EFFECT OF CIS ACTING POTENTIAL REGULATORS IN THE ß GLOBIN GENE CLUSTER ON THE PRODUCTION OF HBF IN THALASSEMIA PATIENTS
| Autor: | Pooja, Dabke, Roshan, Colah, Kanjaksha, Ghosh, Anita, Nadkarni |
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| Rok vydání: | 2013 |
| Předmět: |
Genetics
congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty lcsh:RC633-647.5 business.industry Thalassemia Promoter lcsh:Diseases of the blood and blood-forming organs Original Articles Hematology medicine.disease Phenotype Infectious Diseases Endocrinology Polymorphism (computer science) hemic and lymphatic diseases Internal medicine Fetal hemoglobin medicine Trans-acting Globin Allele business |
| Zdroj: | Mediterranean Journal of Hematology and Infectious Diseases Mediterranean Journal of Hematology and Infectious Diseases, Vol 5, Iss 1, Pp e2013012-e2013012 (2013) |
| ISSN: | 2035-3006 |
| DOI: | 10.4084/mjhid.2013.012 |
| Popis: | The clinical presentation of b-thalassemia intermedia phenotypes are influenced by many factors .The persistence of fetal hemoglobin and several polymorphisms located in the promoters of g- and b-globin genes are some of them .The aim of this study was to evaluate the combined effect of the -158Gg (CàT) polymorphism and of the (AT)x(T)y configuration, as well as their eventual association with elevated levels of HbF in b-thalassemia carriers, b-thalassemia Intermedia , b-thalassemia major and normal controls of Indian origin. The -158 Gg T allele was found to be associated with increased levels of HbF in b-thalassemia carriers, and not in wild-type subjects. In the homozygous group the -158 Gg 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 b globin cluster, whether in cis or in trans to each other, can interact to enhance HbF expression when a b thalassemic determinant is present in heterozigosity and help in amelioration of the severity of the disease in homozygotes. |
| Databáze: | OpenAIRE |
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