National Public Health Laboratory, Teku, Kathmandu, Nepal.
Maharajgunj Medical Campus, Institute of Medicine, Tribhuvan University, Kathmandu, Nepal.
J Nepal Health Res Counc. 2020 Apr 20;18(1):52-58. doi: 10.33314/jnhrc.v18i1.2303.
Sickle cell and thalassemia are the inherited disorders of globin chain synthesis, and are the most common monogenic disease worldwide. This study aims to find the distribution of hemoglobinopathies (sickle cell and thalassemia) cases in Nepal using laboratory based data.
A retrospective study was carried out at five different sites of Nepal Government that uses capillary electrophoresis for screening of hemoglobin disorders from January 2019 to March 2019. All the cases diagnosed positive for hemoglobinopathy till December 2018 were collected from laboratory record at each sites, and analyzed using Statistical Package for Social Sciences (SPSS version 20.0).
Out of total 4018 patients tested during the period in all five different sites, 1470 were diagnosed positive for hemoglobinopathy. Sickling disorder was the most predominant hemoglobinopathy followed by ?-thalassemia. Province 5, province 6 and province 7 were mostly affected by sickling disorder while the other provinces by ?-thalassemia.
Sickle cell is the commonest cause of hemoglobinopathy followed by B thallesmias in Nepalese population. Sickle cell is more concentrated towards western part of Nepal and especially in Tharu ethnic population. In contrast, the distribution of ?-thalassemia is found throughout the country and among all ethnic groups of population.
镰状细胞病和地中海贫血症是珠蛋白链合成的遗传性疾病，是全球最常见的单基因疾病。本研究旨在利用基于实验室的资料，找出尼泊尔血红蛋白病（镰状细胞病和地中海贫血症）的分布情况。
本回顾性研究于 2019 年 1 月至 2019 年 3 月在尼泊尔政府的五个不同地点进行，这些地点采用毛细管电泳法筛查血红蛋白紊乱。从每个地点的实验室记录中收集截至 2018 年 12 月所有诊断为血红蛋白病阳性的病例，并使用社会科学统计软件包（SPSS 版本 20.0）进行分析。
在五个不同地点的 4018 名患者中，有 1470 名被诊断为血红蛋白病阳性。镰状细胞病是最常见的血红蛋白病，其次是β地中海贫血。第 5 省、第 6 省和第 7 省受镰状细胞病影响最大，而其他省份受β地中海贫血影响最大。
镰状细胞病是尼泊尔人群中最常见的血红蛋白病，其次是 B 型地中海贫血。镰状细胞病主要集中在尼泊尔西部，特别是在塔鲁族人群中。相比之下，β地中海贫血的分布遍及全国，涉及到所有民族。
