Molecular characterization of β-thalassemia intermedia in the West Bank, Palestine.

ABSTRACT:

Background

We aimed to investigate the molecular basis of β-Thalassemia intermedia (TI) in the West Bank region and its management practices.

Methods

This was a case series multi-center study and included 51 cases of TI. DNA sequencing was used to analyze β-globin gene mutations. Common α-globin gene mutations were screened by Gap-PCR (-α^3.7, -α^4.2, --^MED, ααα^anti3.7) or DNA sequencing (α2-IVS II 5 nt del). XmnI -158 C > T polymorphisms of Gγ-globin gene was determined by RFLP-PCR.

Results

Seven β-globin gene mutations were observed, namely IVS-I -6 C > T, IVS-I-110 G > A, IVS-II-1 G > A, IVS-I-1 G > A, Codon 37 Trp > Stop, beta - 101 and IVS-II-848 C > A. Ten genotypes were observed. Homozygosity for IVS-I-6 accounte

SUBMITTER: Faraon R 

PROVIDER: S-EPMC6380065 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature