Detection of -28 (A>G) beta-thalassemia mutations by AMRS-PCR
Beta (β)-thalassaemia is the most common genetic disease of anemia caused by mutations on beta globin gene. In Vietnam, there is a high frequency of β -thalassemia carriers with a prevalence ranging from 1.5 % to 25.0 % in the different ethnic groups. To date, nine β thal mutations have been identified in the Vietnamese population from which the -28 (A>G) mutation exhibits variant frequency among different region of the country. In this study, we designed ARMS primer sets specific to the -28 (A>G) mutation and used them to obtimize ARMS-PCR conditions for detecting this mutation in 263 β-thalassaemia patients. Out of 263 patient, the -28 (A>G) mutation was found in 9 patients, accounting for 3.4 %. This result was consistent with a range of this mutation (2.8 % -7.3 %), which has been previously described to North and South regions in the country. The results of this study provide indicative data for preventive and control strategies concerning the genetic diagnosis of thalassemia in Vietnam.