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印度拉贾斯坦邦南部部落人群镰状细胞病的流行病学

Epidemiology of sickle cell disease in tribal population of Southern Rajasthan, India.

作者信息

Purohit Anil, Huda Ramesh K, Mohanty Suman S, Babu Bontha V

机构信息

Indian Council of Medical Research-National Institute for Implementation Research on Non- Communicable Diseases, New Pali Road, Jodhpur, 342005, India.

出版信息

Sci Rep. 2025 Jan 16;15(1):2196. doi: 10.1038/s41598-024-81224-1.

DOI:10.1038/s41598-024-81224-1
PMID:39820775
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11739570/
Abstract

BACKGROUND & OBJECTIVES: Sickle Cell Disease (SCD), a genetic condition, carries significant public health implications due to its impact on mortality, morbidity and quality of life. SCD is prevalent among tribal communities. The objective of this study was to conduct a screening of the tribal population and report the prevalence of SCD in southern Rajasthan, India.

METHODS

A cross-sectional study was conducted in two blocks of southern Rajasthan to determine the prevalence of Sickle Cell Trait (SCT) and SCD. The study population underwent screening for SCD initially using the solubility test method. Family members of individuals tested positive for the solubility test were also screened. Subsequently, blood samples were collected from individuals who were positive for the solubility test. The confirmation of SCT and SCD was carried out through HPLC.

RESULTS

The prevalence of SCT and SCD was 9.87% and 0.32%, respectively. The highest combined prevalence (including SCT and SCD) of 15.52% was observed among the Garasiya tribe, followed by the Bhil tribe with the prevalence of 9.68%.

CONCLUSION

SCD is moderately prevalent, with less than a per cent among the tribal population of Southern Rajasthan. However, the prevalence of SCT is about 10%. The study also highlights the feasibility of implementing a population-based screening program. This program can be readily implemented within tribal habitations as a component of the proposed national SCD program.

摘要

背景与目的

镰状细胞病(SCD)是一种遗传性疾病,因其对死亡率、发病率和生活质量的影响而具有重大的公共卫生意义。SCD在部落社区中普遍存在。本研究的目的是对部落人群进行筛查,并报告印度拉贾斯坦邦南部SCD的患病率。

方法

在拉贾斯坦邦南部的两个街区进行了一项横断面研究,以确定镰状细胞性状(SCT)和SCD的患病率。研究人群最初采用溶解度测试方法进行SCD筛查。溶解度测试呈阳性的个体的家庭成员也进行了筛查。随后,从溶解度测试呈阳性的个体中采集血样。通过高效液相色谱法(HPLC)对SCT和SCD进行确认。

结果

SCT和SCD的患病率分别为9.87%和0.32%。在加拉西亚部落中观察到最高的综合患病率(包括SCT和SCD)为15.52%,其次是比尔部落,患病率为9.68%。

结论

SCD在拉贾斯坦邦南部部落人群中的患病率中等,低于1%。然而,SCT的患病率约为10%。该研究还强调了实施基于人群的筛查项目的可行性。作为拟议的国家SCD项目的一个组成部分,该项目可以很容易地在部落聚居地实施。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc22/11739570/bcc797912bce/41598_2024_81224_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc22/11739570/bcc797912bce/41598_2024_81224_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc22/11739570/bcc797912bce/41598_2024_81224_Fig1_HTML.jpg

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本文引用的文献

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Hemoglobin. 2023 Nov;47(6):227-236. doi: 10.1080/03630269.2023.2300675. Epub 2024 Jan 22.
2
Burden of sickle cell disease in tribal students in institutions in southern Rajasthan - A pilot study.拉贾斯坦邦南部部落学生镰状细胞病负担-一项初步研究。
Indian J Med Res. 2022 Aug;156(2):269-274. doi: 10.4103/ijmr.ijmr_3195_21.
3
Feasibility of population-based screening of sickle cell disease through the primary health care system in tribal areas of India.
印度部落地区通过初级卫生保健系统进行基于人群的镰状细胞病筛查的可行性。
J Med Screen. 2023 Mar;30(1):28-35. doi: 10.1177/09691413221123131. Epub 2022 Aug 28.
4
Prevalence of sickle cell disease among children of tribal population in India: Feasibility of screening at community level in low-resource settings.印度部落人口儿童镰状细胞病的患病率:资源匮乏地区社区层面筛查的可行性。
Pediatr Blood Cancer. 2021 Jun;68(6):e28911. doi: 10.1002/pbc.28911. Epub 2021 Feb 1.
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Neonatal Screening and the Clinical Outcome in Children with Sickle Cell Disease in Central India.印度中部镰状细胞病患儿的新生儿筛查及临床结局
PLoS One. 2016 Jan 19;11(1):e0147081. doi: 10.1371/journal.pone.0147081. eCollection 2016.
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The Chhattisgarh state screening programme for the sickle cell gene: a cost-effective approach to a public health problem.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。
J Community Genet. 2015 Oct;6(4):361-8. doi: 10.1007/s12687-015-0222-8. Epub 2015 Mar 31.
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Feasibility of a newborn screening and follow-up programme for sickle cell disease among South Gujarat (India) tribal populations.印度古吉拉特邦南部部落人群镰状细胞病新生儿筛查及随访项目的可行性
J Med Screen. 2015 Mar;22(1):1-7. doi: 10.1177/0969141314557372. Epub 2014 Oct 23.
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