"Hereditary spherocytosis"

Hereditary spherocytosis Skip to main contentSkip to searchAbout usHelpSubscribeAccess through your institutionLog inBMJ Best PracticeSearchSearchSelect languageHereditary spherocytosis MENULog in or subscribe to access all of BMJ Best PracticeLast reviewed:21 May 2023Last updated:20 Jun 2023SummaryHereditary spherocytosis is an inherited abnormality of the red blood cell, caused by defects reticulocyte count.May be newly diagnosed in children who present with severe anaemia due to parvovirus infection. Patients may also be completely asymptomatic. In these cases, hereditary spherocytosis (HS) may be detected on a blood count/smear done for other reasons.Management depends on the severity of the haemolysis and degree of anaemia, but is generally supportive for most patients.Splenectomy

Correlation of Genetic Mutation With Outcomes in Children With Hereditary Spherocytosis Undergoing Partial Splenectomy: A Multicentre Study. Hereditary Spherocytosis (HS) is a common genetic hematological disorder causing a life-long hemolytic anemia, with sequela of hemolysis. Children with severe HS commonly undergo partial or total splenectomy (PS, TS); PS confers the theoretical advantage

[Analysis of a Chinese pedigree with hereditary spherocytosis caused by intron variation of SPTB gene]. To analyze a novel intronic variant in the SPTB gene and explore its effect on SPTB mRNA splicing. Clinical data of a child diagnosed with hereditary spherocytosis (HS) and admitted to the First Affiliated Hospital of Xi'an Jiaotong University in February 2022 were analyzed retrospectively

Hereditary spherocytosis Hereditary spherocytosis - Symptoms, diagnosis and treatment | BMJ Best PracticeSkip to main contentSkip to search * About us * Help * Subscribe * Access through your institution * Log inBMJ Best Practice * Help * Getting started * FAQs * Contact us * Recent updates * Specialties * Calculators * Patient leaflets * Videos * Evidence * Drugs * Recent updates -globulin test (DAT) and an elevated reticulocyte count.May be newly diagnosed in children who present with severe anaemia due to parvovirus infection. Patients may also be completely asymptomatic. In these cases, hereditary spherocytosis (HS) may be detected on a blood count/smear done for other reasons.Management depends on the severity of the haemolysis and degree of anaemia, but is generally

Naturopathic Management of Hereditary Spherocytosis: A Case Report. Hereditary spherocytosis (HS) is a common variant of inherited hemolytic anemia, in which abnormalities of red blood cells (RBC) structural proteins lead to loss of erythrocyte membrane surface area, resulting in spherical, hyperdense, weakly deformable RBCs. It is characterized by the presence of osmotically fragile erythrocytes

Treatment of asymptomatic gallstones in children with hereditary spherocytosis requiring splenectomy. Gallstones are common in hereditary spherocytosis (HS) and other chronic hemolytic diseases, with most affected patients being asymptomatic. Whether and how asymptomatic gallstones should be treated is controversial. We conducted a retrospective cohort study of pediatric patients with HS

Hereditary spherocytosis before and after splenectomy and risk of hospitalization for infection. The infectious burden in hereditary spherocytosis (HS) children before splenectomy has rarely been reported and the risk of severe postsplenectomy infection is controversial. We conducted a retrospective study of pediatric patients with HS to evaluate the risk of infection presplenectomy require splenectomy later in life had a high incidence of hospitalization for infections. In contrast, postsplenectomy risk of hospitalization involving infection or severe infection was low. Patients with hereditary spherocytosis who require splenectomy later in life have a high risk of hospital admission for infections, especially those with severe hereditary spherocytosis. With vaccines

De novo variations of ANK1 gene caused hereditary spherocytosis in two Chinese children by affecting pre-mRNA splicing. Hereditary spherocytosis (HS) is one of the most common hereditary haemolytic disorders. Here, two unrelated families with the probands displaying typical manifestations of HS were enrolled. Our study aimed to characterize the effect of two novel variants in HS patients on gene

A de novo ANK1 mutation in a childhood hereditary spherocytosis: a case report. Due to the heterogeneity of the phenotype of Hereditary spherocytosis (HS) patients, some patients may have rare clinical complications such as biliary obstruction and ultra-high bilirubinemia. A 8-y-old boy presented to the emergency with complaints of anemia for 6 years and worsened abdominal pain and scleral

Mitapivat reprograms red cell metabolome and improves anemia in a mouse model of hereditary spherocytosis. Hereditary spherocytosis (HS) is the most common non-immune hereditary chronic hemolytic anemia after hemoglobinopathies. The genetic defects in membrane function causing HS leads to perturbation of red cell metabolome, with altered glycolysis. In mice genetically lacking protein 4.2 (4.2

Literature review on genotype-phenotype correlation in patients with hereditary spherocytosis. Hereditary spherocytosis (HS) is a prevalent inherited hemolytic disorder primarily reported in Caucasians. Recently, next-generation sequencing (NGS) techniques have shown tremendous potential in the diagnosis of HS. HS commonly originates from variants in ANK1, SPTB, SLC4A1, SPTA1, and EPB42

Splenic infarction after Epstein-Barr virus infection in a patient with hereditary spherocytosis: a case report and literature review. Hereditary spherocytosis (HS) complicated by splenic infarction is very rare, and it is even rarer to develop splenic infarction after infectious mononucleosis (IM) as a result of Epstein-Barr virus (EBV) infection. Therefore, misdiagnosis or missed diagnosis

Laboratory Indices in Patients with Positive and Borderline Flow Cytometry Eosin-5-Maleimide-Screening Test Results for Hereditary Spherocytosis. To evaluate laboratory indices in patients with hereditary spherocytosis, with positive and borderline flow cytometry eosin-5-melamide (EMA)-bound red blood cells screening test. We compared laboratory indices of 151 samples obtained from 139 different characteristic analysis identified mean corpuscular hemoglobin concentration of <32.5 g/dL as a cut-off, between positive/borderline and negative test results with 100% sensitivity. A higher prevalence of clinical markers typical of hereditary spherocytosis was found in patients with borderline or positive compared with negative EMA test samples. Based on laboratory data, borderline EMA-test results may

Identification of variants in 94 Chinese patients with hereditary spherocytosis by next-generation sequencing. Hereditary spherocytosis (HS) is the most common type of hereditary erythrocyte membrane disease and has varied phenotypic features and genetic patterns. We herein performed a retrospective study of 94 patients with HS and aimed to investigate the genetic variations and genotype

[A case of neonatal hereditary spherocytosis characterized by hydrops fetalis]. 1例以宫内胎儿水肿为特征的患儿，新生儿期表现为间接胆红素增高为主的重度高胆红素血症、网织红细胞比例增高、重度贫血、肝脾肿大。基因测序结果显示存在SPTB基因移码变异，为c.5165_c.5166delTT，为新发变异，确诊为遗传性球形红细胞增多症。以非免疫性胎儿水肿为特征的遗传性球形红细胞增多症少见，对于临床高度怀疑而常规辅助检查不支持的新生儿遗传性球形红细胞增多症，基因检测可协助确诊。.

Long-Term Evaluation of the Outcomes of Subtotal Laparoscopic and Robotic Splenectomy in Hereditary Spherocytosis. Hereditary spherocytosis (HS) is a common inherited disease affecting the erythrocyte membrane. Total splenectomy (TS) is effective in reducing hemolysis and decreasing the need of transfusions, but total removal of the spleen represents a potential risk factor for infectious

Genotype-phenotype correlation in children with hereditary spherocytosis. Hereditary spherocytosis (HS) is a common inherited haemolytic anaemia attributed to disturbances in five different red cell membrane proteins. We performed a retrospective study of 166 children with HS and describe the clinical phenotype according to the genotype. In 160/166 (97%) children with HS a disease-causing

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Hereditary spherocytosis is associated with decreased pyruvate kinase activity due to impaired structural integrity of the red blood cell membrane. Hereditary spherocytosis (HS) is characterised by increased osmotic fragility and enhanced membrane loss of red blood cells (RBC) due to defective membrane protein complexes. In our diagnostic laboratory, we observed that pyruvate kinase (PK

Deciphering molecular heterogeneity of Indian families with hereditary spherocytosis using targeted next-generation sequencing: First South Asian study. Defects in various erythrocyte membrane proteins genes (ankyrin, band-3, β- and α-spectrin and protein 4·2) can cause hereditary spherocytosis (HS). This molecular heterogeneity of HS, together with co-inherited genetic modifiers, results