ASSOCIATION OF HFE GENE MUTATION IN THALASSEMIA MAJOR PATIENTS
| Autor: | Amit Kumar Tiwari, Maikal Kujur, Amar Bhadur Singh, Tapas Ranjan Behera |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Genetics congenital hereditary and neonatal diseases and abnormalities PCR-RFLP Method lcsh:R5-130.5 business.industry Thalassemia Hfe gene nutritional and metabolic diseases medicine.disease S65C 03 medical and health sciences C282Y 030104 developmental biology 0302 clinical medicine HFE Gene Mutation hemic and lymphatic diseases 030220 oncology & carcinogenesis Mutation (genetic algorithm) Medicine H63D business Thalassemia Major lcsh:General works |
| Zdroj: | Journal of Evidence Based Medicine and Healthcare, Vol 3, Iss 89, Pp 4853-4855 (2016) |
| ISSN: | 2349-2570 2349-2562 |
| DOI: | 10.18410/jebmh/2016/1022 |
| Popis: | BACKGROUND Thalassemia major patients are dependent on frequent blood transfusion and consequently develop iron overload. HFE gene mutations (C282Y, H63D and S65C) in hereditary haemochromatosis has been shown to be associated with iron overload. The study aims at finding the association of HFE gene mutations in β-thalassemia major patients. MATERIALS AND METHODS A descriptive observational pilot study was conducted including fifty diagnosed -thalassemia major cases. DNA analysis by PCR-RFLP method for HFE gene mutations was performed. RESULTS Only H63D mutation (out of three HFE gene mutations) was detected in 8 out of 50 cases. Observed frequency of H63D mutation was 16%. While frequency of C282Y and S65C were 0% each. CONCLUSION The frequency of HFE mutation in -thalassemia major is not very common. |
| Databáze: | OpenAIRE |
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