沙特阿拉伯β-血红蛋白变异体的流行率和地区分布:全国婚前筛查计划的启示"。

IF 3.8 4区 医学 Q1 PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH Journal of Epidemiology and Global Health Pub Date : 2024-09-01 Epub Date: 2024-07-29 DOI:10.1007/s44197-024-00281-x
Mansour Aljabry, Suha Sulimani, Ghazi Alotaibi, Hassan Aljabri, Shaker Alomary, Omar Aljabri, Maha Sallam, Abdulrahman Alsultan
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引用次数: 0

摘要

背景:血红蛋白病是全球最常见的遗传性疾病之一,不同地区的携带者患病率差异很大。目的:本研究旨在通过评估参与国家婚前筛查计划的夫妇中β-血红蛋白变异体(包括罕见变异体)的患病率和地区分布情况,评估血红蛋白病的负担:从婚前基因筛查计划中收集数据并输入 SEHA 平台,该平台覆盖沙特阿拉伯 13 个行政区。血液样本接受了各种传染病和遗传病筛查测试。血红蛋白电泳样本采用毛细管电泳、高效液相色谱(HPLC)或两种方法的组合进行分析:从 2011 年到 2018 年,共有 1,871,184 人参与研究,其中男性占 49.8%,女性占 50.2%。平均年龄为 30.2 岁。88,431人中发现了血红蛋白S(HbS)(占检测人群的4.7%,占异常筛查结果的78.5%),主要是镰状细胞性状。β 地中海贫血症是第二大常见疾病,有 22,420 人(占总人口的 1.2%,占血红蛋白疾病的 19.9%)被检出。在 0.04% 的病例中检测到 HbC 和 HbD,在 0.007% 的病例中检测到 HbO-Arab,在 0.006% 的病例中检测到 HbG。血红蛋白 E 和血红蛋白 Lepore 则极为罕见:这项研究表明,沙特阿拉伯的血红蛋白基因变异流行率存在地区差异。为有效降低这一风险,必须加强公众教育,提高公众意识,尤其要重视基因筛查和咨询。
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Prevalence and Regional Distribution of Beta-Hemoglobin Variants in Saudi Arabia: Insights from the National Premarital Screening Program".

Background: Hemoglobinopathies are among the most prevalent inherited disorders globally, with carrier prevalence varying significantly across regions. In Saudi Arabia, high rates of consanguineous marriages amplify the risk of these disorders.

Aim: This study aims to assess the burden of hemoglobinopathies by evaluating the prevalence and regional distribution of beta-hemoglobin variants, including rare variants, among couples participating in the national premarital screening program.

Methods: Data were collected from the premarital genetic screening program and entered into the SEHA platform, covering the 13 administrative regions of Saudi Arabia. Blood samples underwent various screening tests for infectious and genetic diseases. Hemoglobin electrophoresis samples were analyzed using capillary electrophoresis, High-Performance Liquid Chromatography (HPLC), or a combination of both methods.

Results: From 2011 to 2018, 1,871,184 individuals were included in the study, with 49.8% male and 50.2% female. The average age was 30.2 years. Hemoglobin S (HbS) was identified in 88,431 individuals (4.7% of the tested population and 78.5% of abnormal screening results), primarily as a sickle cell trait. β-thalassemia was the second most common disorder, identified in 22,420 individuals (1.2% of the population and 19.9% of hemoglobin disorders). HbC and HbD were each detected in 0.04% of cases, while HbO-Arab was identified in 0.007% and HbG in 0.006%. Hemoglobin E and hemoglobin Lepore were found to be extremely rare.

Conclusion: The study demonstrates regional variation in the prevalence of hemoglobin genetic variants in Saudi Arabia. To effectively mitigate this risk, it is imperative to strengthen public education and awareness, particularly focusing on genetic screening and counseling.

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来源期刊
CiteScore
10.70
自引率
1.40%
发文量
57
审稿时长
19 weeks
期刊介绍: The Journal of Epidemiology and Global Health is an esteemed international publication, offering a platform for peer-reviewed articles that drive advancements in global epidemiology and international health. Our mission is to shape global health policy by showcasing cutting-edge scholarship and innovative strategies.
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