The prevalence of HBG2 polymorphism among Beta Thalassemia major Children in El Minia Governorate and its correlations with HbF level.

Document Type : Original Article

Authors

Department of Clinical Pathology, El-Minia Faculty of Medicine

Abstract

Fetal hemoglobin (HbF) is the major modifier for thalassemia severity. HbF is modulated mainly by 
three major quantitative trait loci (QTL). One of the SNPs in these loci is HBG2. Thirty seven patients 
with beta thalassemia major from pediatric hematology unit of Minia University hospital, Minia were 
investigated by a panel of primers and probes using Polymorphism strip assay (β-Thal Modifier 
StripAssay) Vienna lab. In our study the frequency of wild CC genotypes were 31 patients (83.8%), 5 
patients (13.5%) were heterozygous CT and only 1 patient (2.7%) was homozygous TT. We also 
reveled significant association between HBG2 and Hb F level in beta thalassemia major patients in 
Minia governorate children. 

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