A Eliptocitose Hereditária (HE) é uma doença rara com causas genéticas diversas e que se manifesta de maneiras variadas nos pacientes. Ela afeta a membrana dos glóbulos vermelhos e pode causar desde sintomas leves até uma anemia hemolítica grave que exige transfusões de sangue. No entanto, a maioria dos pacientes não apresenta sintomas.
Introdução
O que você precisa saber de cara
A Eliptocitose Hereditária (HE) é uma doença rara com causas genéticas diversas e que se manifesta de maneiras variadas nos pacientes. Ela afeta a membrana dos glóbulos vermelhos e pode causar desde sintomas leves até uma anemia hemolítica grave que exige transfusões de sangue. No entanto, a maioria dos pacientes não apresenta sintomas.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 25 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 36 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
5 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive.
Protein 4.1 is a major structural element of the erythrocyte membrane skeleton. It plays a key role in regulating membrane physical properties of mechanical stability and deformability by stabilizing spectrin-actin interaction. Recruits DLG1 to membranes. Required for dynein-dynactin complex and NUMA1 recruitment at the mitotic cell cortex during anaphase (PubMed:23870127)
Cytoplasm, cytoskeletonCytoplasm, cell cortexNucleus
Elliptocytosis 1
A Rhesus-linked form of hereditary elliptocytosis, a genetically heterogeneous, autosomal dominant hematologic disorder. It is characterized by variable hemolytic anemia and elliptical or oval red cell shape.
Spectrin is the major constituent of the cytoskeletal network underlying the erythrocyte plasma membrane. It associates with band 4.1 and actin to form the cytoskeletal superstructure of the erythrocyte plasma membrane
Cytoplasm, cytoskeletonCytoplasm, cell cortex
Elliptocytosis 3
A Rhesus-unlinked form of hereditary elliptocytosis, a genetically heterogeneous hematologic disorder characterized by variable hemolytic anemia and elliptical or oval red cell shape. Inheritance can be autosomal dominant or autosomal recessive.
This protein is a minor sialoglycoprotein in human erythrocyte membranes. The blood group Gerbich antigens and receptors for Plasmodium falciparum merozoites are most likely located within the extracellular domain. Glycophorin-C plays an important role in regulating the stability of red cells
Cell membrane
Spectrin is the major constituent of the cytoskeletal network underlying the erythrocyte plasma membrane. It associates with band 4.1 and actin to form the cytoskeletal superstructure of the erythrocyte plasma membrane
Cytoplasm, cytoskeletonCytoplasm, cell cortex
Elliptocytosis 2
A Rhesus-unlinked form of hereditary elliptocytosis, a genetically heterogeneous, autosomal dominant hematologic disorder. It is characterized by variable hemolytic anemia and elliptical or oval red cell shape.
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.
Variantes genéticas (ClinVar)
625 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 1 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
10 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 — Eliptocitose hereditária
Selecione um estado ou use sua localização para ver resultados.
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
Hereditary red cell defects as an underrecognized cause of neonatal jaundice.
Neonatal jaundice is most commonly caused by blood group incompatibility but may also result from hereditary elliptocytosis (HE) associated with heterozygous SPTB mutations. A retrospective descriptive study was conducted among 1,584 neonates presenting with jaundice over a 3-year period. Seventy-six neonates (4.8%) were diagnosed with HE, all carrying heterozygous SPTB mutations (Providence variant, n = 67; Buffalo variant, n = 9). Five had coexisting hemoglobinopathies. Early-onset jaundice occurred in 71 patients, with a median onset of 38 h. Peak total bilirubin levels ranged from 12.2 to 22.3 mg/dL. Most neonates required single phototherapy; seven required double phototherapy, and none underwent exchange transfusion. Anemia developed in 23 patients, of whom 17 required red cell transfusion. HE is an under-recognized cause of early-onset neonatal jaundice and anemia. Despite early hyperbilirubinemia, most neonates have a benign clinical course with minimal long-term complications and infrequent need for transfusion.
Crossed Erythrocytes Agglutination Pattern Observed in a Patient With Hereditary Elliptocytosis.
Frameshift Mutation in the EPB41 Gene with Hereditary Elliptocytosis.
Parvovirus B19-induced autoimmune hemolytic anemia in hereditary elliptocytosis.
A Male Child With Combined Glucose-6-Phosphate Dehydrogenase Deficiency and Hereditary Elliptocytosis: The First Case Reported From Saudi Arabia.
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzyme defect, predisposing individuals to acute hemolytic anemia upon oxidative stress. Hereditary elliptocytosis (HE) is a distinct, typically autosomal dominant disorder caused by red blood cell (RBC) membrane skeleton defects, leading to chronic hemolysis. The co-occurrence of G6PD deficiency and HE is exceedingly rare, often resulting in more severe and complicated clinical presentations. Here we report the first case of a five-year-old Saudi male from a consanguineous marriage who presented in the neonatal period with G6PD deficiency and recurrent hemolytic crises, including a severe episode following circumcision. At age five, he exhibited persistent severe anemia (hemoglobin 5.8 g/dl), chronic hemolysis (reticulocyte count 14.4), and significant hepatosplenomegaly. Next-generation sequencing (NGS) provided a rapid and conclusive molecular diagnosis by identifying the genetic mutations for both disorders.
Publicações recentes
Cooley's Legacy Endures-Elliptocytes in X-Linked Sideroblastic Anemia due to Aminolevulinate Synthase 2 Mutations.
Hereditary red cell defects as an underrecognized cause of neonatal jaundice.
Crossed Erythrocytes Agglutination Pattern Observed in a Patient With Hereditary Elliptocytosis.
A Male Child With Combined Glucose-6-Phosphate Dehydrogenase Deficiency and Hereditary Elliptocytosis: The First Case Reported From Saudi Arabia.
Hereditary elliptocytosis in a child with an autosomal recessive SPTA1 mutation: a case report from Saudi Arabia.
📚 EuropePMC248 artigos no totalmostrando 80
Hereditary red cell defects as an underrecognized cause of neonatal jaundice.
Journal of perinatology : official journal of the California Perinatal AssociationCrossed Erythrocytes Agglutination Pattern Observed in a Patient With Hereditary Elliptocytosis.
International journal of laboratory hematologyA Male Child With Combined Glucose-6-Phosphate Dehydrogenase Deficiency and Hereditary Elliptocytosis: The First Case Reported From Saudi Arabia.
CureusHereditary elliptocytosis in a child with an autosomal recessive SPTA1 mutation: a case report from Saudi Arabia.
Journal of medicine and lifeFrameshift Mutation in the EPB41 Gene with Hereditary Elliptocytosis.
Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood TransfusionHereditary Elliptocytosis Resulting From Heterozygosity for β Spectrin Tandil.
American journal of hematologyHereditary Pyropoikilocytosis as a Modifier of Sickle Cell Disease Severity.
Journal of pediatric hematology/oncologyUnraveling biochemical differences in the membrane of functional RBCs and elliptocytes using vortex beam-based micro-Raman spectroscopy.
Spectrochimica acta. Part A, Molecular and biomolecular spectroscopyParvovirus B19-induced autoimmune hemolytic anemia in hereditary elliptocytosis.
BloodA rare case report of hemolysis in a newborn: hereditary elliptocytosis.
Frontiers in pediatricsTrans-acting genetic modifiers of clinical severity in heterozygous β-Thalassemia trait.
Annals of hematology[Effect of Staphylococcal Nuclease and Tudor Domain Containing 1/SLC7A11 on the Occurrence and Development of Osteosarcoma by Inhibiting Ferroptosis].
Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae SinicaeIn vitro cytotoxicity of magnetic-fluorescent bioactive glasses on SaOS-2, MC3T3-E1, BJ fibroblast cells, their hemolytic activity, and sorafenib release behavior.
Biomaterials advancesEffects of Daidzein, Tempeh, and a Probiotic Digested in an Artificial Gastrointestinal Tract on Calcium Deposition in Human Osteoblast-like Saos-2 Cells.
International journal of molecular sciencesExosome microRNA-22 inhibiting proliferation, migration and invasion through regulating Twist1/CADM1 axis in osteosarcoma.
Scientific reportsCase report: Whole-exome sequencing for a hereditary elliptocytosis case with an unexpectedly low HbA1c.
Frontiers in medicineMolecular characteristics of hereditary red blood cell membrane disorders in Thailand: a multi-center registry.
Annals of hematologyMolecular insights into hereditary elliptocytosis and pyropoikilocytosis: NGS uncovers multiple potential candidate genes.
Annals of hematologyAcquired elliptocytosis in chronic myeloid neoplasms: An enigmatic relationship to acquired red cell membrane protein and genetic abnormalities.
Blood cells, molecules & diseases[Clinical and gene mutation characteristics of patients with hereditary ellipsocytosis: nine cases report and literature review].
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhiEDTA-dependent leucoagglutination in a child with hereditary elliptocytosis and Mycoplasma pneumoniae infection.
Pediatric blood & cancerAssociation between ovalocytosis and Plasmodium infection: a systematic review and meta-analysis.
Scientific reportsHereditary elliptocytosis: A novel mutation in the SPTA1 gene and diagnosis after a stroke in paediatric patients. A two-case report.
Pediatric blood & cancerA large family of hereditary spherocytosis and a rare case of hereditary elliptocytosis with a novel SPTA1 mutation underdiagnosed in Taiwan: A case report and literature review.
MedicineMembrane skeleton hyperstability due to a novel alternatively spliced 4.1R can account for ellipsoidal camelid red cells with decreased deformability.
The Journal of biological chemistryImpaired trafficking and instability of mutant kidney anion exchanger 1 proteins associated with autosomal recessive distal renal tubular acidosis.
BMC medical genomicsBand 3-mediated Plasmodium vivax invasion is associated with transcriptional variation in PvTRAg genes.
Frontiers in cellular and infection microbiologyClinical features and genetic variations of severe neonatal hyperbilirubinemia: Five case reports.
World journal of clinical casesUnravelling the genetic and phenotypic heterogeneity of SPTA1 gene variants in Hereditary Elliptocytosis and Hereditary Pyropoikilocytosis patients using next-generation sequencing.
GeneRed cell ektacytometry in two patients with chronic hemolytic anemia and three new α-spectrin variants.
Annals of hematologyPersistent neonatal jaundice resulting from hereditary pyropoikilocytosis.
American journal of hematologyFamilial genotypic and phenotypic heterogeneity and its implications on genetic counseling exemplified in two cases of hereditary pyropoikilocytosis/erythrocytic spectrin-linked hemolytic anemia masquerading as congenital dyserythropoietic anemia.
Pediatric blood & cancerClinical and molecular genetic analysis of a Chinese family with hereditary elliptocytosis caused by a novel mutation in the EPB41 gene.
Journal of clinical laboratory analysisAcute lymphoblastic leukaemia in a child with hereditary elliptocytosis.
International journal of laboratory hematologyA novel EPB41 p.Trp704* mutation in a Korean patient with hereditary elliptocytosis: a case report.
Hematology (Amsterdam, Netherlands)Aberrant Membrane Composition and Biophysical Properties Impair Erythrocyte Morphology and Functionality in Elliptocytosis.
BiomoleculesClinical Diagnosis of Red Cell Membrane Disorders: Comparison of Osmotic Gradient Ektacytometry and Eosin Maleimide (EMA) Fluorescence Test for Red Cell Band 3 (AE1, SLC4A1) Content for Clinical Diagnosis.
Frontiers in physiologyDizygotic twins with prolonged jaundice and microcytic, hypochromic, hemolytic anemia with pyropoikilocytosis.
Blood cells, molecules & diseasesThe spectrin-based membrane skeleton is asymmetric and remodels during neural development in C. elegans.
Journal of cell scienceDifferential diagnosis of hereditary hemolytic anemias in a single multiscreening test by TGA/chemometrics.
Chemical communications (Cambridge, England)Development of a novel test for the identification of hereditary erythrocyte membrane defects by TGA/Chemometrics.
The AnalystA Novel α-Spectrin Pathogenic Variant in Trans to α-Spectrin LELY Causing Neonatal Jaundice With Hemolytic Anemia From Hereditary Pyropoikilocytosis Coexisting With Gilbert Syndrome.
Journal of pediatric hematology/oncology[Identification of a Novel Mutation of EPB41 Gene in a Family Affected with Hereditary Elliptocytosis].
Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science editionApplications of imaging flow cytometry in the diagnostic assessment of red cell membrane disorders.
Cytometry. Part B, Clinical cytometryAdvances in understanding the pathogenesis of red cell membrane disorders.
British journal of haematologySpectrin-based membrane skeleton supports ciliogenesis.
PLoS biologyNewborn hereditary elliptocytosis confirmed by familial genetic testing.
International journal of laboratory hematologyHereditary spherocytosis is associated with decreased pyruvate kinase activity due to impaired structural integrity of the red blood cell membrane.
British journal of haematologyHereditary elliptocytosis with variable expression and incomplete penetrance in a Chinese family.
British journal of haematologyA novel mutation in SPTA1 identified by whole exome sequencing in a Chinese family for hereditary elliptocytosis presenting with hyperbilirubinemia: A case report.
MedicineHereditary elliptocytosis of donor red blood cell unit detected during Coombs crossmatch.
TransfusionInherited hemolytic anemia: a possessive beginner's guide.
Hematology. American Society of Hematology. Education ProgramHereditary elliptocytosis-associated alpha-spectrin mutation p.L155dup as a modifier of sickle cell disease severity.
Pediatric blood & cancerHereditary Elliptocytosis: A Rare Red Cell Membrane Disorder.
Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood TransfusionWhole-exome sequencing for the genetic diagnosis of congenital red blood cell membrane disorders in Taiwan.
Clinica chimica acta; international journal of clinical chemistry[Analysis of SPTA1 gene mutations in a patient with hereditary elliptocytosis].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsWhole-exome sequencing enables correct diagnosis and surgical management of rare inherited childhood anemia.
Cold Spring Harbor molecular case studiesMechanics of diseased red blood cells in human spleen and consequences for hereditary blood disorders.
Proceedings of the National Academy of Sciences of the United States of AmericaUse 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 physiologyHereditary elliptocytosis: Variable clinical severity caused by 3 variants in the α-spectrin gene.
International journal of laboratory hematologyNovel compound heterozygous SPTA1 mutations in a patient with hereditary elliptocytosis.
Molecular medicine reportsOsmotic gradient ektacytometry: A valuable screening test for hereditary spherocytosis and other red blood cell membrane disorders.
International journal of laboratory hematologyClinico-Haematological Profile of Hereditary Haemolytic Anaemias in a Tertiary Health Care Hospital in South India.
Journal of clinical and diagnostic research : JCDRThe frequency of occurrence of fish-shaped red blood cells in different haematologic disorders.
Clinical chemistry and laboratory medicineNovel mutations in patients with hereditary red blood cell membrane disorders using next-generation sequencing.
GeneRed cell membrane disorders.
International journal of laboratory hematologyCoinheritance of Hereditary Elliptocytosis and Deletional Hemoglobin H Disease.
Journal of pediatric hematology/oncologyGenotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis.
Blood cells, molecules & diseasesExome sequencing results in successful diagnosis and treatment of a severe congenital anemia.
Cold Spring Harbor molecular case studiesRed blood cell-derived microparticles: An overview.
Blood cells, molecules & diseasesModeling of band-3 protein diffusion in the normal and defective red blood cell membrane.
Soft matterMutational characteristics of ANK1 and SPTB genes in hereditary spherocytosis.
Clinical geneticsAnalysis of Hereditary Elliptocytosis with Decreased Binding of Eosin-5-maleimide to Red Blood Cells.
BioMed research internationalThe human Kell blood group binds the erythroid 4.1R protein: new insights into the 4.1R-dependent red cell membrane complex.
British journal of haematologyHereditary Elliptocytosis with Pyropoikilocytosis.
Turkish journal of haematology : official journal of Turkish Society of HaematologyVesiculation of healthy and defective red blood cells.
Physical review. E, Statistical, nonlinear, and soft matter physics[Band 3 deficiency as a cause of hereditary spherocytosis].
[Rinsho ketsueki] The Japanese journal of clinical hematology[Hereditary red cell membrane disorders in Japan: comparison with other countries].
[Rinsho ketsueki] The Japanese journal of clinical hematology[Erythrocyte membrane abnormalities - hereditary elliptocytosis].
Georgian medical newsICSH guidelines for the laboratory diagnosis of nonimmune hereditary red cell membrane disorders.
International journal of laboratory hematologyAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
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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.
- Hereditary red cell defects as an underrecognized cause of neonatal jaundice.Journal of perinatology : official journal of the California Perinatal Association· 2026· PMID 41840148mais citado
- Crossed Erythrocytes Agglutination Pattern Observed in a Patient With Hereditary Elliptocytosis.
- Frameshift Mutation in the EPB41 Gene with Hereditary Elliptocytosis.Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion· 2025· PMID 40687448mais citado
- Parvovirus B19-induced autoimmune hemolytic anemia in hereditary elliptocytosis.
- A Male Child With Combined Glucose-6-Phosphate Dehydrogenase Deficiency and Hereditary Elliptocytosis: The First Case Reported From Saudi Arabia.
- Cooley's Legacy Endures-Elliptocytes in X-Linked Sideroblastic Anemia due to Aminolevulinate Synthase 2 Mutations.
- Hereditary elliptocytosis in a child with an autosomal recessive SPTA1 mutation: a case report from Saudi Arabia.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:288(Orphanet)
- MONDO:0017319(MONDO)
- GARD:6621(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q2298020(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
