A esferocitose hereditária é uma anemia hemolítica congênita com amplo espectro clínico (desde portadores assintomáticos até hemólise grave) caracterizada por anemia, icterícia variável, esplenomegalia e colelitíase.
Introdução
O que você precisa saber de cara
A esferocitose hereditária é uma anemia hemolítica congênita com amplo espectro clínico (desde portadores assintomáticos até hemólise grave) caracterizada por anemia, icterícia variável, esplenomegalia e colelitíase.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 17 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 31 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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.
Component of the ankyrin-1 complex, a multiprotein complex involved in the stability and shape of the erythrocyte membrane
Cell membraneCytoplasm, cytoskeleton
Spherocytosis 5
Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. Absence of band 4.2 associated with spur or target erythrocytes has also been reported.
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.
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.
Component of the ankyrin-1 complex, a multiprotein complex involved in the stability and shape of the erythrocyte membrane (PubMed:35835865). Attaches integral membrane proteins to cytoskeletal elements; binds to the erythrocyte membrane protein band 4.2, to Na-K ATPase, to the lymphocyte membrane protein GP85, and to the cytoskeletal proteins fodrin, tubulin, vimentin and desmin. Erythrocyte ankyrins also link spectrin (beta chain) to the cytoplasmic domain of the erythrocytes anion exchange pr
Cytoplasm, cytoskeletonMembraneCytoplasm, myofibril, sarcomere, M lineSarcoplasmic reticulum
Spherocytosis 1
A form of spherocytosis, a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. SPH1 is characterized by severe hemolytic anemia. Inheritance can be autosomal dominant or autosomal recessive. Patients with homozygous mutations have a more severe disorder.
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.
Variantes genéticas (ClinVar)
1,522 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 1,795 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
11 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 — Esferocitose 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
🟢 Recrutando agora
1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
9 ensaios clínicos encontrados, 1 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 669
Symptomatic Recurrent Splenomegaly Following Partial Splenectomy in Patients With Hereditary Spherocytosis.
Hereditary spherocytosis (HS) is an inherited hematologic disorder characterized by spherical erythrocytes that are prematurely destroyed in the spleen. Total splenectomy (TS) and partial splenectomy (PS) are surgical interventions used to manage HS, but long-term outcomes, including recurrence of splenomegaly and splenomegaly-related symptoms, remain poorly understood. This study aims to evaluate the long-term recurrence of splenomegaly and splenomegaly-related symptoms in children with HS who underwent PS versus TS at a single institution between 2008 and 2020. A retrospective chart review of children with HS who underwent TS or PS was performed. The primary end point was the long-term recurrence of splenomegaly and splenomegaly-related symptoms. Variables collected included age, sex, surgical method (PS vs. TS), postoperative hematologic markers, splenic volume, postoperative complications, length of hospital stay, recurrence of splenomegaly, and need for completion splenectomy. Symptomatic recurrent splenomegaly is defined as splenic volume > 450 mL and the presence of symptoms directly attributable to the spleen and its effects on adjacent organs or hemolysis. Statistical analysis included comparisons of continuous variables using a Kruskal-Wallis test and categorical variables using a Fisher's exact test. Forty-four patients with HS met the inclusion criteria for the study. Of these, 31 (71%) patients underwent laparoscopic PS and 13 (30%) patients underwent laparoscopic TS. TS was associated with significantly less intraoperative blood loss (p = 0.003), shorter hospital stays (p = 0.01), and greater reduction in hemolysis compared to PS, as evidenced by lower postoperative bilirubin levels and reticulocyte counts (both p < 0.001). Eighteen (58%) PS patients experienced recurrent splenomegaly, and six (19%) PS patients experienced splenomegaly-related symptoms leading to completion splenectomy. Among the six patients who required completion splenectomy, intraoperative hemorrhage requiring conversion to open procedure occurred in half. The median time to need completion splenectomy was 10.5 years (range, 3-15 years). TS offers more significant long-term hematologic improvements but comes with the loss of immune function and increased risk of overwhelming post-splenectomy infection (OPSI). PS, while preserving some splenic function and theoretically reducing OPSI risk, carries a higher risk of recurrent symptomatic splenomegaly and may require additional surgeries. These findings highlight the importance of long-term follow-up for HS patients who undergo PS and the need to balance the advantages and risks of both surgical approaches.
[Analysis of the clinical application of next-generation sequencing in the diagnosis of neonatal hereditary spherocytosis].
Objective: To analyze the clinical and genetic characteristics of children with hereditary spherocytosis (HS) confirmed by next-generation sequencing (NGS), and to evaluate the application of NGS in diagnosing neonatal HS. Methods: A case-series study was conducted. A total of 49 HS children confirmed by NGS between June 2016 and June 2025 were enrolled from 5 centers, including the Children's Hospital of Fudan University, Guangzhou Medical University Affiliated Women and Children's Medical Center, the People's Hospital of Xinjiang Uygur Autonomous Region, Quanzhou Women's and Children's Hospital of Fujian Province, and the Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region. Clinical data were collected, including age at admission, sex, family history, age at onset, major clinical symptoms and signs, laboratory findings, and genetic test results. Children were grouped by age at onset to compare clinical characteristics, diagnostic process, and treatments. The distribution of pathogenic genes and variant types was described, and grouped according to the identified pathogenic genes and variant types, genotype-phenotype associations across genes and variant types were explored. Intergroup comparisons were performed using the Mann-Whitney U test, the Kruskal-Wallis rank-sum test, the χ² test, or Fisher's exact test. Results: Among the 49 HS children, 26 were male and 23 were female; the age when diagnosed was 3 years (28 days, 10 years). Onset occurred in the neonatal period in 31 children and after the neonatal period in 16 children. All children presented with jaundice of varying severity at onset, and 36 had anemia. Among the 31 children with neonatal-onset HS, 23 underwent NGS at onset and were diagnosed during the neonatal period; of these, 2 were clinically diagnosed with HS before the sequencing results were reported and were subsequently confirmed by sequencing, while 21 were retrospectively diagnosed based on clinical findings after the sequencing results suggested HS; 8 children were not clearly diagnosed in the neonatal period and were confirmed by NGS after the neonatal period, among which 2 were clinically diagnosed first and then confirmed by sequencing, and 6 were retrospectively diagnosed after sequencing results suggested HS. Only 4 of the 31 neonatal-onset children had received a clinical diagnosis before NGS. Twenty-two children carried heterozygous pathogenic variants in the ANK1 gene, and 27 children carried heterozygous pathogenic variants in the SPTB gene; 55% (27/49) were novel variants not previously reported. Compared with the post-neonatal-onset group, the neonatal-onset group had a lower proportion of males, lower hemoglobin levels, and a lower reticulocyte proportion (42%(13/31) vs. 12/16, 76 (67, 105) vs. 108 (88, 114) g/L, 0.06 (0.04, 0.10) vs. 0.09 (0.07, 0.13)), with statistical differences (χ²=4.63, Z=2.27 and 2.08, all P<0.05). The neonatal-onset group also had higher rates of phototherapy and transfusion during the neonatal period (100%(31/31) vs. 1/16, 58%(18/31) vs. 2/16, χ2=42.69, 8.96, both P<0.05). There were no difference in hemoglobin levels or serum total bilirubin levels between the ANK1 gene variant group and the SPTB gene variant group (both P>0.05). In the SPTB gene variant group, the hemoglobin level of children carrying nonsense variants and frameshift variants was lower than that of children carrying splice variants (H=6.08, P=0.048). Conclusions: ANK1 gene and SPTB gene are the main pathogenic genes in children with HS. Neonatal HS is characterized by more severe anemia and is difficult to diagnose clinically. NGS can effectively enable early molecular diagnosis and has important value for etiological diagnosis in neonates with unexplained severe hyperbilirubinemia and hemolytic anemia. 目的： 分析遗传性球形红细胞增多症（HS）患儿的临床与遗传学特征，评估二代测序在新生儿HS诊断中的应用情况。 方法： 病例系列研究。纳入2016年6月至2025年6月在复旦大学附属儿科医院、广州医科大学附属妇女儿童医疗中心、新疆维吾尔自治区人民医院、福建省泉州市妇幼保健院和广西壮族自治区妇幼保健院通过二代测序确诊的49例HS患儿，收集患儿入院年龄、性别、家族史、起病时间、主要临床症状及体征、实验室检查、基因检测结果等临床资料。按起病年龄分组，比较患儿的临床特征、诊断经过及治疗情况，描述致病基因及变异类型分布，并按检出的致病基因及变异类型分组，探讨不同基因及变异类型的基因型-表型关系。组间比较采用Mann-Whitney U检验、Kruskal-Wallis秩和检验、χ2检验或Fisher确切概率法。 结果： 49例HS患儿中男26例、女23例，二代测序确诊年龄3岁（28日龄，10岁），新生儿期起病31例，新生儿期后起病16例。患儿起病时均有不同程度的黄疸，36例存在贫血。新生儿期起病组的31例患儿中23例在起病时即送检二代测序，2例先临床诊断HS后由二代测序验证，21例为测序结果提示后结合临床表现回顾性确诊；8例新生儿期未明确诊断，至新生儿期后送检二代测序确诊，其中2例先临床诊断后由测序验证，6例为测序结果提示后回顾性确诊。22例携带ANK1基因杂合致病变异，27例携带SPTB基因杂合致病变异，55%（27/49）为既往未见报道的新变异。与新生儿期后起病组相比，新生儿期起病组男性占比、血红蛋白水平及网织红细胞比例均低［42%（13/31）比12/16、76（67，105）比108（88，114）g/L、0.06（0.04，0.10）比0.09（0.07，0.13），χ2=4.63，Z=2.27、2.08，均P<0.05］，新生儿期接受光疗及输血治疗的比例均更高［100%（31/31）比1/16、58%（18/31）比2/16，χ2=42.69、8.96，均P<0.05］。ANK1基因变异组和SPTB基因变异组患儿血红蛋白水平、血清总胆红素水平差异均无统计学意义（均P>0.05），SPTB基因变异组中携带无义变异及移码变异患儿的血红蛋白水平低于携带剪接变异患儿（H=6.08，P=0.048）。 结论： ANK1基因和SPTB基因是HS患儿的主要致病基因。新生儿期起病HS贫血程度较重、临床诊断困难，应用二代测序可有效实现早期分子诊断，对不明原因新生儿重度高胆红素血症及溶血性贫血的病因诊断具有重要价值。.
Transient Unexplained Severe Acute Hyperbilirubinaemia and Cholestasis in a Patient With Hereditary Spherocytosis.
Hereditary spherocytosis is an inherited red cell membrane disorder resulting in haemolytic anaemia. Recognised clinical manifestations include anaemia, jaundice, splenomegaly and gallstones. Here we describe the case of a 40-year-old male with hereditary spherocytosis presenting with severe hyperbilirubinaemia. Liver biopsy demonstrated features consistent with acute severe cholestasis. Despite extensive investigations for gallstone disease and other causes of liver pathology, no aetiology was identified. There are very few reports in the literature describing cases of profound unexplained jaundice in hereditary spherocytosis. Hereditary spherocytosis may be associated with idiopathic acute cholestasis. We report that the case was managed conservatively and spontaneously resolved.
Hereditary Spherocytosis: Linking Ion Transport Defects to Osmotic Gradient Ektacytometry Profiles-A Review.
Hereditary spherocytosis (HS) is the most common inherited red blood cell (RBC) membrane disorder and has traditionally been attributed to defects in cytoskeletal proteins such as spectrin, ankyrin, band 3, and protein 4.2. Growing evidence, however, shows that disturbances in ion transport also contribute to HS pathophysiology. This review summarizes current understanding of HS by integrating membrane structural defects with abnormalities in ion homeostasis and highlights the diagnostic value of osmotic gradient ektacytometry (OGE). Beyond membrane instability, HS erythrocytes exhibit increased cation permeability with abnormal Na+ influx and K+ loss, leading to cellular dehydration, elevated mean corpuscular hemoglobin concentration (MCHC), and reduced deformability. Dysregulation of mechanosensitive and Ca2+-activated K+ channels (PIEZO1, KCNN4) may modulate disease expression. OGE-now the reference functional test for RBC deformability-identifies reproducible phenotypes reflecting hydration status, including dehydrated (HS1) and partially hydrated (HS2) HS profiles. When combined with next-generation sequencing (NGS), OGE improves differentiation between HS and overlapping membranopathies such as hereditary xerocytosis or stomatocytosis. In conclusion, HS is a multifactorial disorder resulting from the interplay between cytoskeletal fragility, oxidative stress, and dysregulated ion transport. Integrated diagnostic strategies that combine hematologic indices, OGE, and targeted NGS enhance diagnostic accuracy, support genotype-phenotype interpretation, and guide individualized clinical management. Future efforts should focus on ion-channel modulation and wider adoption of functional assays in precision hematology.
Sacral Brodie's abscess in a patient with hereditary spherocytosis.
Brodie's abscess is a subacute form of osteomyelitis typically seen in the metaphysis of long bones. Its occurrence in the sacrum is extremely rare. We report a case of Brodie's abscess involving the S2 vertebra in a male in his early 30s with hereditary spherocytosis, who presented with chronic low back pain without systemic signs of infection. Imaging revealed a well-defined, sclerotic lesion in S2 suggestive of chronic osteomyelitis. A minimally invasive biopsy and curettage was performed. Intraoperative findings suggested early infection, though cultures were negative. Histopathology showed trabecular bone with marrow spaces containing either haematopoietic cells or fibrous tissue, indicating healing. The patient received targeted antibiotic irrigation and a short oral antibiotic course. At 1-year follow-up, he was asymptomatic with complete radiological resolution. This case of isolated sacral Brodie's abscess highlights the importance of early imaging and clinical suspicion in atypical spinal infections, especially in patients with haematological disorders that may obscure typical signs.
Publicações recentes
Robot-Assisted Laparoscopic Splenectomy In Children: A Case Report with Literature Review.
Abnormal Liver Function with Low Glycated Hemoglobin: a Case of Hereditary Spherocytosis Concealed by Liver Disease Symptoms.
Variability in the Management of Antibiotic Prophylaxis for Patients with Asplenia.
De novo mutations in ANK1 and SPTB cause hereditary spherocytosis: three case reports and literature review.
In-depth analysis of osmotic gradient ektacytometry parameters across different genotypes in hereditary spherocytosis.
📚 EuropePMC1.435 artigos no totalmostrando 197
Beyond iron deficiency: A comprehensive national survey of anaemia etiology in Sri Lankan young adults.
Scientific reportsSymptomatic Recurrent Splenomegaly Following Partial Splenectomy in Patients With Hereditary Spherocytosis.
Pediatric blood & cancer[Analysis of the clinical application of next-generation sequencing in the diagnosis of neonatal hereditary spherocytosis].
Zhonghua er ke za zhi = Chinese journal of pediatricsOptimal Corticosteroid Therapy Based on Liver Biopsy for Severe Immune-Mediated Hepatitis During Pembrolizumab Treatment: A Case Report.
CureusClinical Characteristics and Gene Mutations of Hereditary Spherocytosis in 59 Chinese Children.
Molecular genetics & genomic medicineCuring the 'Incurable': First Successful Hematopoietic Stem Cell Transplantation in Severe Hereditary Spherocytosis with Homozygous SPTA1 Variant and Hepatic Fibrosis.
Turkish journal of haematology : official journal of Turkish Society of HaematologyTransient Unexplained Severe Acute Hyperbilirubinaemia and Cholestasis in a Patient With Hereditary Spherocytosis.
Case reports in hepatologyRed Blood Cells in Normal and Pathological States: Redox Reactions of Hemoglobin.
Molecules (Basel, Switzerland)Case Report: Clinical and genetic analysis of a family with hereditary spherocytosis combined with familial chylomicronemia syndrome.
Frontiers in geneticsDose-dependent effects of diamide and glutaraldehyde on red blood cell deformability, viscosity, and morphology.
Microvascular researchA Triad of Hematologic Diseases in a Military Member Requiring Splenectomy Case Report.
Military medicineHereditary Spherocytosis: Linking Ion Transport Defects to Osmotic Gradient Ektacytometry Profiles-A Review.
International journal of molecular sciencesSacral Brodie's abscess in a patient with hereditary spherocytosis.
BMJ case reportsIs occlusive retinal vascular disease linked to hereditary spherocytosis postsplenectomy? A case series.
Journal of medical case reportsNonsense Variant in the β-Spectrin Gene Causing Hereditary Spherocytosis Identified by Whole-Exome Sequencing in a Child.
HemoglobinParvovirus B19-Induced Aplastic Crisis and Hemophagocytic Lymphohistiocytosis in a Child With Hereditary Spherocytosis.
CureusConfounding Factors in the Diagnosis of Hereditary Spherocytosis and Gallstone Formation in Related Hemolytic Disorders From a Tertiary Care Center in North India.
CureusBroken cells and hidden genes: Detection of SLC4A1 variant of hereditary spherocytosis in a blood donor.
TransfusionWhen a Trait Becomes a Disease: A Rare Hematologic Overlap of Sickle Cell Trait and Hereditary Spherocytosis.
American journal of hematologyPediatric gallstone disease, postoperative outcomes, and endoscopic management: a single centre 5-year experience.
Paediatrics & child healthCase Report: Identification and functional characterization of a novel heterozygous splice-donor (c.647+1G>A) site mutation in the SPTB gene that causes hereditary spherocytosis with hemolytic anemia.
Frontiers in geneticsCerebrovascular involvement in hereditary spherocytosis: observational cohort and case-control MRI study.
Orphanet journal of rare diseasesEstablishing a Reference Interval for Flow Cytometric Analysis of Red Blood Cell Osmotic Fragility in a Healthy Korean Population.
Annals of clinical and laboratory scienceA rare case of autoimmune hemolytic anemia with protein S deficiency with splenic infarct.
Asian journal of transfusion scienceRole of Additional Erythrocyte and Reticulocyte Parameters Offered by Sysmex XN-9000 in the Diagnostic Workup of Hereditary Spherocytosis: A New Screening Algorithm According to Age.
International journal of laboratory hematologyHereditary spherocytosis concomitant with JAK2V617F-positive primary myelofibrosis: a case report.
Frontiers in oncologyAn extramedullary hematopoietic lesion causing acute lumbar stenosis in the setting of sickle cell anemia: a case report and review of the literature.
Journal of spine surgery (Hong Kong)Comparison of flow cytometric osmotic fragility test between kinetic and endpoint assay principle.
Cytometry. Part B, Clinical cytometryCognitive impairment in hereditary spherocytosis.
British journal of haematologyExchange Transfusion via Peripheral Access for Neonate With Hyperbilirubinemia and Hereditary Spherocytosis in the NICU: A Case Report.
Advances in neonatal care : official journal of the National Association of Neonatal NursesA novel ANK1 frameshift mutation associated with neonatal hereditary spherocytosis: a case report.
Frontiers in pediatricsLow Hemoglobin A1c (HbA1c) Revealing Hemolytic Anemia in a Growth Hormone-Treated Child: A Case Report.
CureusCoexistence of Hereditary Spherocytosis, Beta-Thalassemia Trait and Gilbert Syndrome in a Newborn: A Rare Genetic Profile.
Fetal and pediatric pathologyHereditary Spherocytosis: Review of Presentation at Birth.
Children (Basel, Switzerland)[Diagnosis of non-autoimmune hemolysis in the adult].
La Revue de medecine interneLaparoscopic Subtotal Splenectomy in Pediatric Patients With Hematologic Disorders: A Case Series and Operative Technique.
Asian journal of endoscopic surgeryGenotype clinical phenotype analysis of 35 cases of hereditary spherocytosis in children.
Frontiers in pediatricsAn Occult Etiology Behind the Episode of Obstructive Jaundice in a Young Woman.
GastroenterologyClinical course and pregnancy outcomes in women with hereditary spherocytosis: Insights from a case series.
Obstetric medicineChallenging diagnosis of spherocytosis in early infancy.
BMJ case reportsA case report of hereditary spherocytosis complicated by massive splenomegaly and cholelithiasis.
Journal of surgical case reportsPediatric splenectomy for hematologic disorders: two-decade experience and prophylactic cholecystectomy outcomes.
BMC surgeryLong-Term Outcome After Partial Splenectomy Compared to Total Splenectomy in Children With Spherocytosis.
Journal of pediatric surgeryAssociation between hereditary spherocytosis and gallstone disease: Pathophysiology, diagnosis, and management.
World journal of gastrointestinal surgeryHereditary Spherocytosis due to an SPTA1 Nonsense Mutation Coinherited With α spectrinLELY in Trans.
American journal of hematologyQuantitative assessment of red blood cell surface molecules in hereditary spherocytosis.
Journal of clinical pathologyAngioid streaks in hereditary spherocytosis associated with an SPTB gene variant.
Documenta ophthalmologica. Advances in ophthalmologyCombined hereditary spherocytosis and β-thalassaemia trait: A rare co-existence.
The National medical journal of IndiaHereditary spherocytosis in a neonate during cardiac surgery.
PerfusionAn Epidemic of Parvovirus B19-Induced Aplastic Crises in Pediatric Patients with Hereditary Spherocytosis Following the COVID-19 Pandemic: A Single-Center Retrospective Study.
Children (Basel, Switzerland)Novel SPTB Variations Cause Hereditary Spherocytosis With Cholangiolithiasis and Severe Intrahepatic Cholestasis.
Annals of human geneticsNeonatal hereditary spherocytosis: a case report.
Italian journal of pediatricsPost-splenectomy accessory spleen hyperfunction in children with hereditary spherocytosis: a rare case report and literature review.
Frontiers in pediatricsSPTA1-Related Hereditary Spherocytosis: Novel Compound Heterozygous Mutations With Severe Clinical Manifestation.
CureusAdrenal hematopoiesis in a pediatric patient with spherocytosis: A case report and literature review.
Radiology case reportsThree novel heterozygous ANK1 loss-of-function variants cause hereditary spherocytosis in Chinese families.
Annals of hematologyBiliary obstruction in pediatric hereditary spherocytosis: a clinical review of 16 cases.
BMC pediatricsRed Blood Cell Disorders in Newborns: Bridging Traditional and Modern Diagnostics.
Fetal and pediatric pathologyCase Report: Post-splenectomy bulky pelvic splenosis in an adolescent with hereditary spherocytosis.
Frontiers in pediatricsDiagnosis and management of severe SPTA1-associated congenital anaemia in a family cohort affected by two founder variants.
BMJ case reportsTranscatheter edge-to-edge repair for post-surgical recurrent mitral regurgitation in hereditary spherocytosis: a case report.
European heart journal. Case reportsUnderstanding the genetic architecture and phenotypic landscape of SPTB gene variants causing hereditary spherocytosis in an Indian cohort.
Human geneticsPatterns of hemolysis, erythropoiesis, and iron distribution define unique disease trajectories in three mouse models of genetic anemia.
Experimental hematologyFeasibility of Intensive Chemotherapy in Hereditary Spherocytosis.
Hematology reportsSplenic Artery Embolization as a Primary Treatment for Hereditary Spherocytosis: A Case Report.
Cureus[Analysis of a Chinese pedigree with hereditary spherocytosis caused by intron variation of SPTB gene].
Zhonghua er ke za zhi = Chinese journal of pediatricsAn overview of hereditary spherocytosis and the curative effects of splenectomy.
Frontiers in physiologyTwo Variants of the ANK1 Gene Associated with Hereditary Spherocytosis.
BiomedicinesCorrelation of Genetic Mutation With Outcomes in Children With Hereditary Spherocytosis Undergoing Partial Splenectomy: A Multicentre Study.
Journal of pediatric surgeryClinical characteristics of hereditary spherocytosis with red blood cell membrane protein gene variants.
Frontiers in pediatricsIdentification of a novel SPTB gene splicing mutation in hereditary spherocytosis: a case report and diagnostic insights.
Frontiers in geneticsDrug-induced liver injury from Deferasirox in a pediatric patient with hereditary spherocytosis: A case report.
JPGN reportsGenetic screening strategy for children with hereditary spherocytosis in Jiangxi Province of China.
Frontiers in pediatricsExternal oblique intercostal plane block (EOIPB) for cholecystectomy in a child with hereditary spherocytosis.
Minerva anestesiologicaCrosstalk: Biochemical Signatures and Clinical Implications in Rare Hereditary Hemolytic Anemias (Hereditary Spherocytosis).
Current pharmaceutical designThe Prevalence of Peripheral Erythrophagocytosis in Pediatric Immune-Mediated Hemolytic Anemia.
Hematology reportsShape-Dependent Structural Order of Red Blood Cells.
Langmuir : the ACS journal of surfaces and colloidsMultigene Panel Testing Reveals Novel Variants in Hereditary Spherocytosis Patients in Türkiye.
Turkish journal of haematology : official journal of Turkish Society of HaematologyEvaluation of endocrine changes and insulin release in patients with hereditary spherocytosis.
Journal of paediatrics and child health10-Year Risk of Gallstones in Congenital Red Blood Cell Disorder Patients: A Nationwide Cohort Study.
American journal of hematologyGallbladder preserving cholelithotomy in children with hereditary spherocytosis complicated by gallstones: a single-center retrospective study.
Frontiers in pediatricsIron overload in hereditary spherocytosis: Are genetic factors the cause?
British journal of haematologyComplications of delayed diagnosis and challenges: successfully managed SPTB gene variant hereditary spherocytosis with hepatocellular jaundice-a case report.
Journal of medical case reportsPre-splenectomy permanent tooth extraction in a child with hereditary spherocytosis: a case report and guidelines care.
The Journal of clinical pediatric dentistryIdentification and functional analysis of novel SPTB and ANK1 mutations in hereditary spherocytosis patients.
Scientific reportsEmergent Anesthetic Management in a Patient Recently Diagnosed With Stiff Person Syndrome.
CureusThe efficacy of partial versus total splenectomy in the treatment of hereditary spherocytosis in children: a systematic review and meta-analysis.
Pediatric surgery internationalOverview on Hereditary Spherocytosis Diagnosis.
International journal of laboratory hematologyHereditary Spherocytosis: Unravelling the Diagnostic Challenges.
CureusBiomechanics of phagocytosis of red blood cells by macrophages in the human spleen.
Proceedings of the National Academy of Sciences of the United States of AmericaDigenic Inheritance of Hereditary Spherocytosis Type III and X-linked Agammaglobulinemia: Coexistence of Two Distinct Recessive Disorders in a Male Child.
CureusIdentification of novel variants in hereditary spherocytosis patients by whole-exome sequencing.
Clinica chimica acta; international journal of clinical chemistryNaturopathic Management of Hereditary Spherocytosis: A Case Report.
Alternative therapies in health and medicineA Case of Adult Hereditary Spherocytosis Concomitant with Gilbert Syndrome Caused by Mutations in SPTB and UGT1A1.
Journal of inflammation researchA novel variant in the SPTB gene underlying hereditary spherocytosis and a literature review of previous variants.
BMC medical genomicsIntragenic deletions in SPTB are associated with hereditary spherocytosis: Series of 12 cases.
British journal of haematologyA Rare Case of Iron Overload in Hereditary Spherocytosis: A Case Report.
CureusApplications of Flow Cytometry in Diagnosis and Evaluation of Red Blood Cell Disorders.
Clinics in laboratory medicineDesigning a single-arm phase 2 clinical trial of mitapivat for adult patients with erythrocyte membranopathies (SATISFY): a framework for interventional trials in rare anaemias - pilot study protocol.
BMJ openFlow Cytometry as a New Accessible Method to Evaluate Diagnostic Osmotic Changes in Patients with Red Blood Cell Membrane Defects.
BiomedicinesLaparoscopic cholecystectomy for symptomatic cholelithiasis in children and adolescents: analysis of 50 cases from a single institution.
Acta cirurgica brasileiraClinical and genetic characteristics of Chinese pediatric and adult patients with hereditary spherocytosis.
Orphanet journal of rare diseasesComplex heterozygous mutations in hereditary spherocytosis: A case report.
World journal of clinical casesCoexistence of hereditary spherocytosis with SPTB P.Trp1150 gene variant and Gilbert syndrome: A case report and literature review.
Open life sciencesHereditary Spherocytosis with Mitochondrial Retention, Increased Oxidative Stress, and Alterations to Bioactive Membrane Lipids.
Journal of pediatric hematology/oncologyCatalase, Glutathione Peroxidase, and Peroxiredoxin 2 in Erythrocyte Cytosol and Membrane in Hereditary Spherocytosis, Sickle Cell Disease, and β-Thalassemia.
Antioxidants (Basel, Switzerland)The coincidence of beta-thalassemia and hereditary spherocytosis: A case report and literature review.
Clinical case reportsHemolysis during open heart surgery in patients with hereditary spherocytosis - systematic review of the literature and case study.
Perioperative medicine (London, England)Clinical Exome Sequencing Reveals Novel Mutations in SPTB Gene Associated with Hereditary Spherocytosis in Patients with Suspected Congenital Hemolytic Anemia.
HemoglobinMoyamoya syndrome secondary to hereditary spherocytosis: A case report.
Asian journal of surgeryPrecise diagnosis of a hereditary spherocytosis patient with complicated hematological phenotype.
Molecular genetics and genomics : MGGComparative histological analysis of spleens in pediatric patients with hemolytic anemias: Insights into the pathophysiological mechanisms of spleen destruction in sickle cell anemia.
American journal of hematologyCould the 14q23.2 microdeletion or AKAP5 haploinsufficiency be a potential cause of intellectual disability?
Psychiatric geneticsIdentification of a novel ANK1 gene variant c.1504-9G>A and its mechanism of intron retention in hereditary spherocytosis.
Frontiers in geneticsRed blood cell senescence and vascular function in patients with hereditary spherocytosis with and without splenectomy.
British journal of haematologySevere hepatic sinusoidal obstruction syndrome in a patient with Wilms tumor and hereditary spherocytosis.
International cancer conference journalMinimal endoscopic sphincterotomy followed by papillary balloon dilation to relieve choledocholithiasis in a 6-year-old girl with hereditary spherocytosis.
Clinical journal of gastroenterologyTranscript-specific induction of stop codon readthrough using a CRISPR-dCas13 system.
EMBO reportsConsequence of Red Blood Cells Deformability on Heat Sink Effect of Blood in a Three-Dimensional Bifurcated Vessel.
Journal of biomechanical engineeringHereditary spherocytosis in a young female in Eastern Nepal: a case report.
Annals of medicine and surgery (2012)A Case Report of Hemolytic Hyponatremia.
CureusA single-center cohort study of patients with hereditary spherocytosis in Central Europe reveals a high frequency of novel disease-causing genotypes.
HemaSphereReticulocyte Antioxidant Enzymes mRNA Levels versus Reticulocyte Maturity Indices in Hereditary Spherocytosis, β-Thalassemia and Sickle Cell Disease.
International journal of molecular sciencesNovel mutation in alpha-spectrin gene in Saudi patients with hereditary spherocytosis.
Nucleosides, nucleotides & nucleic acidsTemporal trends of splenectomy in pediatric hospitalizations with hereditary spherocytosis from 2000 to 2019: A national survey.
Pediatric blood & cancerThe Correlation Between Clinical Phenotype and Genotype of Hereditary Spherocytosis.
Genetic testing and molecular biomarkersClinical Characteristics and Treatment Outcome of Hereditary Spherocytosis: A Single Center's Experience.
Sisli Etfal Hastanesi tip bulteniPiezo1 Regulation Involves Lipid Domains and the Cytoskeleton and Is Favored by the Stomatocyte-Discocyte-Echinocyte Transformation.
BiomoleculesCoinheritance of hereditary spherocytosis with haemochromatosis: next-generation sequencing reveals.
BMJ case reportsGenetic mutation analysis of hereditary spherocytosis in Guangxi Zhuang Autonomous Region.
Journal of hematopathologyEnhanced Recovery after Surgery Applied to Pediatric Laparoscopic Cholecystectomy for Simple Cholelithiasis: Feasibility and Teaching Insights.
Children (Basel, Switzerland)Case report: Genetic analysis of a novel intronic inversion variant in the SPTB gene associated with hereditary spherocytosis.
Frontiers in geneticsRetracted: Study on Management of Blood Transfusion Therapy in Patients with Hereditary Spherocytosis.
Applied bionics and biomechanicsHereditary Spherocytosis: Can Next-Generation Sequencing of the Five Most Frequently Affected Genes Replace Time-Consuming Functional Investigations?
International journal of molecular sciences[Hemolytic anemia in a two-year-old child: A case of multiple red blood cell abnormalities].
Annales de biologie cliniqueMolecular characteristics of hereditary red blood cell membrane disorders in Thailand: a multi-center registry.
Annals of hematologyProgression of hemolysis in a patient with hereditary spherocytosis after the second dose of COVID-19 mRNA vaccine: Correspondence.
Human vaccines & immunotherapeuticsSimultaneous Robotic-Assisted Splenectomy and Cholecystectomy in Children: Is It Safe and Effective?
Journal of laparoendoscopic & advanced surgical techniques. Part A[Splenic surgery in hematological diseases : Indications and surgical technique].
Chirurgie (Heidelberg, Germany)Porto-spleno-mesenteric venous thrombosis after elective splenectomy: a retrospective cohort study.
Frontiers in immunologyHematological characteristics and hepatobiliary complications of hereditary spherocytosis in a tertiary care pediatric center: optimizing diagnosis and care through local and international networks.
Frontiers in pediatrics[Clinical and genotypic analysis of hereditary spherocytosis combined with cholestasis among pediatric patients].
Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatologyA Rare Case of "Periportal Cuffing" as an Incidental Finding on 18F-FDG PET/CT.
Molecular imaging and radionuclide therapyConcurrent Cholecystectomy Does Not Increase Splenectomy Morbidity in Patients With Hemolytic Anemia: A Pediatric NSQIP Analysis.
Journal of pediatric surgeryIntegrative preimplantation genetic testing analysis for a Chinese family with hereditary spherocytosis caused by a novel splicing variant of SPTB.
Frontiers in geneticsMembrane Protein Detection and Morphological Analysis of Red Blood Cells in Hereditary Spherocytosis by Confocal Laser Scanning Microscopy.
Microscopy and microanalysis : the official journal of Microscopy Society of America, Microbeam Analysis Society, Microscopical Society of CanadaRobotic-Assisted Splenectomy by a Modified Lateral Approach: Technique and Outcomes.
CureusLong-term haematological response and maintained immunological function after laparoscopic subtotal splenectomy in patients with hereditary spherocytosis.
European journal of haematologyMitapivat reprograms the RBC metabolome and improves anemia in a mouse model of hereditary spherocytosis.
JCI insightInfluence of age and sex on osmoscan indies for next-generation osmotic gradient ektacytometry.
Clinica chimica acta; international journal of clinical chemistryA stepwise diagnostic approach for undiagnosed Anemia in children: A model for low-middle income country.
Blood cells, molecules & diseasesSevere autoimmune hemolytic anemia complicating hereditary spherocytosis treated successfully with glucocorticoids and cyclosporine: a case report.
Hematology (Amsterdam, Netherlands)Aplastic crisis due to human parvovirus B19.
IDCasesClinical and genetic diagnosis for 26 paitents with hereditary spherocytosis.
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciencesAccessory Spleen Mimicking an Intrahepatic Neoplasm: A Rare Case Report.
CureusSpherocytosis in Newborn Secondary to Novel Heterozygous Mutation in SPTB Gene: Case Report.
Journal of investigative medicine high impact case reportsUtility of Cryohemolysis Test in the Diagnosis of Hereditary Spherocytosis.
Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood TransfusionGenotype-degree of hemolysis correlation in hereditary spherocytosis.
BMC genomicsA de novo ANK1 mutation in a childhood hereditary spherocytosis: a case report.
BMC pediatricsClinical Presentation of Parvovirus B19 Infection in Adults Living with HIV/AIDS: A Case Series.
VirusesExpression levels of serine proteases, their homologs, and prophenoloxidase in the Eriocheir sinensis with hepatopancreatic necrosis syndrome (HPNS) and their expression regulation by Runt.
Fish & shellfish immunologyLaparoscopic concomitant cholecystectomy and splenectomy for true left-sided gall bladder with hereditary spherocytosis.
Journal of minimal access surgeryGiant lung tumor in hereditary spherocytosis: inflammatory myofibroblastic tumor.
Indian journal of thoracic and cardiovascular surgeryHypercoagulability evaluation in congenital red blood cell disorders using thrombin generation assay.
Thrombosis researchNovel Variant of the SLC4A1 Gene Associated with Hereditary Spherocytosis.
BiomedicinesUse of minigene assays as a useful tool to confirm the pathogenic role of intronic variations of the ANK1 gene: Report of two cases of hereditary spherocytosis.
British journal of haematologyEvaluation of the main regulators of systemic iron homeostasis in pyruvate kinase deficiency.
Scientific reportsClinical manifestations of adult hereditary spherocytosis with novel SPTB gene mutations and hyperjaundice: A case report.
World journal of clinical casesSevere Microcytic Anemia Caused by Complex Hereditary Spherocytosis and X-Linked Sideroblastic Anemia with Mutations in SPTB and ALAS2 Genes.
Journal of clinical medicine[Analysis of the characteristics of SPTB gene variants among 16 children with Hereditary spherocytosis].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsErythrocyte pyruvate kinase activation in red cell disorders.
Current opinion in hematologyFive Years' Experience with Gene Panel Sequencing in Hereditary Hemolytic Anemia Screened by Routine Peripheral Blood Smear Examination.
Diagnostics (Basel, Switzerland)Clinical utility of targeted next-generation sequencing panel in routine diagnosis of hereditary hemolytic anemia: A national reference laboratory experience.
European journal of haematologyClinical manifestations of 17 Chinese children with hereditary spherocytosis caused by novel mutations of the ANK1 gene and phenotypic analysis.
Frontiers in genetics[Genetic Analysis of a Chinese Pedigree with Hereditary Spherocytosis Caused by Copy Number Variation Deletion of SPTB Gene].
Zhongguo shi yan xue ye xue za zhi[Hereditary Spherocytosis and Pregnancy: A Case Report].
Acta medica portuguesaSplenectomy improves erythrocyte functionality in spherocytosis based on septin abundance, but not maturation defects.
Blood advancesAutoimmune lymphoproliferative syndrome identified through reverse phenotyping.
Central-European journal of immunologyA 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.
MedicineFour genetic red cell disorders in one.
BloodA Curious Case of Suspicious Lymphadenopathy in a Hereditary Spherocytosis Patient Reported as Extramedullary Hematopoiesis.
Indian journal of nuclear medicine : IJNM : the official journal of the Society of Nuclear Medicine, IndiaSpherocytosis-Related L1340P Mutation in Ankyrin Affects Its Interactions with Spectrin.
Life (Basel, Switzerland)De novo variations of ANK1 gene caused hereditary spherocytosis in two Chinese children by affecting pre-mRNA splicing.
BMC pediatricsProgression of hemolysis in a patient with hereditary spherocytosis after the second dose of COVID-19 mRNA vaccine.
Human vaccines & immunotherapeuticsTargeted next-generation sequencing identifies novel deleterious variants in ANK1 gene causing severe hereditary spherocytosis in Indian patients: expanding the molecular and clinical spectrum.
Molecular genetics and genomics : MGGTreatment of asymptomatic gallstones in children with hereditary spherocytosis requiring splenectomy.
Journal of pediatric surgeryHereditary spherocytosis associated with Noonan syndrome mimicking a dyserythropoietic anaemia.
Pediatric blood & cancerIdentification of a novel ANK1 mutation in a Chinese family with hereditary spherocytosis: A case report.
Experimental and therapeutic medicineHereditary spherocytosis complicated by intrahepatic cholestasis: two case reports.
Annals of translational medicineLaparoscopic splenectomy with the final splenic pedicle transection for hereditary spherocytosis: A video vignette.
Asian journal of surgeryA novel variant of SLC4A1 for hereditary spherocytosis in a Chinese family: a case report and systematic review.
BMC medical genomicsHypoplastic crisis in hereditary spherocytosis associated with Kawasaki disease.
Pediatrics and neonatologyPlatelets: out of shape and misbehaving.
BloodA 6-Day-Old Male Infant with Severe Hyperbilirubinemia Diagnosed with Hereditary Spherocytosis at a Tertiary Hospital in East Java, Indonesia: A Diagnostic and Management Challenge in a Developing Country.
The American journal of case reportsArtefactual decrease in the fluorescence intensity of hereditary spherocytosis EMA test related to statins.
Blood cells, molecules & diseases[When HbA1c is unreliable : a case report of hereditary spherocytosis].
Revue medicale de LiegeA novel splicing mutation of ANK1 is associated with phenotypic heterogeneity of hereditary spherocytosis in a Chinese family.
Biochimica et biophysica acta. Molecular basis of diseaseAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Esferocitose hereditária.
É de uma associação que acompanha esta doença? Fale com a gente →
Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Esferocitose hereditária
Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.
Tire suas dúvidas
Perguntas, dicas e experiências compartilhadas aqui na página
Participe da discussão
Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.
Fazer loginDoenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
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.
- Symptomatic Recurrent Splenomegaly Following Partial Splenectomy in Patients With Hereditary Spherocytosis.
- [Analysis of the clinical application of next-generation sequencing in the diagnosis of neonatal hereditary spherocytosis].
- Transient Unexplained Severe Acute Hyperbilirubinaemia and Cholestasis in a Patient With Hereditary Spherocytosis.
- Hereditary Spherocytosis: Linking Ion Transport Defects to Osmotic Gradient Ektacytometry Profiles-A Review.
- Sacral Brodie's abscess in a patient with hereditary spherocytosis.
- Robot-Assisted Laparoscopic Splenectomy In Children: A Case Report with Literature Review.
- Abnormal Liver Function with Low Glycated Hemoglobin: a Case of Hereditary Spherocytosis Concealed by Liver Disease Symptoms.
- Variability in the Management of Antibiotic Prophylaxis for Patients with Asplenia.
- De novo mutations in ANK1 and SPTB cause hereditary spherocytosis: three case reports and literature review.
- In-depth analysis of osmotic gradient ektacytometry parameters across different genotypes in hereditary spherocytosis.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:822(Orphanet)
- MONDO:0019350(MONDO)
- GARD:6639(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q541244(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
