Ahmad Alshomar, Ahmed A Ahmed, Zafar Rasheed, Fahad A Alhumaydhi, Suliman Alsagaby, Abdullah S M Aljohani, Abdullah S Alkhamiss, Ruqaih Alghsham, Sami A Althwab, Muhammad Ismail Khan, Nelson Fernández, Waleed Al Abdulmonem
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). Blood samples were collected from 23 unrelated patients with HS. Patients were diagnosed according to the guidelines from the British Society for Hematology...
February 6, 2024: Nucleosides, Nucleotides & Nucleic Acids