Marchand Miles, Gill Carson, Malhotra Armaan K, Bell Carolyn, Busto Eric, McKeown Monica D, Cherukupalli Abhiram, Yeo Jordan, Arnold Brendan, Kapoor Videsh
a Medical Undergraduate Program, Faculty of Medicine , University of British Columbia , Vancouver , BC , Canada.
b Department of Family Practice, Faculty of Medicine , University of British Columbia , Vancouver , BC , Canada.
Hemoglobin. 2017 Jul-Nov;41(4-6):278-282. doi: 10.1080/03630269.2017.1414058.
Sickle cell disease is an inherited hemoglobinopathy associated with significant morbidity and mortality. Reports suggest a high sickle cell disease burden among the indigenous Tharu population of Nepal, who for centuries have inhabited regions where malaria is endemic. Unfortunately, health care resources are limited and often inaccessible for Tharu individuals suffering from sickle cell disease. We conducted a large-scale screening effort to estimate the prevalence of Hb S (HBB: c.20A>T) among the Tharu population and delivered community-based education sessions to increase sickle cell disease awareness. A total of 2899 Tharu individuals aged 6 months to 40 years in the rural district of Dang in Western Nepal were screened using a sickling test, of whom, 271 [9.3%; 95% confidence interval (95% CI): 8.3-10.4%] screened positive for Hb S. Those who screened positive were offered diagnostic gel electrophoresis testing. Of the 133 individuals who underwent diagnostic testing, 75.9% (n = 101) were confirmed to be Hb AS heterozygotes, 4.5% (n = 6) were confirmed to be Hb SS homozygotes and 19.5% (n = 26) were false positives. These findings support a large burden of sickle cell disease among the Tharu population and highlight the importance of appropriate resource allocation and management. With a positive predictive value of 80.0% (95% CI: 73.0-87.0%), the sickling test in conjunction with raising local sickle cell disease awareness may be a simple and sustainable way to promote access to health resources.
镰状细胞病是一种遗传性血红蛋白病，与显著的发病率和死亡率相关。报告显示，尼泊尔土著塔鲁族人群中镰状细胞病负担沉重，几个世纪以来，他们一直居住在疟疾流行的地区。不幸的是，医疗资源有限，患有镰状细胞病 的塔鲁族个体往往难以获得这些资源 。我们开展了一项大规模筛查工作，以估计塔鲁族人群中Hb S（HBB：c.20A>T）的患病率，并举办了以社区为基础的教育活动，以提高对镰状细胞病 的认识。在尼泊尔西部当县农村地区，对2899名年龄在6个月至40岁之间的塔鲁族个体进行了镰变试验筛查，其中271人[9.3%；95%置信区间（95%CI）：8.3 - 10.4%]Hb S筛查呈阳性。对筛查呈阳性的个体进行了诊断性凝胶电泳检测。在接受诊断检测的133名个体中，75.9%（n = 101）被确认为Hb AS杂合子，4.5%（n = 6）被确认为Hb SS纯合子，19.5%（n = 26）为假阳性。这些发现表明塔鲁族人群中镰状细胞病负担沉重，并突出了适当资源分配和管理的重要性。镰变试验结合提高当地对镰状细胞病 的认识，其阳性预测值为80.0%（95%CI：73.0 - 87.0%），可能是促进获得卫生资源的一种简单且可持续的方法。
