A Patient With Coinheritance of Alpha-Globin Gene Triplication and IVSI-5 Mutation of Beta-Globin Gene

Abstract

The –α 3.7 rightward deletion is the most frequent α-globin mutation but ααα (anti 3.7) triplication is relatively rare. We describe 2 years old female that was heterozygous of IVSI-5 mutation and homozygous α 3.7 triplication. The hematological picture of β-thalassemia heterozygotes with a triplicated α-globin gene arrangement is variable. Suggested that homozygous alpha-gene triplication interacts with a severe β-thalassemia mutation to cause α-chain excess equivalent to that observed in homozygous β-thalassemia intermedia.