ArticleHaematologica2012
Diagnostic power of laboratory tests for hereditary spherocytosis: a comparison study in 150 patients grouped according to molecular and clinical characteristics.
Article in Haematologica, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 63 papers.
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63 citing papers in PubMed, 178 citations in OpenAlex.
- Targeted next-generation sequencing identified novel mutations associated with hereditary anemias in Brazil.Annals of hematology · 2020Trial
- Red blood cell metabolome maps disease burden, mutation class, and splenectomy status in hereditary spherocytosis.Blood red cells & iron · 2026Article
- Differential Diagnosis of Anemia Using the Erythrocyte Filterability Method.International journal of molecular sciences · 2026Article
- Decoding the Ektacytometric Landscape of Hereditary Spherocytosis: Insights from 204 Cases.Diagnostics (Basel, Switzerland) · 2026Article
- In-depth analysis of osmotic gradient ektacytometry parameters across different genotypes in hereditary spherocytosis.British journal of haematology · 2026Article
- A novel heterozygous mutation in ANK1 solves a mystery of a patient with hyperbilirubinemia and splenomegaly.Pakistan journal of medical sciences · 2026Article
- Clinical Characteristics and Gene Mutations of Hereditary Spherocytosis in 59 Chinese Children.Molecular genetics & genomic medicine · 2026Article
- Iron overload in hereditary spherocytosis: Are genetic factors the cause?British journal of haematology · 2026Article
- Not-So-Rare Defects of RBC Lipidic Composition: Four New Cases of Flippase Deficiency Due toInternational journal of molecular sciences · 2025Article
- An overview of hereditary spherocytosis and the curative effects of splenectomy.Frontiers in physiology · 2025Review
- Complex heterozygous mutations in hereditary spherocytosis: A case report.World journal of clinical cases · 2024Article
- Hereditary Spherocytosis: Can Next-Generation Sequencing of the Five Most Frequently Affected Genes Replace Time-Consuming Functional Investigations?International journal of molecular sciences · 2023Article
- Utility 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 Transfusion · 2023Article
- Genetic mutation analysis of hereditary spherocytosis in Guangxi Zhuang Autonomous Region.Journal of hematopathology · 2023Article
- Hematological 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 · 2023Article
- Integrative preimplantation genetic testing analysis for a Chinese family with hereditary spherocytosis caused by a novel splicing variant ofFrontiers in genetics · 2023Article
- A rare mutation (p.F149del) of the NT5C3A gene is associated with pyrimidine 5'-nucleotidase deficiency.Cellular & molecular biology letters · 2022Article
- Novel SPTB frameshift mutation in a Chinese neonatal case of hereditary spherocytosis type 2: A case report.Experimental and therapeutic medicine · 2022Article
- Korean clinical practice guidelines for the diagnosis of hereditary hemolytic anemia.Blood research · 2022Review
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Abstract
backgroundThe laboratory diagnosis of hereditary spherocytosis commonly relies on NaCl-based or glycerol-based red cell osmotic fragility tests; more recently, an assay directly targeting the hereditary spherocytosis molecular defect (eosin-5'-maleimide-binding test) has been proposed. None of the available tests identifies all cases of hereditary spherocytosis. DESIGN AND
methodsWe compared the performances of the eosin-5'-maleimide-binding test, NaCl-osmotic fragility studies on fresh and incubated blood, the glycerol lysis test, the acidified glycerol lysis test, and the Pink test on a series of 150 patients with hereditary spherocytosis grouped according to clinical phenotype and the defective protein, with the final aim of finding the combination of tests associated with the highest diagnostic power, even in the mildest cases of hereditary spherocytosis.
resultsThe eosin-5'-maleimide-binding test had a sensitivity of 93% and a specificity of 98% for detecting hereditary spherocytosis: the sensitivity was independent of the type and amount of molecular defect and of the clinical phenotype. The acidified glycerol lysis test and Pink test showed comparable sensitivity (95% and 91%). The sensitivity of NaCl osmotic fragility tests, commonly considered the gold standard for the diagnosis of hereditary spherocytosis, was 68% on fresh blood and 81% on incubated blood, and further decreased in compensated cases (53% and 64%, respectively). The combination of the eosin-5'-maleimide-binding test and acidified glycerol lysis test enabled all patients with hereditary spherocytosis to be identified. The eosin-5'-maleimide-binding test showed the greatest disease specificity.
conclusionsEach type of test fails to diagnose some cases of hereditary spherocytosis. The association of an eosin-5'-maleimide-binding test and an acidified glycerol lysis test enabled identification of all patients with hereditary spherocytosis in this series and, therefore, represents a currently effective diagnostic strategy for hereditary spherocytosis including mild/compensated cases.
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