| Literature DB >> 24381431 |
Sanjay Pandey1, Sweta Pandey1, Ravi Ranjan1, Rahasyamani Mishra2, Monica Sharma1, Renu Saxena1.
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.Entities:
Keywords: Delta beta thalassemia; Gap-PCR; PCR; Thalassemia
Year: 2012 PMID: 24381431 PMCID: PMC3547438 DOI: 10.1007/s12291-012-0232-9
Source DB: PubMed Journal: Indian J Clin Biochem ISSN: 0970-1915