Phenotypic heterogeneity of asian Indian inversion deletions gγ(aγδβ)0 breakpoint a and breakpoint B

Indian J Clin Biochem. 2013 Jan;28(1):98-101. doi: 10.1007/s12291-012-0232-9. Epub 2012 Jun 15.

Abstract

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

Keywords: Delta beta thalassemia; Gap-PCR; PCR; Thalassemia.

Publication types

  • Case Reports