Teh Lai Kuan, George Elizabeth, Lai Mei I, Tan Jin Ai Mary Anne, Wong Lily, Ismail Patimah
Department of Pathology, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Serdang, Malaysia.
Department of Biomedical Science, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
J Hum Genet. 2014 Mar;59(3):119-23. doi: 10.1038/jhg.2013.131. Epub 2013 Dec 26.
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.
β地中海贫血是马来西亚最普遍的遗传性疾病之一，也是一个公共卫生问题。马来西亚在地理上分为西马来西亚和东马来西亚。在东马来西亚的一个州沙巴，估计有超过1000例重型β地中海贫血患者。为了在沙巴的高危人群中规划其控制措施，需要准确的重型β地中海贫血分子基础的人群频率数据。采用几种聚合酶链反应技术，对252例依赖输血的β地中海贫血患者进行了β珠蛋白基因缺陷的特征分析。该研究表明，遗传的β地中海贫血突变具有种族依赖性。需要注意的是，沙巴86.9%的依赖输血的重型β地中海贫血患者为原住民，且为单一突变的纯合子。菲律宾β(0)缺失是在沙巴原住民中发现的一种独特突变。在11例(4.3%)患者中发现了西马来西亚常见的突变。还发现了四种罕见突变(Hb Monroe、CD 8/9、CD 123/124/125和IVS I-2)。这项研究为沙巴重型β地中海贫血的群体遗传学提供了信息。
