Author/Authors :
Naderi، Majid نويسنده Electrical Engineering Department, , , MiriMoghaddam، Ibrahim نويسنده , , Dorgalaleh، Akbar نويسنده Department of Hematology,Tehran University of Medical Sciences , Tehran, Iran Dorgalaleh, Akbar , Alizadeh، Shaban Ali نويسنده Department of Surgery, School of Medicine, Arak University of Medical Sciences, Arak, Iran , , Tabibian، Shadi نويسنده Department of Hematology, Tehran University of Medical Sciences, Tehran, Iran Tabibian, Shadi
Abstract :
The –? 3.7 rightward deletion is the most frequent ?-globin mutation but ??? (anti 3.7) triplication is relatively rare. We describe 2 years old female that was heterozygous of IVSI-5 mutation and homozygous ? 3.7 triplication. The hematological picture of B-thalassemia heterozygotes with a triplicated ?-globin gene arrangement is variable. Suggested that homozygous alpha-gene triplication interacts with a severe B-thalassemia mutation to cause ?-chain excess equivalent to that observed in homozygous B-thalassemia intermedia.