Sumedha Dharmarajan, Anita Kar
Interdisciplinary School of Health Sciences, Savitribai Phule Pune University (University of Pune), Pune, 411007, India.
Birth Defects Research Foundation, Pune, 411020, India.
J Community Genet. 2023 Dec;14(6):527-541. doi: 10.1007/s12687-023-00683-7. Epub 2023 Oct 20.
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.
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群体而异。本研究的目的是对已发表的研究进行系统综述,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。使用关键词“β地中海贫血 AND 印度”在PubMed数据库中进行搜索,共识别出1088篇文章,其中69篇被纳入综述。使用国际血液学标准化委员会推荐的诊断测试和方法的研究用于计算合并患病率。使用Review Manager 5.3版本的随机效应模型计算合并患病率。这些研究筛查了五类人群,即普通人群、部落群体、非部落群体社区、贫血患者以及因怀疑患有血红蛋白病而转诊的患者。这种异质性导致β地中海贫血携带者的合并患病率较高,为8.23%(95%置信区间7.36 - 9.10)。然而,亚组分析得出普通人群中β地中海贫血携带者的合并患病率为3.74%(95%置信区间2.52 - 4.97)。部落群体中的患病率为4.6%(95%置信区间3.2 - 6.2)。患病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、所筛查人群类型的异质性以及未使用推荐的诊断临界值。部落人群和普通人群中β地中海贫血携带者的患病率相似,这表明需要进一步调查部落群体中β地中海贫血携带者的患病率。