A Rare Association of α⁰-Thalassemia (– –^SEA) and an Initiation Codon Mutation (ATG→A-G) of the α2 Gene Causes Hb H Disease in Thailand

Abstract

Several rare and hitherto unidentified non deletional α-thalassemias (α^Tα or αα^T) have been reported from Thailand within the past few years. Interactions of these determinants with α⁰-thalassemia (thal) (– –/), which is highly prevalent in this region, give rise to various genotypes (– –/α^Tα or – –/αα^T) underlying Hb H disease. We report herein the interaction of a rare initiation codon mutation of the α2 gene and α⁰-thal in a Thai boy with Hb H disease. This finding highlights a wide variety of molecular pathology of the α-globin genes underlying α-thal syndrome in Southeast Asia.

• α-Thalassemia (thal)
• Hb H disease
• Initiation codon mutation