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Two β‐globin cluster‐linked polymorphic loci in thalassemia patients of variable levels of fetal hemoglobin

Abstract:  Objective: To correlate different polymorphisms of the β‐globin cluster with fetal hemoglobin (HbF) level in β‐thalassemia and E‐β thalassemia patients. Methods: Fifteen thalassemia patients, seven with high HbF and not requiring transfusion, eight with lower HbF and requiring transfusion were studied for β‐globin mutation, concurrent inheritance of α‐thalassemia, RFLP haplotype, a C→T polymorphism at −158 of Gγ and configuration of an (AT)xTy motif at −540 of β‐globin gene. Results: Senegal 5′β‐haplotype and the polymorphism at −158 of G was (P = 0.063) was linked to the high‐HbF phenotype but the (AT)9T5 configuration of the (AT)xTy motif was not (P = 0.6). Study of 30 chromosomes revealed 7 different configurations of the (AT)xTy motif. Association of these motifs with specific β‐globin mutations of this region has also been determined. Conclusion: The senegal haplotype and the polymorphism at −158 of G was linked to the high‐HbF phenotype.