The perception of genetic diseases and premarital screening tests in the central region of Saudi Arabia.

The prevalence of consanguineous marriages (CMs) varies worldwide from one country to another. However, the Middle East stands out as a region with a notably high rate of CMs. CM is particularly widespread in Saudi Arabia, where the prevalence of autosomal recessive genetic diseases has increased. This study aims to identify the Saudi population's awareness of genetic diseases and premarital screening tests (PMSTs). It also seeks to understand couples' perceptions of genetic diseases before and after marriage and their attitudes towards PMSTs and genetic counselling (GC) in reducing the risk of CM. Through the administration of online questionnaires, this cross-sectional study surveyed 2,057 participants to assess their awareness of genetic diseases and their understanding of testing and preventive measures for inherited diseases. Descriptive analysis, nonparametric chi-square tests and logistic regressions were performed to assess the association of categorical responses. This study included 2,035 Saudi Arabian respondents. A significant correlation was found between positive family history and partner selection (p = 0.001), as well as between partnering within the same tribe (p = 0.000139), with a different tribe (p = 0.000138) and from another family (p = 0.000489). About 91.3% of participants expressed agreement regarding the need to enhance public awareness and knowledge concerning genetic disorders, while 87% agreed that increased government regulations are required to prevent the spread of genetic diseases in affected families. Despite increased awareness of genetic diseases and PMSTs, there appears to be a lack of understanding regarding the limitations of PMSTs. The persistently high rate of CM underscores the challenge of altering marriage customs. Further governmental efforts are required to promote awareness of alternative reproductive options, establish new regulations and expand screening programmes.

Regional Prevalence of Hemoglobin C Across Saudi Arabia: An Epidemiological Survey.

INTRODUCTION: 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. AIM: 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. METHODS: 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. RESULTS: 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. CONCLUSION: 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.

Revealing Hepatitis B Virus as a Silent Killer: A Call-to-Action for Saudi Arabia.

BACKGROUND: The Kingdom of Saudi Arabia (KSA) was the first country in the Middle East to adopt the hepatitis B virus (HBV) vaccine. Despite an expanded HBV immunization program and significant progress in HBV prevention in the country, HBV infection is a significant public health burden. This review lists coordinated solutions for healthcare stakeholders, patients, and health authorities to curb HBV and its impact in KSA. It further aims to draw policymakers' attention to key priorities to bridge HBV care gaps in the country. METHODS: As part of the pre-engagement activity, medical experts across KSA were interviewed to gain a preliminary understanding of the current unmet needs in HBV management in the country. Top-recommended action points derived from the pre-engagement activity were discussed. Key priority action points to curb the impact of HBV in KSA were identified. RESULTS: The priority action points together with the challenges and unmet needs in the management and care of HBV in KSA were: (a) establish a national-level registry, (b) implement screening campaigns, (c) improve linkage of care between primary care physicians (PCPs) and specialists, and (d) increase PCP education and awareness. CONCLUSION: This work is an endeavor to set the stage for a strategic policy framework aimed at eliminating HBV in KSA. The action points/steps for the identified priorities must run parallelly across various regions in KSA, to successfully manage and further eliminate the threat of HBV.

Awareness of Premarital Screening and Genetic Counseling among Saudis and its Association with Sociodemographic Factors: a National Study.

BACKGROUND: Premarital screening and genetic counseling (PMSGC) is compulsory in Saudi Arabia and aims to identify and decrease the prevalence of some genetic and sexually transmitted infectious diseases. However, there are little data on community awareness about PMSGC. This study assessed knowledge levels, attitudes, and behaviors associated with PMSGC in the general Saudi Arabian population and their associations with sociodemographic characteristics. METHODS: This was a cross-sectional, population-based study of 6263 participants randomly selected from all 20 health regions in Saudi Arabia, stratified according to age and fulfilling predefined selection criteria. Trained data collectors used a comprehensive pretested questionnaire to collect data. Data were collected in March and April 2019. Univariable and multivariable associations between sociodemographic characteristics and knowledge levels, attitudes, and behaviors were examined. RESULTS: While all 6263 study participants had heard about PMSGC, only 575 (9.2%) participants had satisfactory knowledge, while 3283 (52.4%) participants had fair knowledge. Predictors of high knowledge scores were university or higher education level (aOR=2.06; 95% CI: 1.80-2.36), positive medical history of PMSGC-screened disease (aOR=2.02; 95% CI: 1.51-2.69), family income ≥3000 SR/month (aOR=1.70; 95% CI: 1.50-1.93), being married/previously married (aOR=1.46; 95% CI: 1.25-1.70), female gender (aOR=1.25; 95% CI: 1.12-1.40), and age >18 years (aOR=1.25; 95% CI: 1.06-1.48). The majority of participants (5246, 83.8%) had positive attitudes towards the importance of PMSGC, the burden of screened genetic and infectious diseases on the family, and that marrying was inadvisable with incompatible results. Of the 3986 engaged or married participants, 2911 (73.0%) had undertaken premarital screening, of whom 360 (12.4%) had incompatible results; 98 (37.1%) married despite this information. CONCLUSION: Despite advances in public healthcare measures in Saudi Arabia, gaps remain in the knowledge, beliefs, and behaviors associated with PMSGC. Culturally specific community health education programs for PMSGC must be devised that emphasize the risks associated with consanguineous marriage.