Abstract
Several rare and hitherto unidentified non deletional α-thalassemias (αTα or ααT) 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 (– –/αTα or – –/ααT) 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.