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Novel mutation in alpha-spectrin gene in Saudi patients with hereditary spherocytosis.

Nucleosides, nucleotides & nucleic acids - 1 Jan 2024

Alshomar Ahmad, Ahmed Ahmed A, Rasheed Zafar, Alhumaydhi Fahad A, Alsagaby Suliman, Aljohani Abdullah S M, Alkhamiss Abdullah S, Alghsham Ruqaih, Althwab Sami A, Khan Muhammad Ismail, Fernández Nelson, Al Abdulmonem Waleed

Abstract excerpt

Hereditary spherocytosis (HS) is the most common hereditary hemolytic disorder induced by red blood cell (RBC) membrane defect. This study was undertaken to determine mutations in genes associated with RBC membrane defect in patients with HS such as α-spectrin gene (SPTA1), β-spectrin gene (SPTB), ankyrin gene (ANK1), band 3 anion transport gene (SLC4A1) and erythrocyte membrane protein band 4.1 gene (EPB41)....

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Identifiers

PMID: 38319988
DOI: 10.1080/15257770.2024.2310703

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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