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概要
Thalassemia Distribution Based on Screening Programs in the Population of the East Malaysian State of Sabah
Lailatul Hadziyah Mohd Pauzy, Ezalia Esa, Nizmah Mahani Mokhri, Yuslina Mat Yusoff, Nurul Amira Jamaludin, Zubaidah Zakaria
Objective: The aim of the study is to examine the distribution of thalassemia in the indigenous population of Sabah where thalassemia is most prevalent in Malaysia based on screening programs carried out at the public health centers.
Method: A total of 645 blood samples were obtained from all over Sabah for thalassemia screening in the month of May 2013. High performance Liquid Chromatography and Capillary Electrophoresis were used for analyzing the hemoglobin subtypes.
Result: 94% of the total sample came from voluntary screening offered at primary care level and various government-promoted programs while the other 6% were cascade screening. The study included patients from the age of 1 to 73 years old. The majority (97%; 624/645) were indigenous people and 94% of the total sample came from voluntary screening offered at primary care level via various government promoted programs. 82% were female, mostly screened during their antenatal visit. 30% (193/645) of the sample were tested positive for; β-Thalassemia trait (78%; 151/193), HbE trait (10%; 20/193), Homozygous HbE (2%; 4/193) and other haemoglobinopathies (7%; 13/193). The other 3% (5/193) of the abnormal results were inconclusive hence would require further molecular analysis. Among all the indigenous people screened, the Kadazandusuns had the highest occurrence of haemoglobinopathies (35%; 87/250), followed by the Muruts (33%; 15/45), Malays (29%; 19/65), other races (26%; 46/180) and the Bajau people (23%; 19/84).
Conclusion: Thalassemia is prevalent in the indigenous population of Sabah and most people are asymptomatic. Government health clinics play a crucial role in promoting greater awareness of the disease via campaigns and screening programs as they are easily accessible and oftentimes are the first point of contact with the community.