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一家地区医院通过脐带血筛查确定镰状细胞病的热点地区:印度视角

Identification of the hot-spot areas for sickle cell disease using cord blood screening at a district hospital: an Indian perspective.

作者信息

Dixit Sujata, Sahu Pushpansu, Kar Shantanu Kumar, Negi Sapna

机构信息

Regional Medical Research Centre (ICMR), Chandrasekharpur, Bhubaneswar, Odisha, India.

Kalahandi District Hospital, Bhawanipatna, Kalahandi, Odisha, India.

出版信息

J Community Genet. 2015 Oct;6(4):383-7. doi: 10.1007/s12687-015-0223-7. Epub 2015 Apr 10.

Abstract

Sickle cell disease (SCD), a genetic disorder often reported late, can be identified early in life, and hot-spot areas may be identified to conduct genetic epidemiology studies. This study was undertaken to estimate prevalence and to identify hot spot area for SCD in Kalahandi district, by screening cord blood of neonates delivered at the district hospital as first-hand information. Kalahandi District Hospital selected for the study is predominated by tribal population with higher prevalence of SCD as compared to other parts of Odisha. Cord blood screening of SCD was carried out on 761 newborn samples of which 13 were screened to be homozygous for SCD. Information on area of parent's residence was also collected. Madanpur Rampur area was found to be with the highest prevalence of SCD (10.52 %) and the gene distribution did not follow Hardy-Weinberg Equation indicating un-natural selection. The approach of conducting neonatal screening in a district hospital for identification of SCD is feasible and appropriate for prioritizing area for the implementation of large-scale screening and planning control measures thereof.

摘要

镰状细胞病(SCD)是一种常被延迟报告的遗传疾病,可在生命早期被识别,并且可以确定热点地区以开展遗传流行病学研究。本研究旨在通过筛查在地区医院出生的新生儿脐带血作为第一手信息,来估计卡拉汉迪地区SCD的患病率并确定其热点地区。被选用于该研究的卡拉汉迪地区医院以部落人口为主,与奥里萨邦其他地区相比,SCD患病率更高。对761份新生儿样本进行了SCD脐带血筛查,其中13份被筛查为SCD纯合子。还收集了父母居住地区的信息。发现马丹普尔兰布尔地区SCD患病率最高(10.52%),且基因分布不符合哈迪-温伯格平衡,表明存在非自然选择。在地区医院进行新生儿筛查以识别SCD的方法是可行的,并且适合于确定实施大规模筛查的优先区域及其规划控制措施。

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