Two beta-globin cluster-linked polymorphic loci in thalassemia patients of variable levels of fetal hemoglobin
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Published on: September 6, 2017
Sanmay Bandyopadhyay1, Bama Charan Mondal, Pabak Sarkar
1Department of Biophysics, Molecular Biology and Genetics, University of Calcutta, 92 APC Road, Kolkata 700009, India.
Objective:
To correlate different polymorphisms of the beta-globin cluster with fetal hemoglobin (HbF) level in beta-thalassemia and E-beta thalassemia patients.
Methods:
Fifteen thalassemia patients, seven with high HbF and not requiring transfusion, eight with lower HbF and requiring transfusion were studied for beta-globin mutation, concurrent inheritance of alpha-thalassemia, RFLP haplotype, a C-->T polymorphism at -158 of Ggamma and configuration of an (AT)(x)T(y) motif at -540 of beta-globin gene.
Results:
Senegal 5'beta-haplotype and the polymorphism at -158 of G(gamma) was (P = 0.063) was linked to the high-HbF phenotype but the (AT)(9)T(5) configuration of the (AT)(x)T(y) motif was not (P = 0.6). Study of 30 chromosomes revealed 7 different configurations of the (AT)(x)T(y) motif. Association of these motifs with specific beta-globin mutations of this region has also been determined.
Conclusion:
The senegal haplotype and the polymorphism at -158 of G(gamma) was linked to the high-HbF phenotype.
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