ABSTRACT
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 beta-thalassemia but the outcomes were not quantified. We used six years of premarital screening data to estimate the burden of sickle disease and beta-thalassemia over the program period and to assess the frequency of at-risk marriage detection and prevention. Retrospective review, premarital couples attending premarital and genetic counseling clinics with marriage proposals between 2004 and 2009. Blood samples obtained from all couples with marriage proposals between 2004 and 2009 were tested for sickle cell disease and beta-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. Out of all men and women examined, 70962 [4.5%] and 29006 [1.8%] were carriers or cases of sickle cell disease and beta-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 beta-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. 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