Aljabry Mansour, Sulimani Suha, Alotaibi Ghazi, Aljabri Hassan, Alomary Shaker, Adam Izzeldin, Aljabri Omar, Alzahrani Mansour Khater, Alsultan Abdulrahman
Pathology Department, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Premarital Program, Ministry of Health, Riyadh, Saudi Arabia.
J Epidemiol Glob Health. 2024 Jun;14(2):298-303. doi: 10.1007/s44197-024-00193-w. Epub 2024 Feb 19.
HbC is a common structural hemoglobinopathy especially in West Africa. Prevalence and regional distribution of HbC in Saudi Arabia are widely undocumented. Patients with homozygous HbC disease may have mild hemolytic anemia whereas combination with hemoglobin S (HbS) leads to a clinically severe phenotype.
The current epidemiological study, considered the largest from Saudi Arabia, aimed to evaluate the regional prevalence of the HbC variant among the couples participating in the premarital screening program from 2011 to 2018.
Data from the PMSGC program were obtained for premarital screening and genetic counseling. The collected data were then entered into the SEHA platform, a centralized electronic repository for the 13 designated regions in Saudi Arabia. Hemoglobin electrophoresis samples are analyzed using either HPLC, capillary electrophoresis, or a combination of both methods to confirm the presence of abnormal hemoglobin bands.
This study included 1,871,184 individuals from 2011 to 2018. Of those, 49.8% were males and 50.2% were females. 112,618 (6.0%) had an abnormal test. Total number of Hb C cases were 778 (0.04%). HbC trait (HbAC) was detected in 764 participants while homozygous HbC (HbCC) and combined heterozygous (HbSC) were found in 9 and 5 cases, respectively. The regions near the Red Sea have higher rates than the central and eastern regions.
HbC is a rare variant in Saudi Arabia with varying regional frequencies. HbC variant is more common in Mecca and Madina regions. The geographic area of HbC distribution differs from the areas with high prevalence of HbS, which explains why HbSC disease cases are overwhelmingly rare.
HbC是一种常见的结构性血红蛋白病,尤其在西非地区。沙特阿拉伯HbC的患病率和区域分布情况尚无广泛记录。纯合子HbC病患者可能有轻度溶血性贫血,而与血红蛋白S(HbS)合并则会导致临床严重表型。
当前这项来自沙特阿拉伯的流行病学研究规模最大,旨在评估2011年至2018年参与婚前筛查项目的夫妇中HbC变异体的区域患病率。
获取婚前医学筛查和遗传咨询项目(PMSGC)的数据。然后将收集到的数据录入SEHA平台,这是沙特阿拉伯13个指定地区的集中电子存储库。血红蛋白电泳样本使用高效液相色谱法(HPLC)、毛细管电泳法或两种方法结合进行分析,以确认异常血红蛋白条带的存在。
本研究纳入了2011年至2018年的1,871,184人。其中,男性占49.8%,女性占50.2%。112,618人(6.0%)检测结果异常。HbC病例总数为778例(0.04%)。在764名参与者中检测到HbC性状(HbAC),而分别在9例和5例中发现了纯合子HbC(HbCC)和复合杂合子(HbSC)。红海附近地区的患病率高于中部和东部地区。
HbC在沙特阿拉伯是一种罕见变异体,区域频率各不相同。HbC变异体在麦加和麦地那地区更为常见。HbC的分布地理区域与HbS高流行地区不同,这解释了为什么HbSC病病例极为罕见。