Premarital Screening and Genetic Counseling (PMSGC) program is essential for testing couples before marriage for sickle cell disease (SCD) and β-thalassemia and hepatitis B virus (HBV), hepatitis C virus (HCV), and human immunodeficiency virus (HIV)1. This program provides consultations to inform couples about disease risks and options for family planning1. By detecting and managing these conditions early, premarital testing has significantly reduced disease burdens and healthcare costs globally2. In Saudi Arabia, where cultural practices like consanguineous marriages contribute to higher disease rates, PMSGC Program ensures thorough screening for all couples, promoting informed choices and healthier families3.
We hypothesized that there are significant demographic associations with the prevalence of premarital test results in the Riyadh region. Our study aimed to investigate the prevalence of SCD, β-thalassemia, HIV, HBV, and HCV and their demographic associations in Riyadh region.
We used a retrospective cross-sectional design using secondary data obtained from the national data of the Healthy Marriage Program in the Ministry of Health (MOH) which covers 33 governmental and 23 private accredited centers in Riyadh region. Variables in data collection tool are demographic data (gender, age, and region) lab results for hematology and serology tests and diagnosis, and finally the status of the certificate. Participants who met the criteria for eligibility are any Saudi couple who underwent a premarital screening of sickle cell disease, β-thalassemia, HIV, HBV, and HCV in 2021 and 2023 in Riyadh region.
Our study screened a total of 916,295 participants, comprising 452,474 in 2021 and 463,821 in 2022. The gender distribution was 51.7% male and 48.3% female, with a mean age of 43 in 2021 and 41 in 2022. Among the participants, there were 196 SCD cases and 4,610 carriers while cases affected by β-thalassemia were 12 and carriers were 2,222 . Additionally, 1,069 participants tested positive for infectious diseases. Gender was a notable factor in SCD cases, HIV, HBV, and HCV.
In our study, the prevalence of SCD trait in Riyadh was found to be 2.52, compared to Oman, the SCD trait prevalence ranges between 4.8% and 6%, our finding is considered low4. Gender was shown to be a significant determinant in SCD trait. In addition, we found that older age groups had a much increased probability of being carriers of SCD. These findings suggest enhanced screening and diagnostic capabilities, better detection, and population changes like migration or demographic shifts may explain these results.
In our study, the prevalence of the SCD trait in Riyadh was 2.52%, lower compared to Oman's 4.8% to 6%4. Gender significantly influenced the SCD trait, with females showing a higher odds. Additionally, older age groups had an increased likelihood of being carriers rising with age. These findings suggest improved screening and detection, as well as potential demographic shifts. The prevalence of SCD cases in Riyadh was 0.11%, lower than the previously reported 0.15%5. This reduction may result from better healthcare access, increased awareness, and public health interventions such as genetic counseling and premarital screening programs. The β-thalassemia trait prevalence in Riyadh was 1.2%, lower than the 2.01% previously reported, indicating shifting patterns in thalassemia prevalence due to birth rates, preventive efforts, and population changes5,6.
Regarding HIV, females were more likely to be HIV positive. Only the 36-45 age group showed a reduced likelihood of HIV positivity. For HBV and HCV, females had a higher likelihood of being positive. In 2021, HBV prevalence was 0.5%, decreasing to 0.4% in 2022, while HCV prevalence dropped from 0.08% to 0.05%. These declines can be attributed to MOH efforts to manage and eliminate viral hepatitis by 2030.
Our findings highlight the importance of ongoing surveillance and intervention efforts through programs like the PMSGC. These initiatives are crucial for identifying at-risk individuals and reducing the burden of genetic disorders and infectious diseases with targeted public health strategies. Future research should focus on longitudinal studies to monitor trends and assess the long-term impact of preventive measures on disease prevalence and distribution in the region.
| Variables | 2021 | 2022 | Total | P value |
| Screened subjects | 452474 | 463821 | 916295 | |
| Gender | ||||
| Male | 233868(51.7%) | 239548(51.6%) | 473416(51.7%) | 0.687 |
| Female | 218606(48.3%) | 224273(48.4%) | 442879(48.3%) | |
| Age group | ||||
| 15-25 | 90851(20.1%) | 109894(23.7%) | 200745(21.9%) | 0.000 |
| 26-35 | 258219(57.1%) | 253362(54.6%) | 511581(55.8%) | |
| 36-45 | 68450(15.1%) | 65308(14.1%) | 133758(14.6%) | |
| 46-55 | 21879(4.8%) | 22025(4.7%) | 43904(4.8%) | |
| 56-65 | 9555(2.1%) | 9623(2.1%) | 19178(2.1%) | |
| ≥ 66 | 3520(0.8%) | 3609(0.8%) | 7129(0.8%) | |
| Sickle cell disease | 94(0.1%) | 102(0.11%) | 196(0.11%) | 0.688 |
| Sickle cell carriers (Trait) | 2250(2.49%) | 2360(2.54%) | 4610(2.52%) | 0.433 |
| Beta thalassemia diseased | 6(0.007%) | 6(0.006%) | 12(0.007%) | 0.966 |
| Beta thalassemia carriers (Trait) | 1125(1.24%) | 1097(1.18%) | 2222(1.2%) | 0.243 |
| Positive couples (HIV, HCV, HBV) | 578(0.13%) | 491(0.11%) | 1069(0.12%) | |
| Positive HIV | 56(0.06%) | 74(0.08%) | 130(0.07%) | 0.151 |
| Positive HCV | 72(0.08%) | 49(0.05%) | 121(0.07%) | 0.026 |
| Positive HBV | 450(0.5%) | 368(0.4%) | 818(0.45%) | 0.001 |
References
1. Ministry of Health - Saudi Arabia. Overview of Premarital Screening [Internet]. 2023 [cited 2023 Nov7]. Available from: https://www.moh.gov.sa/en/HealthAwareness/Beforemarriage/Pages/default…
2. Alhosain A. Premarital Screening Programs in the Middle East, from a Human Right’s Perspective. Divers Equal Health Care. 2018;15(2).
3. Memish ZA, Saeedi MY. Six-year outcome of the national premarital screening and genetic counseling program for sickle cell disease and β-thalassemia in Saudi Arabia. Ann Saudi Med. 2011;31(3):229–35.
4. Al-Mashaikhi N, Al-Rawas A, Wali Y, Soliman A, Khater D. The prevalence of sickling abnormality in Oman: A review of relevant publications. Acta Biomed. 2022 Aug 31;93(4):e2022289.
5. AlHamdan NA, AlMazrou YY, AlSwaidi FM, Choudhry AJ. Premarital screening for thalassemia and sickle cell disease in Saudi Arabia. Genetics in Medicine. 2007 Jun;9(6):372–7.
6. Kattamis A, Forni GL, Aydinok Y, Viprakasit V. Changing patterns in the epidemiology of β‐thalassemia. Eur J Haematol. 2020 Dec 21;105(6):692–703.