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A rare association of alphaO-thalassemia (--SEA) and an initiation codon mutation (ATG-->A-G) of the alpha2 gene causes Hb H disease in Thailand.

Several rare and hitherto unidentified non deletional alpha-thalassemias (alphaTalpha or alphaalphaT) have been reported from Thailand within the past few years. Interactions of these determinants with alphaO-thalassemia (thal) (--/), which is highly prevalent in this region, give rise to various genotypes (--/ alphaTalpha or --/alphaalphaT) underlying Hb H disease. We report herein the interaction of a rare initiation codon mutation of the alpha2 gene and alphaO-thal in a Thai boy with Hb H disease. This finding highlights a wide variety of molecular pathology of the alpha-globin genes underlying alpha-thal syndrome in Southeast Asia.