Complete molecular spectrum of β-globin gene mutations via direct sequencing identifies seven novel variants in β-thalassemia major.

ABSTRACT:

Background

A common monogenic condition, β-thalassemia, is caused by a variety of mutations in the β-globin (HBB) gene. It is essential to accurately characterize these mutations for genetic counselling, diagnosis, and treatment.

Objective

This study aimed to characterize and provide an updated and complete molecular spectrum of β-globin gene mutations, including both known and novel mutations, estimate their frequencies, and determine their possible deleterious effects.

Methods

A total of 60 major β-thalassemia patients who sought treatment at Jeen Hospital in Duhok from August 2024 to February 2025 were analyzed using direct DNA sequencing of the β-globin gene.

Results

Out of 60 sequence chromatograms, 40 were of excellent quality. Among these, 26 distinct mu

SUBMITTER: Sadoon TA 

PROVIDER: S-EPMC12594352 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature