Centre for Applied Molecular Biology, University of the Punjab, Lahore, Pakistan.
Punjab Thalassemia Prevetion Program, Sir Ganga Ram Hospital Lahore, Pakistan.
J Pak Med Assoc. 2021 Jan;71(1(B)):326-331. doi: 10.47391/JPMA.665.
Beta thalassemia in Pakistan is a serious health concern with an estimated 5-8% carrier frequency and birth of 5000 major children every year in the country. The treatment of beta thalassemia major patients poses a great economic burden; hence, the ideal approach towards this disease should encompass effective prevention services. At present only one government funded project "Punjab Thalassemia Prevention Programme" existed in Punjab province, and providing free of cost services for beta thalassemia screening and prenatal diagnosis. Complete blood count and haemoglobin electrophoresis remains the preliminary test for screening, while chorionic villi sampling and amplification refractory mutation system method have been most widely used for molecular diagnosis of beta thalassemia. Modern molecular techniques, non-invasive prenatal diagnosis, and pre-implantation diagnosis are in trial phases. In this review we have discussed the available diagnostic facilities and status of prevention programmes for beta thalassemia in Pakistan as well as future perspectives.
巴基斯坦的β地中海贫血是一个严重的健康问题，估计携带者频率为 5-8%，该国每年有 5000 名重型儿童出生。β地中海贫血重型患者的治疗带来了巨大的经济负担；因此，针对这种疾病的理想方法应该包括有效的预防服务。目前，在旁遮普省只有一个政府资助的项目“旁遮普地中海贫血预防计划”，为β地中海贫血筛查和产前诊断提供免费服务。全血细胞计数和血红蛋白电泳仍然是筛查的初步检测方法，而绒毛取样和扩增难治性突变系统方法已被广泛用于β地中海贫血的分子诊断。现代分子技术、非侵入性产前诊断和植入前诊断正在试验阶段。在这篇综述中，我们讨论了巴基斯坦现有的β地中海贫血诊断设施和预防计划的状况以及未来的展望。
