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Eliptocitose hereditária
ORPHA:288CID-10 · D58.1CID-11 · 3A10.2DOENÇA RARA

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.

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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.

Publicações científicas
408 artigos
Último publicado: 2026 Apr 2

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-5 / 10 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Início
All ages
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: D58.1
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (1)
0202010317
Eletroforese de hemoglobinaslab_test
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🩸
Sangue
4 sintomas
🫃
Digestivo
2 sintomas
🧬
Pele e cabelo
1 sintomas
📏
Crescimento
1 sintomas
😀
Face
1 sintomas
🦴
Ossos e articulações
1 sintomas

+ 25 sintomas em outras categorias

Características mais comuns

100%prev.
Morfologia eritrocitária anormal
55%prev.
Aumento da fragilidade osmótica dos glóbulos vermelhos
Frequente (79-30%)
55%prev.
Eliptocitose
Frequente (79-30%)
17%prev.
Hiperbilirrubinemia neonatal
Ocasional (29-5%)
17%prev.
Reticulocitose
Ocasional (29-5%)
17%prev.
Úlcera cutânea
Ocasional (29-5%)
36sintomas
Muito frequente (1)
Frequente (2)
Ocasional (13)
Muito raro (7)
Sem dados (13)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 36 características clínicas mais associadas, ordenadas por frequência.

Morfologia eritrocitária anormalAbnormal erythrocyte morphology
Muito frequente100%
Aumento da fragilidade osmótica dos glóbulos vermelhosIncreased red cell osmotic fragility
Frequente (79-30%)55%
EliptocitoseElliptocytosis
Frequente (79-30%)55%
Hiperbilirrubinemia neonatalNeonatal hyperbilirubinemia
Ocasional (29-5%)17%
ReticulocitoseReticulocytosis
Ocasional (29-5%)17%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico408PubMed
Últimos 10 anos80publicações
Pico201811 papers
Linha do tempo
2026Hoje · 2026🧪 2008Primeiro ensaio clínico📈 2018Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

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.

EPB41Protein 4.1Disease-causing germline mutation(s) inTolerante
FUNÇÃO

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)

LOCALIZAÇÃO

Cytoplasm, cytoskeletonCytoplasm, cell cortexNucleus

VIAS BIOLÓGICAS (1)
Neurexins and neuroligins
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Cérebro - Hemisfério cerebelar
91.5 TPM
Cerebelo
83.3 TPM
Sangue
18.4 TPM
Intestino delgado
16.0 TPM
Baço
15.0 TPM
OUTRAS DOENÇAS (2)
elliptocytosis 1hereditary elliptocytosis
HGNC:3377UniProt:P11171
SPTBSpectrin beta chain, erythrocyticDisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

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

LOCALIZAÇÃO

Cytoplasm, cytoskeletonCytoplasm, cell cortex

VIAS BIOLÓGICAS (4)
RAF/MAP kinase cascadeNCAM signaling for neurite out-growthCOPI-mediated anterograde transportInteraction between L1 and Ankyrins
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Músculo esquelético
94.2 TPM
Cérebro - Hemisfério cerebelar
49.6 TPM
Cerebelo
42.4 TPM
Coração - Átrio
16.7 TPM
Coração - Ventrículo esquerdo
13.3 TPM
OUTRAS DOENÇAS (4)
hereditary spherocytosis type 2elliptocytosis 3hereditary spherocytosishereditary elliptocytosis
HGNC:11274UniProt:P11277
GYPCGlycophorin-CDisease-causing germline mutation(s) inTolerante
FUNÇÃO

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

LOCALIZAÇÃO

Cell membrane

VIAS BIOLÓGICAS (1)
Cell surface interactions at the vascular wall
EXPRESSÃO TECIDUAL(Ubíquo)
Sangue
324.5 TPM
Adipose Visceral Omentum
84.5 TPM
Aorta
75.2 TPM
Tecido adiposo
73.6 TPM
Cervix Ectocervix
72.3 TPM
OUTRAS DOENÇAS (3)
obsolete blood group, gerbich systemhereditary elliptocytosismalaria, susceptibility to
HGNC:4704UniProt:P04921
SPTA1Spectrin alpha chain, erythrocytic 1Disease-causing germline mutation(s) inTolerante
FUNÇÃO

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

LOCALIZAÇÃO

Cytoplasm, cytoskeletonCytoplasm, cell cortex

VIAS BIOLÓGICAS (4)
RAF/MAP kinase cascadeNCAM signaling for neurite out-growthCOPI-mediated anterograde transportInteraction between L1 and Ankyrins
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Baixa expressão)
Testículo
2.2 TPM
Sangue
1.1 TPM
Baço
0.7 TPM
Tecido adiposo
0.2 TPM
Mama
0.2 TPM
OUTRAS DOENÇAS (5)
hereditary spherocytosis type 3pyropoikilocytosis, hereditaryelliptocytosis 2hereditary spherocytosis
HGNC:11272UniProt:P02549
SLC4A1Band 3 anion transport proteinDisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

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

LOCALIZAÇÃO

Cell membraneBasolateral cell membrane

VIAS BIOLÓGICAS (3)
Bicarbonate transportersErythrocytes take up carbon dioxide and release oxygenErythrocytes take up oxygen and release carbon dioxide
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Tecido-específico)
Sangue
78.9 TPM
Rim - Medula
27.8 TPM
Rim - Córtex
26.2 TPM
Baço
4.2 TPM
Cerebelo
1.2 TPM
OUTRAS DOENÇAS (11)
autosomal dominant distal renal tubular acidosissoutheast Asian ovalocytosisrenal tubular acidosis, distal, 4, with hemolytic anemiaobsolete blood group, diego system
HGNC:11027UniProt:P02730

Variantes genéticas (ClinVar)

625 variantes patogênicas registradas no ClinVar.

🧬 SLC4A1: NM_000342.4(SLC4A1):c.1088-1G>A ()
🧬 SLC4A1: NM_000342.4(SLC4A1):c.1179C>A (p.Tyr393Ter) ()
🧬 SLC4A1: NM_000342.4(SLC4A1):c.1828del (p.Val610fs) ()
🧬 SLC4A1: NM_000342.4(SLC4A1):c.2178_2235del (p.Thr727fs) ()
🧬 SLC4A1: NM_000342.4(SLC4A1):c.592C>T (p.Gln198Ter) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 1 variantes classificadas pelo ClinVar.

1
Patogênica (100.0%)
VARIANTES MAIS SIGNIFICATIVAS
EPB41: NM_001376013.1(EPB41):c.1071_1077del (p.Asn358fs) [Pathogenic]

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
·Pré-clínico2
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 2 ensaios
Carregando informações de tratamento...

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

Pesquisa e ensaios clínicos

2 ensaios clínicos encontrados.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
73 papers (10 anos)
#1

Hereditary red cell defects as an underrecognized cause of neonatal jaundice.

Journal of perinatology : official journal of the California Perinatal Association2026 Mar 16

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.

#2

Crossed Erythrocytes Agglutination Pattern Observed in a Patient With Hereditary Elliptocytosis.

International journal of laboratory hematology2026 Apr
#3

Frameshift Mutation in the EPB41 Gene with Hereditary Elliptocytosis.

Indian journal of hematology &amp; blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion2025 Jul
#4

Parvovirus B19-induced autoimmune hemolytic anemia in hereditary elliptocytosis.

Blood2025 Jan 02
#5

A Male Child With Combined Glucose-6-Phosphate Dehydrogenase Deficiency and Hereditary Elliptocytosis: The First Case Reported From Saudi Arabia.

Cureus2025 Nov

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

Ver todas no PubMed

📚 EuropePMC248 artigos no totalmostrando 80

2026

Hereditary red cell defects as an underrecognized cause of neonatal jaundice.

Journal of perinatology : official journal of the California Perinatal Association
2026

Crossed Erythrocytes Agglutination Pattern Observed in a Patient With Hereditary Elliptocytosis.

International journal of laboratory hematology
2025

A Male Child With Combined Glucose-6-Phosphate Dehydrogenase Deficiency and Hereditary Elliptocytosis: The First Case Reported From Saudi Arabia.

Cureus
2025

Hereditary elliptocytosis in a child with an autosomal recessive SPTA1 mutation: a case report from Saudi Arabia.

Journal of medicine and life
2025

Frameshift Mutation in the EPB41 Gene with Hereditary Elliptocytosis.

Indian journal of hematology &amp; blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion
2025

Hereditary Elliptocytosis Resulting From Heterozygosity for β Spectrin Tandil.

American journal of hematology
2025

Hereditary Pyropoikilocytosis as a Modifier of Sickle Cell Disease Severity.

Journal of pediatric hematology/oncology
2025

Unraveling biochemical differences in the membrane of functional RBCs and elliptocytes using vortex beam-based micro-Raman spectroscopy.

Spectrochimica acta. Part A, Molecular and biomolecular spectroscopy
2025

Parvovirus B19-induced autoimmune hemolytic anemia in hereditary elliptocytosis.

Blood
2024

A rare case report of hemolysis in a newborn: hereditary elliptocytosis.

Frontiers in pediatrics
2024

Trans-acting genetic modifiers of clinical severity in heterozygous β-Thalassemia trait.

Annals of hematology
2024

[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 Sinicae
2024

In vitro cytotoxicity of magnetic-fluorescent bioactive glasses on SaOS-2, MC3T3-E1, BJ fibroblast cells, their hemolytic activity, and sorafenib release behavior.

Biomaterials advances
2024

Effects 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 sciences
2024

Exosome microRNA-22 inhibiting proliferation, migration and invasion through regulating Twist1/CADM1 axis in osteosarcoma.

Scientific reports
2023

Case report: Whole-exome sequencing for a hereditary elliptocytosis case with an unexpectedly low HbA1c.

Frontiers in medicine
2024

Molecular characteristics of hereditary red blood cell membrane disorders in Thailand: a multi-center registry.

Annals of hematology
2023

Molecular insights into hereditary elliptocytosis and pyropoikilocytosis: NGS uncovers multiple potential candidate genes.

Annals of hematology
2023

Acquired elliptocytosis in chronic myeloid neoplasms: An enigmatic relationship to acquired red cell membrane protein and genetic abnormalities.

Blood cells, molecules &amp; diseases
2023

[Clinical and gene mutation characteristics of patients with hereditary ellipsocytosis: nine cases report and literature review].

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi
2023

EDTA-dependent leucoagglutination in a child with hereditary elliptocytosis and Mycoplasma pneumoniae infection.

Pediatric blood &amp; cancer
2023

Association between ovalocytosis and Plasmodium infection: a systematic review and meta-analysis.

Scientific reports
2023

Hereditary elliptocytosis: A novel mutation in the SPTA1 gene and diagnosis after a stroke in paediatric patients. A two-case report.

Pediatric blood &amp; cancer
2023

A 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.

Medicine
2023

Membrane skeleton hyperstability due to a novel alternatively spliced 4.1R can account for ellipsoidal camelid red cells with decreased deformability.

The Journal of biological chemistry
2022

Impaired trafficking and instability of mutant kidney anion exchanger 1 proteins associated with autosomal recessive distal renal tubular acidosis.

BMC medical genomics
2022

Band 3-mediated Plasmodium vivax invasion is associated with transcriptional variation in PvTRAg genes.

Frontiers in cellular and infection microbiology
2022

Clinical features and genetic variations of severe neonatal hyperbilirubinemia: Five case reports.

World journal of clinical cases
2022

Unravelling the genetic and phenotypic heterogeneity of SPTA1 gene variants in Hereditary Elliptocytosis and Hereditary Pyropoikilocytosis patients using next-generation sequencing.

Gene
2022

Red cell ektacytometry in two patients with chronic hemolytic anemia and three new α-spectrin variants.

Annals of hematology
2022

Persistent neonatal jaundice resulting from hereditary pyropoikilocytosis.

American journal of hematology
2021

Familial 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 &amp; cancer
2021

Clinical and molecular genetic analysis of a Chinese family with hereditary elliptocytosis caused by a novel mutation in the EPB41 gene.

Journal of clinical laboratory analysis
2021

Acute lymphoblastic leukaemia in a child with hereditary elliptocytosis.

International journal of laboratory hematology
2020

A novel EPB41 p.Trp704* mutation in a Korean patient with hereditary elliptocytosis: a case report.

Hematology (Amsterdam, Netherlands)
2020

Aberrant Membrane Composition and Biophysical Properties Impair Erythrocyte Morphology and Functionality in Elliptocytosis.

Biomolecules
2020

Clinical 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 physiology
2020

Dizygotic twins with prolonged jaundice and microcytic, hypochromic, hemolytic anemia with pyropoikilocytosis.

Blood cells, molecules &amp; diseases
2020

The spectrin-based membrane skeleton is asymmetric and remodels during neural development in C. elegans.

Journal of cell science
2020

Differential diagnosis of hereditary hemolytic anemias in a single multiscreening test by TGA/chemometrics.

Chemical communications (Cambridge, England)
2020

Development of a novel test for the identification of hereditary erythrocyte membrane defects by TGA/Chemometrics.

The Analyst
2021

A 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
2020

[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 edition
2020

Applications of imaging flow cytometry in the diagnostic assessment of red cell membrane disorders.

Cytometry. Part B, Clinical cytometry
2019

Advances in understanding the pathogenesis of red cell membrane disorders.

British journal of haematology
2019

Spectrin-based membrane skeleton supports ciliogenesis.

PLoS biology
2020

Newborn hereditary elliptocytosis confirmed by familial genetic testing.

International journal of laboratory hematology
2019

Hereditary spherocytosis is associated with decreased pyruvate kinase activity due to impaired structural integrity of the red blood cell membrane.

British journal of haematology
2019

Hereditary elliptocytosis with variable expression and incomplete penetrance in a Chinese family.

British journal of haematology
2019

A novel mutation in SPTA1 identified by whole exome sequencing in a Chinese family for hereditary elliptocytosis presenting with hyperbilirubinemia: A case report.

Medicine
2019

Hereditary elliptocytosis of donor red blood cell unit detected during Coombs crossmatch.

Transfusion
2018

Inherited hemolytic anemia: a possessive beginner's guide.

Hematology. American Society of Hematology. Education Program
2019

Hereditary elliptocytosis-associated alpha-spectrin mutation p.L155dup as a modifier of sickle cell disease severity.

Pediatric blood &amp; cancer
2018

Hereditary Elliptocytosis: A Rare Red Cell Membrane Disorder.

Indian journal of hematology &amp; blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion
2018

Whole-exome sequencing for the genetic diagnosis of congenital red blood cell membrane disorders in Taiwan.

Clinica chimica acta; international journal of clinical chemistry
2018

[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 genetics
2018

Whole-exome sequencing enables correct diagnosis and surgical management of rare inherited childhood anemia.

Cold Spring Harbor molecular case studies
2018

Mechanics 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 America
2018

Use 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 physiology
2018

Hereditary elliptocytosis: Variable clinical severity caused by 3 variants in the α-spectrin gene.

International journal of laboratory hematology
2018

Novel compound heterozygous SPTA1 mutations in a patient with hereditary elliptocytosis.

Molecular medicine reports
2018

Osmotic gradient ektacytometry: A valuable screening test for hereditary spherocytosis and other red blood cell membrane disorders.

International journal of laboratory hematology
2017

Clinico-Haematological Profile of Hereditary Haemolytic Anaemias in a Tertiary Health Care Hospital in South India.

Journal of clinical and diagnostic research : JCDR
2018

The frequency of occurrence of fish-shaped red blood cells in different haematologic disorders.

Clinical chemistry and laboratory medicine
2017

Novel mutations in patients with hereditary red blood cell membrane disorders using next-generation sequencing.

Gene
2017

Red cell membrane disorders.

International journal of laboratory hematology
2017

Coinheritance of Hereditary Elliptocytosis and Deletional Hemoglobin H Disease.

Journal of pediatric hematology/oncology
2016

Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis.

Blood cells, molecules &amp; diseases
2016

Exome sequencing results in successful diagnosis and treatment of a severe congenital anemia.

Cold Spring Harbor molecular case studies
2016

Red blood cell-derived microparticles: An overview.

Blood cells, molecules &amp; diseases
2016

Modeling of band-3 protein diffusion in the normal and defective red blood cell membrane.

Soft matter
2016

Mutational characteristics of ANK1 and SPTB genes in hereditary spherocytosis.

Clinical genetics
2015

Analysis of Hereditary Elliptocytosis with Decreased Binding of Eosin-5-maleimide to Red Blood Cells.

BioMed research international
2015

The human Kell blood group binds the erythroid 4.1R protein: new insights into the 4.1R-dependent red cell membrane complex.

British journal of haematology
2016

Hereditary Elliptocytosis with Pyropoikilocytosis.

Turkish journal of haematology : official journal of Turkish Society of Haematology
2015

Vesiculation of healthy and defective red blood cells.

Physical review. E, Statistical, nonlinear, and soft matter physics
2015

[Band 3 deficiency as a cause of hereditary spherocytosis].

[Rinsho ketsueki] The Japanese journal of clinical hematology
2015

[Hereditary red cell membrane disorders in Japan: comparison with other countries].

[Rinsho ketsueki] The Japanese journal of clinical hematology
2015

[Erythrocyte membrane abnormalities - hereditary elliptocytosis].

Georgian medical news
2015

ICSH guidelines for the laboratory diagnosis of nonimmune hereditary red cell membrane disorders.

International journal of laboratory hematology
Ver todos os 248 no EuropePMC

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

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Doenças relacionadas

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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.

  1. 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
  2. Crossed Erythrocytes Agglutination Pattern Observed in a Patient With Hereditary Elliptocytosis.
    International journal of laboratory hematology· 2026· PMID 41467246mais citado
  3. Frameshift Mutation in the EPB41 Gene with Hereditary Elliptocytosis.
    Indian journal of hematology &amp; blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion· 2025· PMID 40687448mais citado
  4. Parvovirus B19-induced autoimmune hemolytic anemia in hereditary elliptocytosis.
    Blood· 2025· PMID 39745691mais citado
  5. A Male Child With Combined Glucose-6-Phosphate Dehydrogenase Deficiency and Hereditary Elliptocytosis: The First Case Reported From Saudi Arabia.
    Cureus· 2025· PMID 41458859mais citado
  6. Cooley's Legacy Endures-Elliptocytes in X-Linked Sideroblastic Anemia due to Aminolevulinate Synthase 2 Mutations.
    Pediatr Blood Cancer· 2026· PMID 41925069recente
  7. Hereditary elliptocytosis in a child with an autosomal recessive SPTA1 mutation: a case report from Saudi Arabia.
    J Med Life· 2025· PMID 41020088recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:288(Orphanet)
  2. MONDO:0017319(MONDO)
  3. GARD:6621(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Artigo Wikipedia(Wikipedia)
  7. 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

Eliptocitose hereditária
Compêndio · Raras BR

Eliptocitose hereditária

ORPHA:288 · MONDO:0017319
Prevalência
1-5 / 10 000
Herança
Autosomal dominant, Autosomal recessive
CID-10
D58.1 · Eliptocitose hereditária
CID-11
Início
All ages
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0013902
EuropePMC
Wikidata
Wikipedia
Papers 10a
DiscussaoAtiva

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