A Novel-Thalassemic Mutation, Codons 89/90-TG, Found in Two Korean Families / 대한임상병리학회지

ABSTRACT

We describe a novel-thalassemia mutation, the deletion of TG at codons 89/90 of the globin gene, found in two unrelated Korean families. Their hematological findings varied, but some patients showed prominent anemia. This mutation would introduce a premature stop codon (TGA) at codon 93. But a RNA study revealed that the / ratio was within normal range, and the amount of the mutant -globin RNA was comparable to that of normal-globin RNA. These data suggests this novel mutation as a dominant type. The haplotype and frameworks linked to the mutation were different between the two families.