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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.

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


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.


Delta beta thalassemia; Gap-PCR; PCR; Thalassemia

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