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Two beta-globin cluster-linked polymorphic loci in thalassemia patients of variable levels of fetal hemoglobin.

Bandyopadhyay S, Mondal BC, Sarkar P, Chandra S, Das MK, Dasgupta UB

Department 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.

Published 10 June 2005 in Eur J Haematol, 75(1): 47-53.
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