Molecular spectrum and carrier frequency of deletional hereditary persistence of fetal hemoglobin and delta-beta thalassemia in Malaysia.

ABSTRACT:

Purpose

Thalassemia is a major public health concern in Southeast Asia, particularly in Malaysia, where a high carrier rate places significant pressure on healthcare systems. Hereditary Persistence of Fetal Hemoglobin (HPFH) and delta-beta (δβ) thalassemia are genetic conditions associated with elevated levels of fetal hemoglobin (Hb F). This study aimed to determine the frequency of common beta (β)-globin gene cluster deletions among Malaysian carriers of HPFH or δβ thalassemia, while also providing an overview of the thalassemia burden in the region.

Methods

A retrospective study was conducted on 534 blood samples submitted to the Institute for Medical Research (IMR), Malaysia, for β-thalassemia genotyping between January 2017 and December 2019. Demographic data, including

SUBMITTER: Abdul Hamid FS 

PROVIDER: S-EPMC12480163 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature