Maskoen Ani Melani, Rahayu Nurul S, Reniarti Lelani, Susanah Susi, Laksono Bremmy, Fauziah Prima Nanda, Zada Almira, Hidayat Dadang S
Oral Biology Department, Faculty of Dentistry, Universitas Padjadjaran, Indonesia.
Genetic Molecular Laboratory, Faculty of Medicine, Universitas Padjadjaran, Indonesia.
Cell Mol Biol (Noisy-le-grand). 2017 Dec 30;63(12):22-24. doi: 10.14715/cmb/2017.63.12.6.
Thalassemia is the most common hereditary haemolytic anemia in Southeast Asia, in which Indonesia is among countries that are at a high risk for thalassemia. It has been reported that mutation in the beta-globin gene is responsible in severe Thalassemia. However, the spectrum of beta-globin gene mutations in Indonesian population varies in different regions . Thus, this study aimed to identify the most prevalent mutation of Thalassemia patients from the Hasan Sadikin Hospital, Bandung, using this as a reference hospital for Thalassemia in West Java. The three most prevalent mutations of beta globin (IVS1nt5, Cd26 (HbE), and IVS1nt1), were conducted in the beginning of this study. Mutations of 291 samples were detected by PCR-RFLP in the Molecular Genetic Laboratory, Faculty of Medicine Universitas Padjadjaran, Bandung. The prevalence of the beta globin gene mutation types were 47.4% IVS1nt5 homozygote, 9.9% compound heterozygote IVS1nt5/HbE, 5.4% compound heterozygote IVS1nt5/IVS1nt1, 1.4% compound heterozygote HbE/IVS1nt1, 1% HbE homozygote, 14.4% Compound heterzygote IVS1nt5/… (no paired mutation), 2.06% compound heterozygote HbE/… (no paired mutation), 1.3% compound heterozygote IVS1nt1/… (no paired mutation), and 7 samples were unidentified. The thalassemia mutation IVS1nt5 homozygote is the most common mutation found in Thalassemia patients at Hasan Sadikin Hospital, Bandung. The samples with unidentified results might carry mutations other than the three that are observed in the present study.
地中海贫血是东南亚最常见的遗传性溶血性贫血，印度尼西亚是地中海贫血高风险国家之一。据报道，β-珠蛋白基因突变是重度地中海贫血的病因。然而，印度尼西亚不同地区人群中β-珠蛋白基因突变谱存在差异。因此，本研究旨在确定万隆哈桑·萨迪金医院地中海贫血患者中最常见的突变，该医院是西爪哇省地中海贫血的参考医院。本研究开始时检测了β珠蛋白的三种最常见突变（IVS1nt5、Cd26（HbE）和IVS1nt1）。在万隆帕捷贾兰大学医学院分子遗传实验室，通过聚合酶链反应-限制性片段长度多态性（PCR-RFLP）检测了291份样本的突变情况。β珠蛋白基因突变类型的患病率分别为：IVS1nt5纯合子47.4%、IVS1nt5/HbE复合杂合子9.9%、IVS1nt5/IVS1nt1复合杂合子5.4%、HbE/IVS1nt1复合杂合子1.4%、HbE纯合子1%、IVS1nt5/…（无配对突变）复合杂合子14.4%、HbE/…（无配对突变）复合杂合子2.06%、IVS1nt1/…（无配对突变）复合杂合子1.3%，另有7份样本未鉴定出突变类型。地中海贫血突变IVS1nt5纯合子是万隆哈桑·萨迪金医院地中海贫血患者中最常见的突变类型。未鉴定出结果的样本可能携带本研究中未观察到的其他突变。
