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恰蒂斯加尔邦镰状细胞基因筛查项目:解决公共卫生问题的一种经济有效的方法。

The Chhattisgarh state screening programme for the sickle cell gene: a cost-effective approach to a public health problem.

作者信息

Patra P K, Khodiar P K, Hambleton I R, Serjeant G R

机构信息

Department of Biochemistry, Pt. J.N.M. Medical College, Raipur, Chhattisgarh State, India.

Chronic Disease Research Centre, The University of the West Indies, Cave Hill, Barbados, West Indies.

出版信息

J Community Genet. 2015 Oct;6(4):361-8. doi: 10.1007/s12687-015-0222-8. Epub 2015 Mar 31.

Abstract

In India, the Chhattisgarh State screening programme for sickle haemoglobin focuses on children aged 3-15 years and has screened over 1,050,440 subjects over the last 6 years. Commencing in the District around the capital Raipur, this programme has now completed screening in 7 of the 27 Districts of Chhattisgarh State. Screening is initially performed by solubility tests on fingerprick samples in the field and those with positive tests have venipunctures for haemoglobin electrophoresis. The frequency of the sickle cell trait was 9.64 % and of the SS phenotype 0.29 % with only two Districts in Hardy-Weinberg equilibrium, most Districts showing an excess of the SS 'phenotype' most readily explained by symptomatic selection. The estimated costs were US$0.28 (solubility tests alone) and US$0.60 (haemoglobin electrophoresis). Of the social groupings commonly used in India, the OBC's (other backward classes) had the highest frequencies of the sickle cell gene mutations, followed by the Scheduled Tribes and the Scheduled Castes. The objectives of the programme were the detection of sickle cell disease for prospective clinical management and of the sickle cell trait for purposes of genetic counselling. The former objective is being met for diagnosis although the success of referral to clinic services requires audit. The objective of genetic counselling is compromised by the failure of the screening test to detect other genes of potential clinical significance such as HbD Punjab and the beta thalassaemia trait. Despite these exceptions, the detection of HbS appears relatively robust and could be another condition factored into the traditions of partner selection amongst the underprivileged communities of this state. Overall, the Chhattisgarh programme seeks to address the daunting challenges of large populations carrying the sickle cell gene and maybe a useful model for elsewhere.

摘要

在印度,恰蒂斯加尔邦针对镰状血红蛋白的筛查项目聚焦于3至15岁的儿童,在过去6年里已对超过1050440名对象进行了筛查。该项目从首都赖布尔周边地区开始,目前已在恰蒂斯加尔邦27个区中的7个区完成了筛查。筛查最初在现场通过对手指采血样本进行溶解度测试来进行,测试呈阳性者需进行静脉穿刺以进行血红蛋白电泳。镰状细胞性状的频率为9.64%,SS表型的频率为0.29%,只有两个区处于哈迪-温伯格平衡状态,大多数区显示SS“表型”过多,最容易用症状性选择来解释。估计成本为0.28美元(仅溶解度测试)和0.60美元(血红蛋白电泳)。在印度常用的社会群体分类中,其他落后阶层(OBC)的镰状细胞基因突变频率最高,其次是在册部落和在册种姓。该项目的目标是检测镰状细胞病以便进行前瞻性临床管理,以及检测镰状细胞性状以便进行遗传咨询。尽管转诊至临床服务的成功情况需要审核,但诊断方面的前一个目标正在实现。由于筛查测试未能检测到其他具有潜在临床意义的基因,如HbD旁遮普和β地中海贫血性状,遗传咨询的目标受到了影响。尽管有这些例外情况,但HbS的检测似乎相对可靠,并且可能是该邦贫困社区择偶传统中需要考虑的另一个因素。总体而言,恰蒂斯加尔邦的项目旨在应对携带镰状细胞基因的大量人口所面临的艰巨挑战,可能是其他地区的一个有用模式。

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