Department of Pathology, College of Medicine, King Saud University Medical City King Saud University, Riyadh, Saudi Arabia.
Premarital Program, Ministry of Health, Riyadh, Saudi Arabia.
J Epidemiol Glob Health. 2024 Sep;14(3):1242-1248. doi: 10.1007/s44197-024-00281-x. Epub 2024 Jul 29.
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.
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.
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.
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.
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.
血红蛋白病是全球最常见的遗传性疾病之一，其携带者在不同地区的患病率存在显著差异。在沙特阿拉伯，高比例的近亲结婚加剧了这些疾病的风险。
本研究旨在通过评估参与国家婚前筛查计划的夫妇中β-血红蛋白变体（包括罕见变体）的流行率和区域分布，来评估血红蛋白病的负担。
数据来自婚前遗传筛查计划，并输入 SEHA 平台，涵盖沙特阿拉伯的 13 个行政区。血液样本接受了各种传染病和遗传病的筛查测试。血红蛋白电泳样本使用毛细管电泳、高效液相色谱法（HPLC）或这两种方法的组合进行分析。
从 2011 年到 2018 年，共有 1871184 人参与了这项研究，其中 49.8%为男性，50.2%为女性。平均年龄为 30.2 岁。在 88431 名个体中发现了血红蛋白 S（HbS）（受检人群的 4.7%和异常筛查结果的 78.5%），主要为镰状细胞特征。β-地中海贫血是第二常见的疾病，在 22420 名个体中发现（人群的 1.2%和血红蛋白疾病的 19.9%）。HbC 和 HbD 分别在 0.04%的病例中检测到，而 HbO-Arab 在 0.007%的病例中检测到，HbG 在 0.006%的病例中检测到。血红蛋白 E 和血红蛋白 Lepore 极为罕见。
本研究表明，沙特阿拉伯的血红蛋白遗传变体的流行率存在区域性差异。为了有效降低这种风险，必须加强公众教育和意识，特别是要注重遗传筛查和咨询。
