Yasin Norafiza Mohd, Abdul Hamid Faidatul Syazlin, Hassan Syahzuwan, Mat Yusoff Yuslina, Mohd Sahid Ermi Neiza, Esa Ezalia
Haematology Unit, Cancer Research Center, Institute for Medical Research, National Institutes of Health, Ministry of Health, Shah Alam 40170, Selangor, Malaysia.
Diagnostics (Basel). 2023 Oct 23;13(20):3286. doi: 10.3390/diagnostics13203286.
Malaysia is a multicultural and multiethnic country comprising numerous ethnic groups. From the total population of 32.7 million, Malays form the bulk of the Bumiputera in Malaysia comprise about 69.9%, followed by Chinese 22.8%, Indian 6.6%, and others 0.7%. The heterogeneous population and increasing numbers of non-citizens in this country affects the heterogeneity of genetic diseases, diversity, and heterogeneity of thalassaemia mutations. Alpha (α)-thalassaemia is an inherited haemoglobin disorder characterized by hypochromic microcytic anaemia caused by a quantitative reduction in the α-globin chain. A majority of the α-thalassaemia are caused by deletions in the α-globin gene cluster. Among Malays, the most common deletional alpha thalassaemia is -α deletion followed by -- deletion. We described the molecular characterization of a new -- deletion in our population, involving both alpha genes in . Interestingly, we found that this mutation is unique among Malay ethnicities. It is important to diagnose this deletion because of the 25% risk of Hb Bart's with hydrops fetalis in the offspring when in combination with another α- thalassaemia allele. MLPA is a suitable method to detect unknown and uncommon deletions and to characterize those cases which remain unresolved after a standard diagnostic approach.
马来西亚是一个多元文化和多民族的国家，由众多民族组成。在3270万的总人口中，马来人构成了马来西亚土著的主体，约占69.9%，其次是华人22.8%、印度人6.6%，其他民族0.7%。该国人口的异质性以及非公民数量的增加影响了遗传疾病的异质性、地中海贫血突变的多样性和异质性。α地中海贫血是一种遗传性血红蛋白疾病，其特征是由于α珠蛋白链数量减少导致低色素小细胞贫血。大多数α地中海贫血是由α珠蛋白基因簇的缺失引起的。在马来人中，最常见的缺失型α地中海贫血是-α缺失，其次是--缺失。我们描述了我们人群中一种新的--缺失的分子特征，该缺失涉及两个α基因。有趣的是，我们发现这种突变在马来族中是独特的。由于与另一个α地中海贫血等位基因结合时，后代有25%的风险患Hb Bart's水肿胎儿，因此诊断这种缺失很重要。多重连接探针扩增（MLPA）是检测未知和罕见缺失以及对标准诊断方法后仍未解决的病例进行特征分析的合适方法。
