Hereditary Spherocytosis

Hereditary spherocytosis is a condition that affects red blood cells. People with this condition typically experience a shortage of red blood cells (anemia), yellowing of the eyes and skin (jaundice), and an enlarged spleen (splenomegaly). Most newborns with hereditary spherocytosis have severe anemia, although it improves after the first year of life. Splenomegaly can occur anytime from early childhood to adulthood. About half of affected individuals develop hard deposits in the gallbladder called gallstones, which typically occur from late childhood to mid-adulthood.

• Publication year

  1960

• Venue

  Definitions

• Publication date

  1960-12-31

• Fields of study

  Not labeled

• Identifiers
  DOI 10.1007/978-3-540-35280-8_1144
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar

• No claims are published for this paper.

• No concepts are published for this paper.

• Multi‐gene panel testing improves diagnosis and management of patients with hereditary anemias

  2018cited by this paper
• Molecular Genetic Mechanisms of Hereditary Spherocytosis: Current Perspectives

  2018cited by this paper
• Old and new insights into the diagnosis of hereditary spherocytosis.

  2018cited by this paper
• Hereditary Spherocytosis - Diagnosis, Surgical Treatment and Outcomes. A Literature Review.

  2017cited by this paper
• Guidelines on transfusion for fetuses, neonates and older children

  2016cited by this paper
• Laparoscopic splenectomy for hereditary spherocytosis—preliminary report

  2016cited by this paper
• ICSH guidelines for the laboratory diagnosis of nonimmune hereditary red cell membrane disorders

  2015cited by this paper
• Oscar (Oskar) Minkowski: discovery of the pancreatic origin of diabetes.

  2015cited by this paper
• Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders.

  2013cited by this paper
• Guidelines for the diagnosis and management of hereditary spherocytosis – 2011 update

  2012cited by this paper
• Jean-Martin Charcot's house officers at La Salpêtrière Hospital.

  2011cited by this paper
• Hereditary Spherocytosis in Neonates With Hyperbilirubinemia

  2010cited by this paper
• Hereditary spherocytosis and partial splenectomy in children: review of surgical technique and the role of imaging

  2010cited by this paper
• Clinical and hematologic features of 300 patients affected by hereditary spherocytosis grouped according to the type of the membrane protein defect

  2008cited by this paper
• Genotype/phenotype correlation in hereditary spherocytosis

  2008cited by this paper
• Infantile pyknocytosis: a cause of haemolytic anaemia of the newborn

  2006cited by this paper
• INCIDENCE OF HEREDITARY SPHEROCYTOSIS IN A POPULATION OF JAUNDICED NEONATES

  2006cited by this paper
• Hereditary spherocytosis--defects in proteins that connect the membrane skeleton to the lipid bilayer.

  2004cited by this paper
• Congenital dyserythropoietic anemia type II: epidemiology, clinical appearance, and prognosis based on long-term observation.

  2003cited by this paper
• The spherocytic Haemolytic Anaemias

  2001cited by this paper
• Flow-cytometric analysis of erythrocytes and reticulocytes in congenital dyserythropoietic anaemia type II (CDA II): value in differential diagnosis with hereditary spherocytosis.

  2001cited by this paper
• Natural history of hereditary spherocytosis during the first year of life.

  2000cited by this paper
• MR findings in hereditary spherocytosis.

  1995cited by this paper
• Red cell membrane disorders.

  1994cited by this paper
• Immunisation against infectious disease.

  1988cited by this paper
• Hereditary spherocytosis.

  1957cited by this paper

• Genetic Analysis of 23 SNVs of Nine Genes Involved in RBC Membranopathies with the Hematological Parameters of Mexican Patients

  2026cites this paper
• Hyperbilirubinemia in Gilbert syndrome and hepatitis B infection: Two confusing clinical cases accompanied by hereditary spherocytosis

  2026cites this paper
• Decoding hereditary spherocytosis: Unveiling the genes as a potential causative agent

  2026cites this paper
• A case report of lymphoplasmacytic lymphoma with spherocytosis

  2026cites this paper
• Proteostasis and metabolic dysfunction characterize a subset of storage-induced senescent erythrocytes targeted for posttransfusion clearance

  2025cites this paper
• An Epidemic of Parvovirus B19-Induced Aplastic Crises in Pediatric Patients with Hereditary Spherocytosis Following the COVID-19 Pandemic: A Single-Center Retrospective Study

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• Understanding the genetic architecture and phenotypic landscape of SPTB gene variants causing hereditary spherocytosis in an Indian cohort

  2025influential citation
• Hereditary spherocytosis in a neonate during cardiac surgery

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• Multigene Panel Testing Reveals Novel Variants in Hereditary Spherocytosis Patients in Türkiye

  2025influential citation
• Nonsense Variant in the β-Spectrin Gene Causing Hereditary Spherocytosis Identified by Whole-Exome Sequencing in a Child

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• Pooled CRISPR screens identify genes and non-coding genomic regions that regulate red blood cell density

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• Novel SPTB Variations Cause Hereditary Spherocytosis With Cholangiolithiasis and Severe Intrahepatic Cholestasis

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• Exchange Transfusion via Peripheral Access for Neonate With Hyperbilirubinemia and Hereditary Spherocytosis in the NICU: A Case Report.

  2025cites this paper
• Pediatric splenectomy for hematologic disorders: two-decade experience and prophylactic cholecystectomy outcomes

  2025cites this paper
• Cerebrovascular involvement in hereditary spherocytosis: observational cohort and case-control MRI study

  2025cites this paper
• Coexistence of Hereditary Spherocytosis, Beta-Thalassemia Trait and Gilbert Syndrome in a Newborn: A Rare Genetic Profile

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• Cognitive impairment in hereditary spherocytosis

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• Biliary obstruction in pediatric hereditary spherocytosis: a clinical review of 16 cases

  2025cites this paper
• The effect on canine erythrocyte osmotic fragility under different temperature variations and storage times

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• Red Blood Cell Disorders in Newborns: Bridging Traditional and Modern Diagnostics

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• From gene to clinic: A single-center exploration of genotype-phenotype correlation in pediatric hereditary spherocytosis

  2025influential citation
• Neonatal Hemolytic Jaundice: Causes, Diagnostic Approach, and Management

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• A case report of hereditary spherocytosis complicated by massive splenomegaly and cholelithiasis

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• Hämatologie in der pädiatrischen Praxis

  2024cites this paper
• Pre-splenectomy permanent tooth extraction in a child with hereditary spherocytosis: a case report and guidelines care.

  2024cites this paper
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  2024cites this paper
• A Rare Case of Iron Overload in Hereditary Spherocytosis: A Case Report

  2024cites this paper
• Clinical profile of neonatal jaundice patients admitted in a tertiary care hospital in Khulna, Bangladesh

  2024cites this paper
• Clinical and genetic diagnosis of two Turkish patients with hereditary spherocytosis

  2024cites this paper
• Hemolysis during open heart surgery in patients with hereditary spherocytosis — systematic review of the literature and case study

  2024cites this paper
• Hereditary Spherocytosis with Mitochondrial Retention, Increased Oxidative Stress, and Alterations to Bioactive Membrane Lipids

  2024cites this paper
• A single‐center cohort study of patients with hereditary spherocytosis in Central Europe reveals a high frequency of novel disease‐causing genotypes

  2024cites this paper
• Female with Glucose-6-Phosphate Dehydrogenase Deficiency Combined with Hereditary Spherocytosis

  2024cites this paper
• Current Status of Molecular Diagnosis of Hereditary Hemolytic Anemia in Korea

  2024cites this paper
• Clinical Exome Sequencing Reveals Novel Mutations in SPTB Gene Associated with Hereditary Spherocytosis in Patients with Suspected Congenital Hemolytic Anemia

  2024influential citation
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  2024cites this paper
• Effects of C479W Mutation on the Structure and Function of Band 3 Protein

  2024cites this paper
• Designing 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

  2024cites this paper
• A Case of Adult Hereditary Spherocytosis Concomitant with Gilbert Syndrome Caused by Mutations in SPTB and UGT1A1

  2024cites this paper
• Intragenic deletions in SPTB are associated with hereditary spherocytosis: Series of 12 cases

  2024cites this paper
• Complications of delayed diagnosis and challenges: successfully managed SPTB gene variant hereditary spherocytosis with hepatocellular jaundice—a case report

  2024influential citation
• Interrelation of Blood Microrheological Parameters Measured by Optical Methods and Whole Blood Viscosity in Patients Suffering from Blood Disorders: a Pilot Study

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• Targeted next-generation sequencing identifies novel deleterious variants in ANK1 gene causing severe hereditary spherocytosis in Indian patients: expanding the molecular and clinical spectrum

  2023cites this paper
• One‐step amplification refractory mutation system‐PCR/high‐resolution melting curve assay for carrier detection of red blood cell membranopathy caused by common SPTB mutations

  2023cites this paper
• Spherocytes flow behaviours in microrestriction, compared by normal red blood cells of different heat treatment levels

  2023cites this paper
• Marginated aberrant red blood cells induce pathologic vascular stress fluctuations in a computational model of hematologic disorders

  2023cites this paper
• A young man with acute abdomen and anaemia.

  2023cites this paper
• Spherocytosis in Newborn Secondary to Novel Heterozygous Mutation in SPTB Gene: Case Report

  2023cites this paper
• Molecular diagnosis of hereditary hemolytic anemias: Recent updates

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• Harnessing large language models (LLMs) for candidate gene prioritization and selection

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• A de novo ANK1 mutation in a childhood hereditary spherocytosis: a case report

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• Hereditary Spherocytosis in a Neonate with a New Frameshift Deletion- A Case Report

  2023cites this paper
• Genotype-degree of hemolysis correlation in hereditary spherocytosis

  2023cites this paper
• Anemia and Associated Risk Factors in Pediatric Patients

  2023cites this paper
• Kindlin-3 deficiency leads to impaired erythropoiesis and erythrocyte cytoskeleton

  2023cites this paper
• Splenectomy improves erythrocyte functionality in spherocytosis based on septin abundance, but not maturation defects

  2023cites this paper
• Marginated aberrant red blood cells induce pathologic vascular stress fluctuations in a computational model of hematologic disorders

  2023cites this paper
• Severe autoimmune hemolytic anemia complicating hereditary spherocytosis treated successfully with glucocorticoids and cyclosporine: a case report

  2023cites this paper
• Mitapivat reprograms the RBC metabolome and improves anemia in a mouse model of hereditary spherocytosis

  2023cites this paper
• Identification of a de novo ANK1 Variant in a Patient with Hereditary Spherocytosis on Multi-gene Panel Testing

  2022cites this paper
• A Case Report on Hereditary Spherocytosis in a 22-Year-Old Female

  2022influential citation
• A novel variant of SLC4A1 for hereditary spherocytosis in a Chinese family: a case report and systematic review

  2022cites this paper
• Inherited hemolytic anemias in children

  2022influential citation
• A 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

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• Identification of a novel ANK1 mutation in a Chinese family with hereditary spherocytosis: A case report

  2022cites this paper
• Clinical and genetic diagnosis of thirteen Japanese patients with hereditary spherocytosis

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• Spherocytosis-Related L1340P Mutation in Ankyrin Affects Its Interactions with Spectrin

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• Identification of Novel Mutations in Children with Hereditary Spherocytosis by Targeted Exome Sequencing: A Single Center Experience

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• Literature review on genotype–phenotype correlation in patients with hereditary spherocytosis

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• Allogenic haematopoeitic stem cell transplant as cure for severe transfusion‐dependent non‐dominant hereditary spherocytosis due to homozygous SPTA1 mutation

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• PLMI_A_366451 15..23

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• Whole exome sequencing identifies a novel

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• Role of Toll‐like receptor 4 in intravascular hemolysis‐mediated injury

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• Novel SPTB frameshift mutation in a Chinese neonatal case of hereditary spherocytosis type 2: A case report

  2022cites this paper
• Blood Cell-Derived Microvesicles in Hematological Diseases and beyond

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• Hereditary spherocytosis before and after splenectomy and risk of hospitalization for infection

  2022cites this paper
• Acquired spherocytosis in the setting of myelodysplasia

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• A Child With Hereditary Spherocytosis Associated With Von Willebrand’s Disease: A Case Report From Saudi Arabia

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• 遗传性球形红细胞增多症骨髓红系造血代偿特征

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• A novel SLC4A1 mutation in a child with hereditary spherocytosis and distal renal tubular acidosis

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• Screening for hereditary spherocytosis in daily practice: what is the best algorithm using erythrocyte and reticulocyte parameters?

  2022cites this paper
• Splenic infarction after Epstein–Barr virus infection in a patient with hereditary spherocytosis: a case report and literature review

  2022cites this paper
• Architecture of the human erythrocyte ankyrin-1 complex

  2022cites this paper
• Reticulocyte Maturation

  2022cites this paper
• Whole exome sequencing identifies a novel SPTB frameshift mutation causing hereditary spherocytosis in the Chinese population

  2022cites this paper
• Concomitant Hereditary Spherocytosis and Pyruvate Kinase Deficiency in a Spanish Family with Chronic Hemolytic Anemia: Contribution of Laser Ektacytometry to Clinical Diagnosis

  2022cites this paper
• Robotic surgery in a 12-year-old girl to achieve Cholecystectomy and total Splenectomy indicated for complications of hereditary spherocytosis: Case report

  2022cites this paper
• Targeted next-generation sequencing identifies a novel nonsense mutation in ANK1 for hereditary spherocytosis: A case report

  2022cites this paper
• Identification of variants in 94 Chinese patients with hereditary spherocytosis by next‐generation sequencing

  2022cites this paper
• Effects of SPTA1 Gene Variants on the Hematological Phenotype of Mexican Patients with Hereditary Spherocytosis

  2022influential citation
• Evaluation of the state of the pro-oxidant/antioxidant system in children with hereditary spherocytosis

  2021cites this paper
• Trends in biomedical analysis of red blood cells – Raman spectroscopy against other spectroscopic, microscopic and classical techniques

  2021cites this paper
• Vasculo‐toxic and pro‐inflammatory action of unbound haemoglobin, haem and iron in transfusion‐dependent patients with haemolytic anaemias

  2021cites this paper
• Role of Surgical Intervention in Hereditary Spherocytosis with Haemolytic Anaemia, Splenomegaly and Jaundice

  2021cites this paper
• Valorization of Erythrocyte Indices in the Neonatal Period - A Pilot Study

  2021cites this paper
• Facilitating EMA binding test performance using fluorescent beads combined with next‐generation sequencing

  2021cites this paper
• Identification of a De Novoc.1000delA ANK1 mutation associated to hereditary spherocytosis in a neonate with Coombs-negative hemolytic jaundice-case reports and review of the literature

  2021cites this paper
• Acute Hemolysis and Heme Suppress Anti-CD40 Antibody-Induced Necro-Inflammatory Liver Disease

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• The Interplay between Drivers of Erythropoiesis and Iron Homeostasis in Rare Hereditary Anemias: Tipping the Balance

  2021influential citation