印度β地中海贫血携带者的患病率:一项系统综述和荟萃分析。

IF 1.5 Q4 GENETICS & HEREDITY Journal of Community Genetics Pub Date : 2023-12-01 Epub Date: 2023-10-20 DOI:10.1007/s12687-023-00683-7
Dharmarajan Sumedha, Kar Anita
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引用次数: 0

摘要

大量研究报告称,印度β地中海贫血携带者的患病率因种族而异。本研究的目的是对已发表的研究进行系统回顾,并进行荟萃分析,以确定印度β地中海贫血携带者的患病率。PubMed数据库使用关键词“β地中海贫血与印度”进行搜索,确定了1088篇文章,其中69篇文章被纳入综述。使用国际血液学标准化委员会推荐的诊断测试和方法进行的研究用于计算合并患病率。使用Review Manager 5.3版的随机效应模型计算合并患病率。研究筛选了五类人群,即普通人群;部落团体、不属于部落团体的社区、贫血患者和疑似血红蛋白病患者。这种异质性导致β-地中海贫血携带者的合并患病率高达8.23%(95%CI 7.36-9.10)。然而,亚组分析得出,普通人群中β-地中海贫血症携带者的合并发病率为3.74%(95%CI 2.52-4.97)。在部落群体中为4.6%(95%CI 3.2-6.2)。流行率研究的质量受到方法学问题的限制,包括非随机抽样方法、筛查人群类型的异质性以及缺乏使用推荐的诊断截断值。β地中海贫血携带者在部落人群和普通人群中的患病率相似,这表明有必要进一步调查部落群体中β地中海贫血带菌者的患病率。
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Prevalence of beta thalassemia carriers in India: a systematic review and meta-analysis.

A large number of studies have reported that the prevalence of beta thalassemia carriers in India varies by ethnic groups. The objective of this study was to conduct a systematic review of the published studies and conduct a meta-analysis to determine the prevalence of beta thalassaemia carriers in India. A PubMed database search using keywords "beta thalassaemia AND India" identified 1088 articles of which 69 articles were included in the review. Studies using diagnostic tests and methods recommended by the International Council for Standardization in Haematology were used for calculation of pooled prevalence. Pooled prevalence was calculated using a random effects model using Review Manager version 5.3. Studies had screened five categories of populations, that is, the general population; tribal groups, communities not belonging to tribal groups, persons with anemia, and persons referred with a suspicion of hemoglobinopathy. This heterogeneity contributed to a high pooled prevalence of beta thalassemia carriers of 8.23% (95% CI 7.36-9.10). Sub-group analysis however yielded 3.74% (95% CI 2.52-4.97) pooled prevalence of beta thalassemia carriers in the general population. It was 4.6% (95% CI 3.2-6.2) among tribal groups. Quality of prevalence studies was limited by methodological issues including non-random sampling methods, heterogeneity of population types screened, and lack of use of recommended diagnostic cut-offs. Prevalence of beta thalassemia carriers was similar in tribal populations and the general population, indicating the need to further investigate the prevalence of beta thalassemia carriers in tribal groups.

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来源期刊
Journal of Community Genetics
Journal of Community Genetics GENETICS & HEREDITY-
CiteScore
3.30
自引率
5.30%
发文量
54
期刊介绍: The Journal of Community Genetics is an international forum for research in the ever-expanding field of community genetics, the art and science of applying medical genetics to human communities for the benefit of their individuals. Community genetics comprises all activities which identify persons at increased genetic risk and has an interest in assessing this risk, in order to enable those at risk to make informed decisions. Community genetics services thus encompass such activities as genetic screening, registration of genetic conditions in the population, routine preconceptional and prenatal genetic consultations, public education on genetic issues, and public debate on related ethical issues. The Journal of Community Genetics has a multidisciplinary scope. It covers medical genetics, epidemiology, genetics in primary care, public health aspects of genetics, and ethical, legal, social and economic issues. Its intention is to serve as a forum for community genetics worldwide, with a focus on low- and middle-income countries. The journal features original research papers, reviews, short communications, program reports, news, and correspondence. Program reports describe illustrative projects in the field of community genetics, e.g., design and progress of an educational program or the protocol and achievement of a gene bank. Case reports describing individual patients are not accepted.
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