Variable genotype-phenotype correlations in patients with a rare nondeletional α-thalassemia; Hb Pak Num Po (HBA1: c.396_397insT).

Abstract excerpt

Transfusion-dependent Hb H disease is rarely reported. In the majority of patients, it is caused mainly by α(0)-thalassemia from deletions of 2 linked α-globin genes and nondeletional mutations. Previously, we had described 2 unrelated Thai patients with this condition because of compound heterozygosity of SEA-type deletion (--SEA/) and a novel nucleotide mutation: a thymine insertion at codon 131 of the α1 gene,...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to alpha-Thalassemia
• Share to Child, Preschool