Aliza MY, Nor Asiah M, Manaf AA, Chin YM, Normi M, Zubaidah Z and George E (2012). Prevalence and disease burden of common alpha thalassemia deletions in Malaysian blood donors: a multi ethnic population. International Journal of Scientific and Research Publications 2(4): 89-93.
Alpha thalassaemia is common in Malaysia which comprises of Malays, Chinese, Indians and other ethnics. Therefore it is important to determine the prevalence of common alpha thalassemia deletions that are --SEA, --THAI, --FIL, -α3.7 and α4.2, and to estimate the number of pregnancies each year in which the fetus would be at risk and contribute for deletional Hb Barts hydrops foetalis syndrome and deletional HbH disease in Malaysia. In this study, a cross-sectional study of 94 Malays, 129 Chinese and 7 others from Health Awareness Campaign was carried out using standard haematological analysis, multiplex PCRs and statistical analysis. Red Cell Mean Corpuscular Volume (MCV) < 80 fL was identified in 38 (16.5%) with exclusion of Indians. 17 (7.4%) of blood donors showed alpha thalassaemia deletions. 3.5% were with double gene deletion and 3.9% with single gene deletions. --SEA was seen in 7(5.4%) Chinese and 1(1.1%) Malay. -α3.7 was seen in 7 (3.0%) of 4 (4.3%) Malays, 2 (1.6%) Chinese and 1 other ethnic. -α4.2 was seen in 2 Chinese (0.9%). The projected number of pregnancies at risk and contribute for deletional Hb Barts hydrops foetalis syndrome and deletional HbH disease each year in Malaysia is 30 and 120 in the Malays, 250 and 150 in the Chinese, 640 in combination and on average is 600 and 669 respectively. The current prevalence and projected number of pregnancies at risk of deletional Hb Barts hydrops foetalis syndrome and deletional HbH disease will help to achieve a better disease management in order to lessen present alpha thalassaemia burden and to prevent much higher alpha thalassaemia birth in Malaysia.