Revealing silent alpha-thalassemia: characterization of novel HBA1 deletion and missense mutation in Tunisian families.

ABSTRACT: Alpha-thalassemia is a common inherited hemoglobin disorder caused by deletions or point mutations in the HBA1 and/or HBA2 genes, leading to reduced or absent synthesis of alpha-globin chains. Although deletional mutations are predominant, non-deletional mutations can also contribute to the clinical spectrum of the disease, with varying severity. This study aimed to characterize two novel mutations in the HBA1 gene, a 230 bp microdeletion and a missense mutation (NP_000549.1:p.Ala29Pro), identified in two unrelated Tunisian families. Additionally, we assessed the clinical, hematological, molecular, and in silico structural impact of these mutations. Peripheral blood samples were collected from affected individuals and family members. Hematological parameters were measured using automated c

SUBMITTER: Amri Y 

PROVIDER: S-EPMC12283798 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature