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

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

Author information

1
Department of Haematology, All India Institute of Medical Sciences, New Pvt. Ward (2nd Floor), Ansari Nagar, New Delhi, 110 029 India.
2
Department of Environmental Biology, APS University Rewa, Rewa, India.

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

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