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

Abstract：

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.

journal_name

Eur J Haematol

journal_title

European journal of haematology

authors

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

doi

10.1111/j.1600-0609.2005.00416.x

subject

Has Abstract

pub_date

2005-07-01 00:00:00

pages

47-53

issue

1

eissn

0902-4441

issn

1600-0609

pii

EJH416

journal_volume

75

pub_type

杂志文章

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