Molecular basis of a high Hb A₂/Hb Fβ-thalassemia trait: a retrospective analysis, genotype-phenotype interaction, diagnostic implication, and identification of a novel interaction with α-globin gene triplication.

ABSTRACT:

Background

β ⁰-thalassemia deletion removing 5´β-globin promoter usually presents phenotype with high hemoglobin (Hb) A₂ and Hb F levels. We report the molecular characteristics and phenotype-genotype correlation in a large cohort of the β ⁰-thalassemia with 3.4 kb deletion.

Methods

A total of 148 subjects, including 127 heterozygotes, 20 Hb E-β-thalassemia patients, and a double heterozygote with α-globin gene triplication, were recruited. Hb and DNA analysis were performed to identify thalassemia mutations and four high Hb F single nucleotide polymorphisms (SNPs) including four base pair deletion (-AGCA) at ^A γ-globin promoter, rs5006884 on OR51B6 gene, -158 ^G γ-Xmn</

SUBMITTER: Soontornpanawet C 

PROVIDER: S-EPMC10163868 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature