背景:血红蛋白病是全球最普遍的遗传性疾病,不同地区的携带者患病率差异很大。在沙特阿拉伯,高比例的近亲婚姻会放大这些疾病的风险。
目的:本研究旨在通过评估β-血红蛋白变体的患病率和区域分布来评估血红蛋白病的负担,包括罕见的变种,在参加国家婚前筛查计划的夫妇中。
方法:从婚前遗传筛查计划中收集数据,并输入SEHA平台,覆盖沙特阿拉伯的13个行政区。血液样本接受了各种传染病和遗传疾病的筛查测试。使用毛细管电泳分析血红蛋白电泳样品,高效液相色谱法(HPLC),或两种方法的组合。
结果:从2011年到2018年,1,871,184人被纳入研究,男性占49.8%,女性占50.2%。平均年龄30.2岁。在88,431个人中发现了血红蛋白S(HbS)(占测试人群的4.7%和异常筛查结果的78.5%),主要是镰状细胞特征。β-地中海贫血是第二常见的疾病,在22,420个人中发现(占人口的1.2%和血红蛋白疾病的19.9%)。0.04%的病例分别检出HbC和HbD,而HbO-Arab的含量为0.007%,HbG的含量为0.006%。发现血红蛋白E和血红蛋白Lebore极为罕见。
结论:该研究表明沙特阿拉伯血红蛋白遗传变异的患病率存在区域差异。为了有效降低这种风险,必须加强公众教育和意识,特别关注基因筛查和咨询。
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.
OBJECTIVE: 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.
CONCLUSIONS: 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.