Introdução
O que você precisa saber de cara
Estomatocitose hereditária descreve uma série de condições humanas herdadas, predominantemente autossômicas dominantes, que afetam os glóbulos vermelhos e criam a aparência de uma área de palidez central em forma de fenda (estomatócito) entre os eritrócitos no esfregaço de sangue periférico. As membranas celulares dos eritrócitos podem "vazar" anormalmente íons de sódio e/ou potássio, causando anormalidades no volume celular. A estomatocitose hereditária deve ser distinguida de causas adquiridas de estomatocitose, incluindo toxicidade por dilantina e alcoolismo, bem como de artefatos do processo de preparo dos esfregaços de sangue periférico.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 55 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 111 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
8 genes identificados com associação a esta condição.
Component of the ankyrin-1 complex, a multiprotein complex involved in the stability and shape of the erythrocyte membrane (PubMed:35835865). Heterotrimer with RHCE (RHAG)2(RHCE), that transports ammonium and its related derivative methylammonium, in both neutral and ionic forms, across the erythrocyte membrane (PubMed:11062476, PubMed:11861637, PubMed:15572441, PubMed:15856280, PubMed:19273840, PubMed:21849667, PubMed:22012326, PubMed:24077989, PubMed:26354748). The transport of NH4(+) is elect
Membrane
Regulator type Rh-null hemolytic anemia
Form of chronic hemolytic anemia in which the red blood cells have a stomatocytosis and spherocytosis morphology, an increased osmotic fragility, an altered ion transport system, and abnormal membrane phospholipid organization.
May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane
Cell membrane
Hemolytic disease of fetus and newborn, RH-induced
A disease that occurs in pregnancies in which mothers who lack the D antigen (RhD) of the Rh blood group have been exposed to the RhD-positive red cells of the fetus. The resulting maternal autoantibodies cross the placenta and destroy fetal red cells.
Component of the ankyrin-1 complex, a multiprotein complex involved in the stability and shape of the erythrocyte membrane (PubMed:35835865). Mediates the primary membrane attachment site for ANK1 when associated with RHAG (PubMed:35835865). May participate in the ammonium and carbon dioxide transport through the heterotrimer form (Probable)
Membrane
Rh-null, amorph type
An autosomal recessive condition characterized by red blood cells that lack all Rh antigens, have increased osmotic fragility, diminished lifespan, and show changes in morphology resulting in stomatocytosis. Rh-null individuals have mild to moderate hemolytic anemia. They are at risk of having adverse reactions in response to transfusion or pregnancy, because they may produce antibodies against several of the Rh antigens.
Intermediate conductance calcium-activated potassium channel that mediates the voltage-independent transmembrane transfer of potassium across the cell membrane through a constitutive interaction with calmodulin which binds the intracellular calcium allowing its opening (PubMed:10026195, PubMed:10961988, PubMed:11425865, PubMed:15831468, PubMed:17157250, PubMed:18796614, PubMed:26148990, PubMed:9326665, PubMed:9380751, PubMed:9407042). The current is characterized by a voltage-independent activat
Cell membraneCell projection, ruffle membrane
Dehydrated hereditary stomatocytosis 2
An autosomal dominant hemolytic anemia characterized by primary erythrocyte dehydration. Erythrocytes exhibit decreased total cation and potassium content that are not accompanied by a proportional net gain of sodium and water. Affected individuals typically manifest mild to moderate compensated hemolytic anemia, with an increased erythrocyte mean corpuscular hemoglobin concentration and a decreased osmotic fragility, both of which reflect cellular dehydration. Their red cells exhibit a panel of various shape abnormalities such as elliptocytes, hemighosts, schizocytes, and very rare stomatocytic cells. Complications such as splenomegaly and cholelithiasis, resulting from increased red cell trapping in the spleen and elevated bilirubin levels, respectively, may occur.
Facilitative glucose transporter, which is responsible for constitutive or basal glucose uptake (PubMed:10227690, PubMed:10954735, PubMed:18245775, PubMed:19449892, PubMed:25982116, PubMed:27078104, PubMed:32860739). Has a very broad substrate specificity; can transport a wide range of aldoses including both pentoses and hexoses (PubMed:18245775, PubMed:19449892). Most important energy carrier of the brain: present at the blood-brain barrier and assures the energy-independent, facilitative trans
Cell membraneMelanosomePhotoreceptor inner segment
GLUT1 deficiency syndrome 1
A neurologic disorder showing wide phenotypic variability. The most severe 'classic' phenotype comprises infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, motor incoordination, and spasticity. Onset of seizures, usually characterized by apneic episodes, staring spells, and episodic eye movements, occurs within the first 4 months of life. Other paroxysmal findings include intermittent ataxia, confusion, lethargy, sleep disturbance, and headache. Varying degrees of cognitive impairment can occur, ranging from learning disabilities to severe intellectual disability.
Pore-forming subunit of the mechanosensitive non-specific cation Piezo channel required for rapidly adapting mechanically activated (MA) currents and has a key role in sensing touch and tactile pain (PubMed:23479567, PubMed:23695678, PubMed:25955826, PubMed:37590348). Piezo channels are homotrimeric three-blade propeller-shaped structures that utilize a cap-motion and plug-and-latch mechanism to gate their ion-conducting pathways (PubMed:37590348). Generates currents characterized by a linear cu
Endoplasmic reticulum membraneEndoplasmic reticulum-Golgi intermediate compartment membraneCell membraneCell projection, lamellipodium membrane
Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema
An autosomal dominant hemolytic anemia characterized by primary erythrocyte dehydration. DHS erythrocytes exhibit decreased total cation and potassium content that are not accompanied by a proportional net gain of sodium and water. DHS patients typically exhibit mild to moderate compensated hemolytic anemia, with an increased erythrocyte mean corpuscular hemoglobin concentration and a decreased osmotic fragility, both of which reflect cellular dehydration. Patients may also show perinatal edema and pseudohyperkalemia due to loss of potassium from red cells stored at room temperature. A minor proportion of red cells appear as stomatocytes on blood films. Complications such as splenomegaly and cholelithiasis, resulting from increased red cell trapping in the spleen and elevated bilirubin levels, respectively, may occur. The course of DHS is frequently associated with iron overload, which may lead to hepatosiderosis.
ATP-dependent transporter that catalyzes the transport of a broad-spectrum of porphyrins from the cytoplasm to the extracellular space through the plasma membrane or into the vesicle lumen (PubMed:17661442, PubMed:23792964, PubMed:27507172, PubMed:33007128). May also function as an ATP-dependent importer of porphyrins from the cytoplasm into the mitochondria, in turn may participate in the de novo heme biosynthesis regulation and in the coordination of heme and iron homeostasis during phenylhydr
Cell membraneMitochondrion outer membraneEndoplasmic reticulum membraneGolgi apparatus membraneEndosome membraneLysosome membraneLate endosome membraneEarly endosome membraneSecreted, extracellular exosomeMitochondrionEndosome, multivesicular body membraneMelanosome membrane
Microphthalmia/Coloboma 7
A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure).
Functions both as a transporter that mediates electroneutral anion exchange across the cell membrane and as a structural protein (PubMed:10926824, PubMed:14734552, PubMed:1538405, PubMed:16227998, PubMed:20151848, PubMed:24121512, PubMed:28387307, PubMed:35835865). Component of the ankyrin-1 complex of the erythrocyte membrane; required for normal flexibility and stability of the erythrocyte membrane and for normal erythrocyte shape via the interactions of its cytoplasmic domain with cytoskeleta
Cell membraneBasolateral cell membrane
Ovalocytosis, Southeast Asian
An autosomal dominant hematologic disorder characterized by ovalocytic erythrocytes that are rigid and exhibit reduced expression of many erythrocyte antigens. Clinical manifestations include mild hemolysis, intermittent jaundice and gallstones. However, the disorder is most often asymptomatic.
Medicamentos e terapias
Mecanismo: Intermediate conductance calcium-activated potassium channel protein 4 blocker
Variantes genéticas (ClinVar)
54 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 191 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
18 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 — Estomatocitose
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
Pesquisa e ensaios clínicos
2 ensaios clínicos encontrados.
Publicações mais relevantes
The Significance of the Piezo1-Mediated Mechanotransduction Pathway in Normal Morphogenesis.
Mechanical forces are fundamental drivers of morphogenesis, yet the molecular mechanisms that convert these physical cues into transcriptional responses remain incompletely understood. This review synthesizes current evidence identifying the mechanosensitive ion channel Piezo1 as a master regulator of developmental processes. The structural and biophysical principles underlying Piezo1 function are highlighted, focusing on its trimeric architecture and force-from-lipids gating mechanism that directly couples membrane tension to Ca2+ influx. Its spatiotemporal expression during embryogenesis is reviewed, and the downstream pathways it activates are examined, including mitogen-activated protein kinase (MAPK) and yes-associated protein/transcriptional co-activator with PDZ-binding moti (YAP/TAZ), alongside crucial crosstalk with canonical morphogen signaling cascades such as Notch, Wntwingless/integrated signaling pathway (Wnt)/beta-catenin (β-catenin), and bone morphogenetic protein/transforming growth factor-beta (BMP/TGF-β). Functional studies across diverse model systems demonstrate that Piezo1 orchestrates conserved morphogenetic events, including vascular and lymphatic patterning, neurogenesis, epithelial morphogenesis, myoblast fusion, and osteogenesis. Human genetic data further underscore its nonredundant role, linking gain-of-function mutations to dehydrated hereditary stomatocytosis and loss-of-function mutations to primary lymphatic dysplasia. Collectively, these findings establish Piezo1 as an essential integrator of mechanical and biochemical signals, central to tissue patterning and organ formation. The review concludes by emphasizing Piezo1's therapeutic potential in regenerative medicine and developmental disorders, while also underscoring the challenges of targeting such a broadly influential mechanosensor.
Clinical clues to recognizing hereditary dehydrated stomatocytosis (DHSt) in children.
Dehydrated hereditary stomatocytosis (DHSt) is a heterogeneous group of rare hemolytic disorders with autosomal dominant inheritance. A series of 20 cases demonstrates that early identification of DHSt can prevent unnecessary interventions and improve the management of anemia, iron overload, and other complications in pediatric and adult patients. The presence of elevated mean corpuscular hemoglobin concentration (MCHC) with resistant erythrocytes suggested a possible association with variants in PIEZO1. Patients with KCNN4 variants showed no clear signs of erythrocyte dehydration, but, as with PIEZO1, macrocytosis, hemolytic anemia, and iron overload were common manifestations. Las estomatocitosis hereditarias deshidratadas (DHSt) constituyen un grupo heterogéneo de trastornos hemolíticos raros con herencia autosómica dominante. Una serie de 20 casos revela cómo la identificación precoz de las DHSt puede evitar intervenciones innecesarias y mejorar el manejo de la anemia, la sobrecarga de hierro y otras complicaciones en pacientes pediátricos y adultos. La presencia de una concentración de hemoglobina corpuscular media (CHCM) elevada con eritrocitos resistentes sugirió una posible asociación con variantes en PIEZO1. Los pacientes con variantes en KCNN4 no mostraron signos claros de deshidratación eritrocitaria, pero, al igual que en PIEZO1, la macrocitosis, la anemia hemolítica y la sobrecarga de hierro fueron manifestaciones frecuentes.
Additive effect of multiple genetic variants in SEC23B and PIEZO1 on iron metabolism dyshomeostasis in hereditary anemias.
Hereditary anemias encompass a genetically heterogeneous spectrum of disorders, often involving multi-locus inheritance, which can complicate clinical management and worsen disease severity. This study investigates the impact of the co-inheritance of SEC23B loss-of-function pathogenic variants, which lead to congenital dyserythropoietic anemia type II (CDA II), and PIEZO1 gain-of-function pathogenic variants, associated with dehydrated hereditary stomatocytosis type I (DHS1), on hematological parameters and iron metabolism. Among 583 patients with suspected hereditary anemia, 13 were found to carry both SEC23B and PIEZO1 variants, leading to a dual diagnosis of CDA II and DHS1. Compared to those with isolated CDA II, these patients exhibited a significantly higher absolute reticulocyte count and bone marrow responsiveness index, alongside an increased prevalence of elevated ferritin levels. Functional studies in Hep3B human hepatoma cells confirmed that SEC23B knockdown combined with PIEZO1 gain-of-function led to marked ferritin accumulation and reduced hepcidin expression, driven by altered BMP/SMAD signaling and ERK1/2 MAPK pathway. These findings demonstrate how multi-locus inheritance can modify disease severity, particularly by exacerbating iron overload. Our results underscore the clinical relevance of comprehensive genetic testing for enhanced risk stratification and personalized management of hereditary anemias.
A Rare Combination of High-Affinity Hemoglobin, Non-Transfusion-Dependent Thalassemia (Αlpha-Triplication and Codon 39 Mutation), and Hereditary Stomatocytosis.
The evolving landscape of hereditary stomatocytosis.
Hereditary stomatocytosis represents a heterogeneous group of inherited erythrocyte membrane defects characterized by hemolytic anemia of variable degree, with alterations in cellular salt and water, ranging from dehydration to overhydration, and the presence of stomatocytes on peripheral blood smear. This condition encompasses various subtypes, each with distinct clinical and genetic features. The pathophysiology underlying these conditions involves altered red blood cell membrane properties, leading to impaired deformability and alterations in cation permeability and volume, causing increased susceptibility to hemolysis. Advancements in genetic testing have enabled the identification of some causative genes in the last years, such as PIEZO1, KCNN4, and ABCB6. These genetic discoveries have facilitated a deeper understanding of the molecular mechanisms underlying the pathogenesis and have paved the way for improved diagnostic accuracy and genetic counseling. This review provides an overview of the clinical presentation, pathophysiology, molecular genetics, diagnosis, and management strategies of hereditary stomatocytosis, highlighting recent advancements in the field of dehydrated hereditary stomatocytosis (DHS), or hereditary xerocytosis, and hepatic iron overload. This latter is directly associated with the physiological role of PIEZO1, the causative gene of DHS, at hepatic and macrophagic levels. Particularly, gain-of-function mutations in PIEZO1 account for a pleiotropic syndrome characterized by different phenotypes depending on the expression of PIEZO1 in multiple cells and tissues.
Publicações recentes
Clinical clues to recognizing hereditary dehydrated stomatocytosis (DHSt) in children.
Additive effect of multiple genetic variants in SEC23B and PIEZO1 on iron metabolism dyshomeostasis in hereditary anemias.
The Significance of the Piezo1-Mediated Mechanotransduction Pathway in Normal Morphogenesis.
A Rare Combination of High-Affinity Hemoglobin, Non-Transfusion-Dependent Thalassemia (Αlpha-Triplication and Codon 39 Mutation), and Hereditary Stomatocytosis.
[Dehydrated hereditary stomatocytosis in 23 cases: a single-center retrospective cohort study from Peking Union Medical College Hospital (2018-2024)].
📚 EuropePMC105 artigos no totalmostrando 85
Clinical clues to recognizing hereditary dehydrated stomatocytosis (DHSt) in children.
Archivos argentinos de pediatriaAdditive effect of multiple genetic variants in SEC23B and PIEZO1 on iron metabolism dyshomeostasis in hereditary anemias.
HemaSphereThe Significance of the Piezo1-Mediated Mechanotransduction Pathway in Normal Morphogenesis.
DNA and cell biologyA Rare Combination of High-Affinity Hemoglobin, Non-Transfusion-Dependent Thalassemia (Αlpha-Triplication and Codon 39 Mutation), and Hereditary Stomatocytosis.
American journal of hematology[Dehydrated hereditary stomatocytosis in 23 cases: a single-center retrospective cohort study from Peking Union Medical College Hospital (2018-2024)].
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhiClinical and Genetic Analysis of Dehydrated Hereditary Stomatocytosis: A Case Report.
Clinical case reportsDiagnosis of Dehydrated Hereditary Stomatocytosis in a 60-Year-Old Female Patient.
CureusConcurrent Case of Glucose-6-Phosphate Deficiency and Dehydrated Hereditary Stomatocytosis in a 4-Month-old Boy.
Journal of pediatric hematology/oncologyNovel compound heterozygous PIEZO1 variants in dehydrated hereditary stomatocytosis initially suspected as myelodysplastic syndromes: a case report.
Frontiers in oncologyA Chinese pediatric patient with thalassemia traits and compound heterozygous mutations in the PIEZO1 gene suspected of having dehydrated hereditary stomatocytosis.
Hematology (Amsterdam, Netherlands)Dehydrated Hereditary Stomatocytosis (DHS): A Rare Inherited Hemolytic Disorder With Unusual Hypochromic Microcytic Anemia.
CureusThe evolving landscape of hereditary stomatocytosis.
BloodDehydrated Hereditary Stomatocytosis in a Very Preterm Twin.
Pediatric blood & cancerMyelodysplastic syndrome with ring chromosomes in a case of dehydrated hereditary stomatocytosis 1 (DHS1).
International journal of hematologyHereditary Hemolytic Anemia Due to PIEZO1 Red Blood Cell Membrane Defect.
HemoglobinRAS signaling pathway is essential in regulating PIEZO1-mediated hepatic iron overload in dehydrated hereditary stomatocytosis.
American journal of hematologyHereditary stomatocytosis in the general population: A genetically based prevalence estimate from a 109 039 individual Danish cohort.
American journal of hematologyModifiable lifestyle factors influencing psychiatric disorders mediated by plasma proteins: A systemic Mendelian randomization study.
Journal of affective disordersTransient presence of stomatocytes: A clue to the diagnosis of overhydrated hereditary stomatocytosis in a child with beta-thalassemia.
Journal of clinical laboratory analysisThe cation-leaky hereditary stomatocytosis syndromes: A tale of six proteins.
British journal of haematologyDehydrated hereditary stomatocytosis masquerading as primary haemochromatosis: a diagnostic challenge.
PathologySequence Similarity among Structural Repeats in the Piezo Family of Mechanosensitive Ion Channels.
Microbial physiologyA critical role for altered red cell cation permeability in pathogenesis of sickle cell disease and other haemolytic anaemias.
British journal of haematologyOverhydrated hereditary stomatocytosis: A rare cause of familiar persistent macrocytosis due to SLC4A1 variants.
Pediatric blood & cancerJuvenile Hemochromatosis With Non-transfused Hemolytic Anemia Caused by a De Novo PIEZO1 Gene Mutation.
Journal of pediatric hematology/oncologyVariant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis.
Human genome variationProteome alterations in erythrocytes with PIEZO1 gain-of-function mutations.
Blood advancesStructural and mutational studies suggest key residues to determine whether stomatin SPFH domains form dimers or trimers.
Biochemistry and biophysics reportsA Gardos channelopathy associated with nonimmune hydrops and fetal loss.
Clinical geneticsMechanosensitive Pannexin 1 Activity Is Modulated by Stomatin in Human Red Blood Cells.
International journal of molecular sciencesNew KCNN4 Variants Associated With Anemia: Stomatocytosis Without Erythrocyte Dehydration.
Frontiers in physiologyDiagnosing dehydrated hereditary stomatocytosis due to a KCNN4 Gardos channel mutation: understanding challenges through study of a multi-generational family.
EJHaemGlobal PIEZO1 Gain-of-Function Mutation Causes Cardiac Hypertrophy and Fibrosis in Mice.
CellsReticulocyte Maturation and Variant Red Blood Cells.
Frontiers in physiologyConfounding factors in the diagnosis and clinical course of rare congenital hemolytic anemias.
Orphanet journal of rare diseasesPIEZO1-gene gain-of-function mutations with lower limb lymphedema onset in an adult: Clinical, scintigraphic, and noncontrast magnetic resonance lymphography findings.
American journal of medical genetics. Part A[Diagnosis of congenital hemolytic anemia by comprehensive gene analysis: significance and limitations].
[Rinsho ketsueki] The Japanese journal of clinical hematologyComplex Modes of Inheritance in Hereditary Red Blood Cell Disorders: A Case Series Study of 155 Patients.
GenesCharacterisation of Asp669Tyr Piezo1 cation channel activity in red blood cells: an unexpected phenotype.
British journal of haematologyTrends in Piezo Channel Research Over the Past Decade: A Bibliometric Analysis.
Frontiers in pharmacologyPIEZO1 mutation: a rare aetiology for fetal ascites.
BMJ case reportsTargeted Next Generation Sequencing (NGS) to Diagnose Hereditary Hemolytic Anemias.
International journal of hematology-oncology and stem cell researchA novel PIEZO1 mutation in a patient with dehydrated hereditary stomatocytosis: a case report and a brief review of literature.
Italian journal of pediatrics[Pathogenesis and diagnosis of hereditary stomatocytosis].
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhiLow HbA1c With Normal Hemoglobin in a Diabetes Patient Caused by PIEZO1 Gene Variant: A Case Report.
Frontiers in endocrinologyInactive dimeric structure of the protease domain of stomatin operon partner protein.
Acta crystallographica. Section D, Structural biologyExpression of South East Asian Ovalocytic Band 3 Disrupts Erythroblast Cytokinesis and Reticulocyte Maturation.
Frontiers in physiologyRBCs prevent rapid PIEZO1 inactivation and expose slow deactivation as a mechanism of dehydrated hereditary stomatocytosis.
Blood[A case of hereditary stomatocytosis with Gilbert syndrome and secondary hemochromatosis].
Zhonghua nei ke za zhiGain-of-function mutations in PIEZO1 directly impair hepatic iron metabolism via the inhibition of the BMP/SMADs pathway.
American journal of hematologyAdvances in understanding the pathogenesis of red cell membrane disorders.
British journal of haematology[Hereditary stomatocytosis with PIEZO1 gene mutations: report of five cases and literature review].
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhiDehydrated hereditary stomatocytosis: clinical perspectives.
Journal of blood medicine[Red cell membrane disorders and thalassemia].
[Rinsho ketsueki] The Japanese journal of clinical hematologyPIEZO1 Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood Cells.
Frontiers in physiologyFluorescence microscopy of piezo1 in droplet hydrogel bilayers.
Channels (Austin, Tex.)Dietary fatty acids fine-tune Piezo1 mechanical response.
Nature communicationsHereditary stomatocytosis: an unusual cause of severe neonatal jaundice.
Singapore medical journalGenotype-phenotype correlation and risk stratification in a cohort of 123 hereditary stomatocytosis patients.
American journal of hematologyInherited or acquired modifiers of iron status may dramatically affect the phenotype in dehydrated hereditary stomatocytosis.
European journal of haematologyDehydrated Hereditary Stomatocytosis Presenting as Severe Perinatal Ascites and Cholestasis.
Journal of pediatric gastroenterology and nutritionTargeted next generation sequencing for the diagnosis of patients with rare congenital anemias.
European journal of haematologyDehydrated hereditary stomatocytosis causing fetal hydrops and perinatal ascites.
British journal of haematologyUse of Laser Assisted Optical Rotational Cell Analyzer (LoRRca MaxSis) in the Diagnosis of RBC Membrane Disorders, Enzyme Defects, and Congenital Dyserythropoietic Anemias: A Monocentric Study on 202 Patients.
Frontiers in physiologyThe Molecular Basis for Altered Cation Permeability in Hereditary Stomatocytic Human Red Blood Cells.
Frontiers in physiologyDehydrated hereditary stomatocytosis: Prenatal management of ascites and pleural effusions.
Taiwanese journal of obstetrics & gynecologyHuman phenotypes caused by PIEZO1 mutations; one gene, two overlapping phenotypes?
The Journal of physiologyImportance of the Average Glucose Level and Estimated Glycated Hemoglobin in a Diabetic Patient with Hereditary Hemolytic Anemia and Liver Cirrhosis.
Internal medicine (Tokyo, Japan)PIEZO1-R1864H rare variant accounts for a genetic phenotype-modifier role in dehydrated hereditary stomatocytosis.
HaematologicaHereditary stomatocytosis: An underdiagnosed condition.
American journal of hematology[A Review of 7 Cases of Laparoscopic Cholecystectomy for Pediatric Cholecystolithiasis].
Journal of UOEH[Clinical features of hereditary stomatocytosis: 12 cases report and literatures review].
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi'Gardos Channelopathy': a variant of hereditary Stomatocytosis with complex molecular regulation.
Scientific reportsRed cell membrane disorders.
International journal of laboratory hematologyNew insights on hereditary erythrocyte membrane defects.
HaematologicaA hypothesis of target cell formation in sickle cell disease.
Medical hypothesesRed blood cell-derived microparticles: An overview.
Blood cells, molecules & diseasesBand 3, the human red cell chloride/bicarbonate anion exchanger (AE1, SLC4A1), in a structural context.
Biochimica et biophysica actaPIEZO1 gene mutation in a Japanese family with hereditary high phosphatidylcholine hemolytic anemia and hemochromatosis-induced diabetes mellitus.
International journal of hematologyDehydrated hereditary stomatocytosis.
American journal of hematologyImpaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia.
Nature communicationsNovel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.
Nature communicationsNovel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis).
American journal of hematologyDehydrated hereditary stomatocytosis masquerading as MDS.
BloodICSH guidelines for the laboratory diagnosis of nonimmune hereditary red cell membrane disorders.
International journal of laboratory hematologyAssociações
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Comunidades
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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.
- The Significance of the Piezo1-Mediated Mechanotransduction Pathway in Normal Morphogenesis.
- Clinical clues to recognizing hereditary dehydrated stomatocytosis (DHSt) in children.
- Additive effect of multiple genetic variants in SEC23B and PIEZO1 on iron metabolism dyshomeostasis in hereditary anemias.
- A Rare Combination of High-Affinity Hemoglobin, Non-Transfusion-Dependent Thalassemia (Αlpha-Triplication and Codon 39 Mutation), and Hereditary Stomatocytosis.
- The evolving landscape of hereditary stomatocytosis.
- [Dehydrated hereditary stomatocytosis in 23 cases: a single-center retrospective cohort study from Peking Union Medical College Hospital (2018-2024)].
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:98365(Orphanet)
- MONDO:0020102(MONDO)
- GARD:19456(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q3973817(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
