Al-Dayan Noura
Medical Laboratory, Applied Medical Sciences, Prince Sattam Bin Abdulaziz University, Al-Kharj 16278, Saudi Arabia.
Medicina (Kaunas). 2025 Aug 14;61(8):1458. doi: 10.3390/medicina61081458.
: Hemoglobinopathies are genetic disorders of hemoglobin and are among the most common inherited diseases. The prevalence rates of sickle cell disease and thalassemia in Saudi Arabia are higher than those in other countries in the Middle East. Saudi Arabia has launched many prevention programs such as a premarital screening program, genetic counseling programs, and neonatal screening in order to reduce the incidence of genetic diseases. The former program includes the most common genetic diseases: sickle cell disease and thalassemia. Many studies conducted since the premarital program started have reported a decrease in the prevalence of sickle cell disease and thalassemia. However, all studies focus on large cities, including their subdivisions, but there is a lack of studies on subdivisions specifically. : The aim of this study was to assess the prevalence, 5-year time trend, and distribution of β-thalassemia and sickle cell traits in Al-Kharj province using the data of the PMSGC program during the period from January 2017 to February 2021. : A total of 21,150 individuals were screened, and 508 were diagnosed with sickle cell disease and thalassemia. Also, we showed that thalassemia was more prevalent than sickle cell disease (66% and 34%, respectively), and there was an increase in β-thalassemia and α-thalassemia. : Riyadh city's prevalence rate of β-thalassemia was reported as 7 per 1000, while the current study found a prevalence rate of 5.6 per 1000 in Al-Kharj, which suggests a possible increase as a result of population growth in Al-Kharj province as part of Riyadh city. This study recommends further improvement in preventive measures in high-risk regions, as well as enhanced community awareness, to provide the highest rate of reduction for disorders.
血红蛋白病是血红蛋白的遗传性疾病，是最常见的遗传病之一。沙特阿拉伯镰状细胞病和地中海贫血的患病率高于中东其他国家。沙特阿拉伯已经启动了许多预防项目，如婚前筛查项目、遗传咨询项目和新生儿筛查，以降低遗传病的发病率。前一个项目包括最常见的遗传病：镰状细胞病和地中海贫血。自婚前项目启动以来进行的许多研究报告称，镰状细胞病和地中海贫血的患病率有所下降。然而，所有研究都集中在大城市及其分区，但专门针对分区的研究却很缺乏。本研究的目的是利用2017年1月至2021年2月期间婚前医学检查和遗传咨询项目（PMSGC）的数据，评估哈吉尔省β地中海贫血和镰状细胞性状的患病率、5年时间趋势及分布情况。总共对21150人进行了筛查，其中508人被诊断患有镰状细胞病和地中海贫血。此外，我们发现地中海贫血比镰状细胞病更普遍（分别为66%和34%），并且β地中海贫血和α地中海贫血的患病率有所上升。据报道，利雅得市β地中海贫血的患病率为每1000人中有7人，而本研究发现哈吉尔（作为利雅得市一部分的哈吉尔省）的患病率为每1000人中有5.6人，这表明由于哈吉尔省人口增长，患病率可能会上升。本研究建议进一步改进高风险地区的预防措施，并提高社区意识，以最大程度降低疾病发生率。
