1. Molecular basis of transfusion dependent beta-thalassemia major patients in Sabah.
- Author
-
Teh, Lai Kuan, George, Elizabeth, Lai, Mei I, Tan, Jin Ai Mary Anne, Wong, Lily, and Ismail, Patimah
- Subjects
MOLECULAR biology ,BLOOD transfusion ,THALASSEMIA ,PUBLIC health ,DISEASE prevalence ,PATIENTS - Abstract
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 β
0 -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. [ABSTRACT FROM AUTHOR]- Published
- 2014
- Full Text
- View/download PDF