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Phenotypic Heterogeneity of Asian Indian Inversion Deletions Gγ(Aγδβ)0 Breakpoint A and Breakpoint B

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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.

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Acknowledgments

Sincere thanks to Mr. Naval Kishore, Mr. Suresh kumar, Mr.Rajesh Kumar and Mr.Bhanu Pratap, technical staff of department of hematology AIIMS, for expert assistance.

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Correspondence to Sanjay Pandey.

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Pandey, S., Pandey, S., Ranjan, R. et al. Phenotypic Heterogeneity of Asian Indian Inversion Deletions Gγ(Aγδβ)0 Breakpoint A and Breakpoint B. Ind J Clin Biochem 28, 98–101 (2013). https://doi.org/10.1007/s12291-012-0232-9

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  • DOI: https://doi.org/10.1007/s12291-012-0232-9

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