Phenotypic Heterogeneity of Asian Indian Inversion Deletions G gamma(A gamma delta beta)0 Breakpoint A and Breakpoint B

摘要

Asian Indian inversion deletion G gamma(A gamma delta beta)0-thalassemia is a rare entities characterized by high HbF. Due to interaction with various genetic factors, patients with G gamma(A gamma delta beta)O-thalassemia showed clinical variability. Here we are presenting the phenotypic expression of G gamma(A gamma delta beta)0 thalassemia under influence of various co-inherited factors. Patient with alpha-globin gene deletion had mild phenotype than the patient with beta-globin mutations. Patient with alpha gene deletion were presenting clinical character like thalassemia intermedia while G gamma(A gamma delta beta)0-thalassemia patients with co- presence of beta thalssemia mutation clinically behaved like thalassemia major.