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Two β ‐globin cluster‐linked polymorphic loci in thalassemia patients of variable levels of fetal hemoglobin
Author(s) -
Bandyopadhyay Sanmay,
Mondal Bama Charan,
Sarkar Pabak,
Chandra Sarmila,
Das M. K.,
Dasgupta Uma B.
Publication year - 2005
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1111/j.1600-0609.2005.00416.x
Subject(s) - fetal hemoglobin , haplotype , thalassemia , phenotype , globin , genetics , hemoglobin , biology , polymorphism (computer science) , gene cluster , microbiology and biotechnology , hemoglobinopathy , gene , fetus , genotype , immunology , hemolytic anemia , biochemistry , pregnancy
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 G γ and configuration of an (AT) x T y 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) 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 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.