Molecular basis of transfusion dependent beta-thalassemia major patients in Sabah
Beta-thalassemia is one of the most prevalent inherited diseases and a public health problem in Malaysia. Malaysia is geographically divided into West and East Malaysia. In Sabah, a state in East Malaysia, there are over 1000 estimated cases of β-thalassemia major patients. Accurate population frequ...
Сохранить в:
| Главные авторы: | , , , , , |
|---|---|
| Формат: | Статья |
| Язык: | English |
| Опубликовано: |
The Japan Society of Human Genetics
2014
|
| Online-ссылка: | http://psasir.upm.edu.my/id/eprint/34568/1/Molecular%20basis%20of%20transfusion%20dependent%20beta-thalassemia%20major%20patients%20in%20Sabah.pdf |
| Метки: |
Добавить метку
Нет меток, Требуется 1-ая метка записи!
|
| Итог: | Beta-thalassemia is one of the most prevalent inherited diseases and a public health problem in Malaysia. Malaysia is geographically divided into West and East Malaysia. In Sabah, a state in East Malaysia, there are over 1000 estimated cases of β-thalassemia major patients. Accurate population frequency data of the molecular basis of β-thalassemia major are needed for planning its control in the high-risk population of Sabah. Characterization of β-globin gene defects was done in 252 transfusion dependent β-thalassemia patients incorporating few PCR techniques. The study demonstrates that β-thalassemia mutations inherited are ethnically dependent. It is important to note that 86.9% of transfusion-dependent β-thalassemia major patients in Sabah were of the indigenous population and homozygous for a single mutation. The Filipino β0-deletion was a unique mutation found in the indigenous population of Sabah. Mutations common in West Malaysia were found in 11 (4.3%) patients. Four rare mutations (Hb Monroe, CD 8/9, CD 123/124/125 and IVS I-2) were also found. This study is informative on the population genetics of β-thalassemia major in Sabah |
|---|