Open AccessEFFECT OF CIS ACTING POTENTIAL REGULATORS IN THE ß GLOBIN GENE CLUSTER ON THE PRODUCTION OF HBF IN THALASSEMIA PATIENTS
Author(s) -
Anita Nadkarni
Publication year - 2013
Publication title -
mediterranean journal of hematology and infectious diseases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.682
H-Index - 31
ISSN - 2035-3006
DOI - 10.4084/mjhid.2013.012
Subject(s) - thalassemia , allele , fetal hemoglobin , intermedia , genetics , gene cluster , hemoglobinopathy , medicine , gene , polymorphism (computer science) , heterozygote advantage , disease , microbiology and biotechnology , biology , fetus , pregnancy , art , performance art , art history
The clinical presentation of β-thalassemia intermedia phenotypes are influenced by many factors. The persistence of fetal hemoglobin and several polymorphisms located in the promoters of γ- and β-globin genes are some of them. The aim of this study was to evaluate the combined effect of the −158 Gγ (C→T) polymorphism and of the (AT)x(T)y configuration, as well as their eventual association with elevated levels of HbF in β-thalassemia carriers, β-thalassemia intermedia, β-thalassemia major and normal controls of Indian origin. The −158 Gγ T allele was found to be associated with increased levels of HbF in β thalassemia carriers, and not in wild-type subjects. In the homozygous group, the −158 Gγ T allele was significantly higher in the thalassemia intermedia group (66%) as against the thalassemia major group (21%). The (AT)9(T)5 allele did not show any association with raised HbF levels. However 24% of milder cases showed presence of this allele. This study suggests that two regions of the β globin cluster, whether in cis or in trans to each other, can interact to enhance HbF expression when a β thalassemic determinant is present in heterozygosity and help in amelioration of the severity of the disease in homozygotes.