Distribution of hemoglobinopathy disorders in Saudi Arabia based on data from the premarital screening and genetic counseling program, 2011-2015.

The prevalence rates of ß-thalassemia (ß-thal) and Sickle Cell Disease (SCD) in Saudi Arabia are considered one of the highest compared to surrounding countries in the Middle East (0.05% and 4.50%, respectively). In this study, Secondary data analysis was obtained from the premarital screening and genetic counseling program (PMSGC), and included 12,30,582 individuals from February 2011 to December 2015. Prevalence rates (per 1000 population) for ß-thal and SCD were calculated for carrier status, disease status and their combination. During the 5-year study period, the overall prevalence rate per 1000 population for ß-thal was 13.6 (12.9 for the trait and 0.7 for the disease). The prevalence rate for SCD was 49.6 (45.8 for the trait and 3.8 for the disease). Rates for ß-thal were found to decrease from 24.2 in 2011, to 12 in 2015. However, SCD rates remained rather constant and ranged from 42.3 in 2011 to 49.8 in 2015. The highest rate for both ß-thal and SCD was observed in the Eastern and Southern regions. This result reflects major accomplishment of the PMSGC. This study recommends further improvement in preventive measures in high-risk regions, and enhanced community awareness to provide the highest rate reduction for these disorders.

Assessment of the Knowledge and Attitudes of Saudi Mothers towards Newborn Screening.

OBJECTIVE: To assess the attitude and knowledge of the Saudi mothers toward newborn screening (NBS) program. METHODS: A total of 425 Saudi women (only mothers who have at least one pregnancy) participated in the study from different regions in Saudi Arabia and completed the structured questionnaire which sought their views on the NBS services. RESULTS: A majority of the participating women (91.1%) supported the NBS program and felt it was very important and useful. However, knowledge of NBS was found to be very limited and only 34.6% knew that NBS was a test to detect genetic disorders. A lack of communication and counseling to NBS clients by health authorities offering screening is implied. CONCLUSION: In general, there is a positive attitude towards the NBS program among Saudi women. However, they have several concerns to improve the availability of medication and formulas, genetic counseling, medical interventions, communication, education materials, and awareness.

Factors associated with public awareness of the Crown Health Program in the Al-Jouf Region.

OBJECTIVES: A community-based intervention, the Crown Health Project (CHP), was developed by the Ministry of Health. It was implemented on a small-scale in Al-Jouf Region in Northern Kingdom of Saudi Arabia to assess its feasibility and effectiveness so that it can be scaled up. This study primarily aimed at investigating factors associated with the awareness of CHP in order to improve subsequent campaigns for the program in Al-Jouf and other regions. A secondary aim was to assess possible changes of public awareness during intensification of the awareness campaign between October 2011 and May 2012. METHODS: A pre- and post-questionnaire cross-sectional approach was undertaken, and the intervention was an awareness campaign. Variables collected included demographic characteristics (e.g., age, gender, education, occupation, urban/rural residence) and CHP awareness (its existence, sources of knowledge about CHP, its goals and objectives, its target diseases, location of activities, participation in such activities). Logistic regression was used to analyze the awareness of the program according to participant characteristics, with a time of the survey as a variable. RESULTS: Awareness of the program was found to be 11 times higher among postsurvey respondents than presurvey respondents. Respondents of the second survey were better at correctly identifying "health education" as the main goal of the CHP (odds ratio [OR], 4.1; 95% confidence interval [CI], 3.1-5.5), "noncommunicable diseases" as the main diseases targeted (OR, 4.8; 95% CI, 3.6-6.4) and "attention to health" as the purpose (OR, 6.0; 95% CI, 4.0-8.9). CONCLUSION: The different activities of the CHP were successful in dramatically increasing awareness of the CHP program in Al-Jouf.

Screening for Type 2 Diabetes and Dysglycemia in Saudi Arabia: Development and Validation of Risk Scores.

OBJECTIVE: The prevalence of type 2 diabetes in Saudi Arabia is the highest worldwide after excluding small island nations. We developed and validated a noninvasive screening test based on demographic and clinical data for identifying adults with undiagnosed diabetes and dysglycemia in Saudi Arabia. RESEARCH DESIGN AND METHODS: Data from 1,485 nonpregnant Saudi adults ≥20 years of age without a current diagnosis of diabetes were obtained from urban and rural primary healthcare centers in 2009. Clinical and demographic data were obtained through physician-administered interviews. Oral glucose tolerance test data were used to define diabetes (fasting plasma glucose ≥7.0 mmol/L or 2-h post-load glucose ≥11.1 mmol/L) and dysglycemia (fasting plasma glucose ≥5.6 mmol/L or 2-h post-load glucose ≥7.8 mmol/L). Predictive models were developed using data from 1,435 individuals. Multivariable logistic regression and receiver operating characteristic curves were used to develop and evaluate a separate risk score for both diabetes and dysglycemia. Scores were validated on a hold-out sample of 50 individuals. RESULTS: The risk score for undiagnosed diabetes contained age, history of gestational diabetes, smoking, family history of diabetes, and central obesity with a sensitivity of 76.6% and a specificity of 52.1%. The dysglycemia risk score contained age, gestational diabetes, hypertension, and central obesity with a sensitivity of 71.2% and a specificity of 54.0%. All performed equally well, if not better, in the hold-out sample. CONCLUSIONS: These risk scores can identify Saudi adults with undiagnosed diabetes or dysglycemia and should be validated in prospective studies.

Six-year outcome of the national premarital screening and genetic counseling program for sickle cell disease and ß-thalassemia in Saudi Arabia.

BACKGROUND AND OBJECTIVES: Saudi Arabia has a high prevalence of hereditary hemoglobin disorders. Data has been collected by the Saudi Premarital Screening and Genetic Counseling Program on the prevalence of sickle cell disease and ß-thalassemia but the outcomes were not quantified. We used six years of premarital screening data to estimate the burden of sickle disease and ß-thalassemia over the program period and to assess the frequency of at-risk marriage detection and prevention. DESIGN AND SETTING: Retrospective review, premarital couples attending premarital and genetic counseling clinics with marriage proposals between 2004 and 2009. METHODS: Blood samples obtained from all couples with marriage proposals between 2004 and 2009 were tested for sickle cell disease and ß-thalassemia. Test results were shared with all examinees and genetic counseling was offered for all at-risk couples. Marriage certificates were issued irrespective of the results and compliance with medical advice was voluntary. RESULTS: Out of all men and women examined, 70,962 (4.5%) and 29,006 (1.8%) were carriers or cases of sickle cell disease and ß-thalassemia, respectively. While the prevalence of sickle cell disease was constant between 2004 and 2009 (average 45.1 per 1000 examined persons, P=.803), the prevalence of ß-thalassemia steadily decreased from 32.9 to 9.0 per 1000 examined persons (P<.001). The frequency of at-risk couples decreased by about 60% between 2004 and 2009 (from 10.1 to 4.0 per 1000 examined persons, P<.001). The frequency of voluntary cancellation of marriage proposals among at-risk couples showed more than 5-fold increase between 2004 and 2009 (from 9.2% to 51.9%, P<.001). The eastern region had 58% of all detected at-risk marriages and showed the greatest decline in detection and increase in prevention over time compared to other regions of Saudi Arabia. CONCLUSION: Six years of premarital screening in Saudi Arabia markedly reduced the number of at-risk marriages, which may considerably reduce the genetic disease burden in Saudi Arabia in the next decades.