Aplastic Anemia.
International journal of molecular sciencesAcquired Amegakaryocytic Thrombocytopenia Progressing to Aplastic Anaemia.
European journal of case reports in internal medicineAssessment of Hepatic Profile in Acquired Aplastic Anemia: An Experience From Pakistan.
CureusThe complement alternative pathway in paroxysmal nocturnal hemoglobinuria: From a pathogenic mechanism to a therapeutic target.
Immunological reviewsRare Presentation of Inflammatory Myofibroblastic Tumor as Intussusception in a Child with Idiopathic Aplastic Anemia.
Journal of Indian Association of Pediatric SurgeonsTherapeutic Potential of Human Immature Dental Pulp Stem Cells Observed in Mouse Model for Acquired Aplastic Anemia.
CellsAplastic anemia induced by human parvovirus B19 infection in an immunocompetent adult male without prior hematological disorders: A case report.
Annals of medicine and surgery (2012)Orphan Drug Use in Patients With Rare Diseases: A Population-Based Cohort Study.
Frontiers in pharmacologyIncidence of acquired pure red cell aplasia: a nationwide epidemiologic analysis with 2 registry databases in Japan.
Blood advancesAcquired aplastic anemia complicated with anti-glomerular basement membrane disease successfully treated with immunosuppressive therapy: a case report.
BMC nephrologyA family with cytotoxic T-lymphocyte-associated protein 4 haploinsufficiency presenting with aplastic anaemia.
BMJ case reportsCase Report: Successful Avatrombopag Treatment for Two Cases of Anti-PD-1 Antibody-Induced Acquired Amegakaryocytic Thrombocytopenia.
Frontiers in pharmacologyHypoplastic myelodysplastic syndrome and acquired aplastic anemia: Immune‑mediated bone marrow failure syndromes (Review).
International journal of oncologySuccessful treatment of acquired amegakaryocytic thrombocytopenia with eltrombopag and immunosuppressant.
PlateletsRadiation-sparing reduced-intensity unrelated umbilical cord blood transplantation for rare hematological disorders in children.
International journal of hematologySpecial issues related to the diagnosis and management of acquired aplastic anemia in countries with restricted resources, a report on behalf of the Eastern Mediterranean blood and marrow transplantation (EMBMT) group and severe aplastic anemia working party of the European Society for blood and marrow transplantation (SAAWP of EBMT).
Bone marrow transplantationWhen Should We Think of Myelodysplasia or Bone Marrow Failure in a Thrombocytopenic Patient? A Practical Approach to Diagnosis.
Journal of clinical medicineHLA class I allele-lacking leukocytes predict rare clonal evolution to MDS/AML in patients with acquired aplastic anemia.
BloodPegcetacoplan versus Eculizumab in Paroxysmal Nocturnal Hemoglobinuria.
The New England journal of medicineHematological immune related adverse events after treatment with immune checkpoint inhibitors.
European journal of cancer (Oxford, England : 1990)Acquired Amegakaryocytic Thrombocytopenia Misdiagnosed as Immune Thrombocytopenia: A Case Report.
The Permanente journalNarrative review of aplastic anemia-the importance of supportive treatment.
Annals of palliative medicineHepatitis-Associated Aplastic Anemia.
Hematology/oncology and stem cell therapyThe Effectiveness of Rapamycin Combined with Eltrombopag in Murine Models of Immune-Mediated Bone Marrow Failure.
Journal of immunology researchTemozolomide-induced aplastic anaemia: Case report and review of the literature.
Journal of oncology pharmacy practice : official publication of the International Society of Oncology Pharmacy PractitionersEven mild hemolysis in paroxysmal nocturnal hemoglobinuria could severely compromise the quality of life due to long-term sustained intolerant fatigue.
Leukemia research reportsStudy for the Diagnostic Screening of Paroxysmal Nocturnal Hemoglobinuria in Older Patients with Unexplained Anemia and/or Cytopenia.
Clinical laboratoryAtypical Outcomes for Hepatitis-associated Acquired Aplastic Anemia: 2 Case Studies and Review of the Literature.
Journal of pediatric hematology/oncologyHepatitis-associated aplastic anemia in pediatric patients: single center experience.
Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for HaemapheresisAplastic anaemia: Current concepts in diagnosis and management.
Journal of paediatrics and child healthAcquired Aplastic Anemia as a Clonal Disorder of Hematopoietic Stem Cells.
Stem cell reviews and reportsRisk factors associated with poor response to immunosuppressive therapy in acquired aplastic anemia: A meta-analysis of retrospective studies.
Experimental and therapeutic medicineLaboratory studies for paroxysmal nocturnal hemoglobinuria, with emphasis on flow cytometry.
Practical laboratory medicineDiagnostic evaluation and considerations in hypocellular bone marrow failure-A focus on genomics.
International journal of laboratory hematologyGenome-wide Association Study Identifies HLA-DPB1 as a Significant Risk Factor for Severe Aplastic Anemia.
American journal of human geneticsClinical impact of dysplastic changes in acquired aplastic anemia: A systematic study of bone marrow biopsies in children and adults.
Annals of diagnostic pathologyHepatitis-associated Aplastic Anemia with Rapid Progression of Liver Fibrosis Due to Repeated Hepatitis.
Internal medicine (Tokyo, Japan)Influence of Mixed Chimerism on Outcome in Children With Anaemia After Haematopoietic Stem Cell Transplantation.
In vivo (Athens, Greece)Autoimmune cytopenias (AIC) following allogeneic haematopoietic stem cell transplant for acquired aplastic anaemia: a joint study of the Autoimmune Diseases and Severe Aplastic Anaemia Working Parties (ADWP/SAAWP) of the European Society for Blood and Marrow Transplantation (EBMT).
Bone marrow transplantationMultimodal Endovascular approach in a Case of Multiple Dural Arteriovenous Fistulae.
Puerto Rico health sciences journalAcquired amegakaryocytic thrombocytopenia as a rare cause of thrombocytopenia during pregnancy.
BMJ case reportsManagement of acquired aplastic anemia in children : A single center experience.
Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for HaemapheresisDesign and development of a disease-specific quality of life tool for patients with aplastic anaemia and/or paroxysmal nocturnal haemoglobinuria (QLQ-AA/PNH)-a report on phase III.
Annals of hematologyHodgkin lymphoma patients have an increased incidence of idiopathic acquired aplastic anemia.
PloS oneOutcomes of paroxysmal nocturnal hemoglobinuria in the pediatric age group in a resource-constrained setting.
Pediatric blood & cancerAplastic Anemia & MDS International Foundation (AA&MDSIF): Bone Marrow Failure Disease Scientific Symposium 2018.
Leukemia researchImpact of germline CTC1 alterations on telomere length in acquired bone marrow failure.
British journal of haematologyHematopoietic Cell Transplantation for Paroxysmal Nocturnal Hemoglobinuria in the Age of Eculizumab.
Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow TransplantationAcquired and germline predisposition to bone marrow failure: Diagnostic features and clinical implications.
Seminars in hematology[Change in paradigm in the treatment of pediatric acquired bone marrow failure syndromes in Hungary].
Orvosi hetilapRevisiting acquired aplastic anaemia: current concepts in diagnosis and management.
Internal medicine journalImmunosuppressive therapy for aplastic anemia: a single-center experience from western India.
Annals of hematologyThe Pathophysiology of Acquired Aplastic Anemia: Current Concepts Revisited.
Hematology/oncology clinics of North AmericaThe histopathology of bone marrow failure in children.
Journal of clinical and experimental hematopathology : JCEHAcquired Aplastic Anemia: What Have We Learned and What Is in the Horizon?
Pediatric clinics of North AmericaRecurrent somatic mutations are rare in patients with cryptic dyskeratosis congenita.
LeukemiaWhy is it necessary to examine retina when the patient suffers from aplastic anemia?
Bratislavske lekarske listyGraves' disease following allogenic hematopoietic stem cell transplantation for severe aplastic anemia: case report and literature review.
Journal of pediatric endocrinology & metabolism : JPEMChronic neutrophilic leukemia, an extremely rare cause of neutrophilia in childhood: Cure with hematopoietic stem cell transplantation.
Pediatric transplantationHepatitis A, cardiomyopathy, aplastic anemia, and acute liver failure: A devastating scenario.
Transplant infectious disease : an official journal of the Transplantation SocietyAcquired Amegakaryocytic Thrombocytopenic Purpura Progressing into Aplastic Anemia.
Prague medical reportAmegakaryocytic Thrombocytopenia and Subsequent Aplastic Anemia Associated with Apparent Epstein-Barr Virus Infection.
Acta haematologicaAcquired ribosomopathies in leukemia and solid tumors.
Hematology. American Society of Hematology. Education ProgramDiagnosis and Treatment of Aplastic Anemia.
Current treatment options in oncologyIncidence and outcome of acquired aplastic anemia: real-world data from patients diagnosed in Sweden from 2000-2011.
Haematologica[Bone marrow failure in childhood: central pathology review of a nationwide registry].
[Rinsho ketsueki] The Japanese journal of clinical hematologyParoxysmal Nocturnal Haemoglobinuria Type III Presenting as Portal and Mesenteric Vein Thrombosis in a Young Girl.
Journal of the College of Physicians and Surgeons--Pakistan : JCPSPT Cell Transcriptomes from Paroxysmal Nocturnal Hemoglobinuria Patients Reveal Novel Signaling Pathways.
Journal of immunology (Baltimore, Md. : 1950)Standardized high-sensitivity flow cytometry testing for paroxysmal nocturnal hemoglobinuria in children with acquired bone marrow failure disorders: A single center US study.
Cytometry. Part B, Clinical cytometrySevere Aplastic Anemia following Parvovirus B19-Associated Acute Hepatitis.
Case reports in hepatologyAllogeneic Hematopoietic Stem Cell Transplant for Severe Aplastic Anemia: Current State and Future Directions.
Current stem cell research & therapyHow I treat acquired aplastic anemia.
Blood[Simultaneous occurrence of autoimmune hemolytic anemia and pure red cell aplasia].
[Rinsho ketsueki] The Japanese journal of clinical hematologyInduced pluripotent stem cell technology: A window for studying the pathogenesis of acquired aplastic anemia and possible applications.
Experimental hematologyDevelopment of a disease-specific quality of life questionnaire for patients with aplastic anemia and/or paroxysmal nocturnal hemoglobinuria (QLQ-AA/PNH)-report on phases I and II.
Annals of hematologyGenetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients.
HaematologicaTreatment of aplastic anaemia with lower-dose anti-thymocyte globulin produces similar response rates and survival as per standard dose anti-thymocyte globulin schedules.
Internal medicine journalImmunosuppressive therapy for patients with Down syndrome and idiopathic aplastic anemia.
International journal of hematologyPresentation and Management of Paroxysmal Nocturnal Hemoglobinuria: A Single-Center Experience.
Hematology reportsPediatric MDS: GATA screen the germline.
BloodNovel Mutation in the DKC1 Gene: Neonatal Hoyeraal-Hreidarsson Syndrome As a Rare Differential Diagnosis in Pontocerebellar Hypoplasia, Primary Microcephaly, and Progressive Bone Marrow Failure.
NeuropediatricsTelomerase gene therapy rescues telomere length, bone marrow aplasia, and survival in mice with aplastic anemia.
BloodFatal Epstein-Barr Virus Reactivation in an Acquired Aplastic Anemia Patient Treated with Rabbit Antithymocyte Globulin and Cyclosporine A.
Case reports in hematologyMutational analysis of telomere complex genes in Indian population with acquired aplastic anemia.
Leukemia researchFlow cytometry screening for paroxysmal nocturnal hemoglobinuria: A single-center experience in Saudi Arabia.
Cytometry. Part B, Clinical cytometryFanconi anemia: a model disease for studies on human genetics and advanced therapeutics.
Current opinion in genetics & developmentChronic myeloid leukemia transformation in a patient with paroxysmal nocturnal hemoglobinuria: a rare case report with literature review.
International journal of clinical and experimental medicine[Aplastic anemia: Current state of diagnosis and treatment].
Der InternistImmunosuppressive therapy for transplant-ineligible aplastic anemia patients.
Expert review of hematologyCerebral venous thrombosis in paroxysmal nocturnal hemoglobinuria: a series of 15 cases and review of the literature.
MedicineAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Aplasia constitucional medular do adulto.
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Aplasia constitucional medular do adulto
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Acute severe cholestatic hepatitis and lymphopenia characterize pediatric hepatitis-associated aplastic anemia.
- Successful Treatment of Aplastic Anemia With Eltrombopag During Pregnancy: A Short Report.
- Assessment of characteristics and treatment patterns of adult patients with acquired aplastic anemia in Turkiye (PLANE-TR).
- Machine learning mortality prediction model for cyclosporine therapy in pediatric aplastic anemia.
- Efficacy and safety of avatrombopag in aplastic anemia: a comprehensive review of clinical evidence.
- COEXISTENCE OF APLASTIC ANEMIA AND PAROXYSMAL NOCTURNAL HEMOGLOBINURIA: DIAGNOSTIC CHALLENGES AND THERAPEUTIC STRATEGIES - CASE REPORT.
- Hemophagocytic lymphohistiocytosis in the context of hepatitis-associated severe aplastic anemia: A case report.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:164823(Orphanet)
- MONDO:0015610(MONDO)
- GARD:20058(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55785593(Wikidata)
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.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
