In Beta thalassemia, the most common gene mutation is?
The most common mutation causing a thalassemia is intron 1 inversion b thalassemia- AR, caused due to reduced synthesis of beta chain of hemoglobin. b thalassemias are the consequence of various point mutations on the globin gene clusters. Thalassemia mutations in India Mutations Frequency IVS1-5(G-C) 48% 619 bp deletion 18% IVS-1(G-T) 9% FR41/42(TCTT) 9% FR8/9 (+G) 5% Codonl5 (G-A) 5% Others 6% Total 100%
Intron 1 inversion
Intron 22
619 bp deletion
3.7 bp deletion
Thalassemia