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


CONCLUSIONS
The senegal haplotype and the polymorphism at -158 of G(gamma) was linked to the high-HbF phenotype.
Bandyopadhyay
Sanmay
S
Department of Biophysics, Molecular Biology and Genetics, University of Calcutta, 92 APC Road, Kolkata 700009, India.
Mondal
Bama Charan
BC
Sarkar
Pabak
P
Chandra
Sarmila
S
Das
M K
MK
Dasgupta
Uma B
UB
D005260:Female; D005319:Fetal Hemoglobin / Q000032:analysis; D008040:Genetic Linkage; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male; D005810:Multigene Family / Q000235:genetics; D010641:Phenotype; D017354:Point Mutation; D012150:Polymorphism, Restriction Fragment Length; D040641:Quantitative Trait Loci / Q000235:genetics; D017085:alpha-Thalassemia / Q000097:blood / Q000235:genetics*
D006455:Hemoglobins, Abnormal; C502782:hemoglobin Senegal; D005319:Fetal Hemoglobin