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

Abstract

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 β-thalassemia but the outcomes were not quantified. We used six years of premarital screening data to estimate the burden of sickle disease and β-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 β-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 β-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 β-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.

The Natural History of Sickle Cell Disease

“…Genotype identification with education and counseling on its significance would allow persons to make informed decisions on their choice of partner and should they wish, avoid the risks of a child with sickle cell disease. 2004 -2009) indicates that out of 1.5 million marriage proposals, there had been a steadily increasing rate of marriage cancellations among at-risk couples (Memish and Saeed 2011). Among at-risk couples who continue to marry, other potential options include prenatal diagnosis and preimplantation diagnosis (Xu et al 1999).…”

Prevention of sickle cell disease: observations on females with the sickle cell trait from the Manchester project, Jamaica

“…The advent of mandatory premarital screening programmes in both Bahrain and Saudi Arabia since 2004 will certainly reduce the number of affected births. Data from the Saudi programme for 2009 indicated that of nearly 300,000 engagements, marriage cancellations occurred in 52 % of the 1171 families receiving 'incompatible certificates' (Memish and Saeed 2011). Most published reports have occurred in communities with relatively low frequencies of the sickle cell gene and often high-technology resources offering prenatal diagnosis and termination such as the Cuban programme (Granda et al 1991) but logistical problems of follow-up and of monitoring pregnancy outcome have limited assessment of their impact.…”

“…It was concluded that the program had failed to achieve its goals although the small numbers limited the significance of this finding. Different conclusions were reached in the Kingdom of Bahrain, where voluntary premarital screening for the sickle cell gene reduced the prevalence of SS births from 2.0 to 0.9 % (Al Arrayed 2005a), and such screening became mandatory by Royal Decree in 2004 for both Bahrain (Al Arrayed 2005b) and for Saudi Arabia (Memish and Saeed 2011;Alswaidi et al 2012). These programmes will reduce the frequency of affected births but Bahrain and Saudi Arabia are Islamic societies with traditions of arranged marriage.…”

Voluntary premarital screening to prevent sickle cell disease in Jamaica: does it work?

“…In Bahrain, where 16% of the population carry the HbS gene, voluntary premarital screening for the sickle cell gene reduced the prevalence of SS births from 2.0 to 0.9% (Al Arrayed 2005) and became mandatory in June 2004. Similar legislation was passed in the same year for Saudi Arabia (Alswaidi et al 2012;Memish and Saeed 2011), and the published data for 2009 show that out of nearly 300,000 marriage proposals, 1171 received 'incompatible certificates' of which, 608 (52%) marriages were cancelled. However, experience from Islamic societies with traditions of arranged marriages may not be applicable to other communities.…”