a patient with coinheritance of alpha-globin gene triplication and ivsi-5 mutation of beta-globin gene

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.