Exploring the Effectiveness of Mandatory Premarital Screening and Genetic Counselling Programmes for β-Thalassaemia in the Middle East: A Scoping Review

Abstract

Background: β-Thalassaemia is a common genetic blood disorder in the Middle Eastern region. Mandatory premarital screening and genetic counselling (PMSGC) programmes are implemented in 8 Middle East countries to reduce at-risk marriages and thus disease prevalence. A scoping review was conducted to explore the effectiveness of these programmes. Methods: The 6-stage scoping framework of Arksey and O'Malley [Int J Soc Res Methodol 2005;8:19-32] was used. Reported outcomes were analysed per country, with success defined as achieving a 65% reduction in at-risk marriages and/or thalassaemia-affected births. Emergent enablers and barriers were analysed thematically. Results: Twenty-one sources were included from the 1,348 identified, discussing 7 country programmes, with 95% (20/21) published during 2003-2013. Five publications each were included for Iran and Saudi Arabia, 3 for Turkey, 2 each for Bahrain and Iraq (Kurdistan), and 1 for the United Arab Emirates, plus 2 multi-country evaluations. No programme achieved a 65% at-risk marriage cancellation rate. Though data on thalassaemia-affected birth reductions were minimal, programmes in Iran, Turkey and Iraq reported at least 65% reductions. A thematic analysis found that screening timing, access to prenatal detection and abortion, socio-religious issues, awareness and counselling affected decisions. Conclusion: This review found that PMSGC programmes were unsuccessful in discouraging at-risk marriages but successful in reducing the prevalence of affected births in countries providing prenatal detection and therapeutic abortion. A life cycle approach to prevention, incorporation of school screening, awareness campaigns, reconsideration of therapeutic abortion, and screening and counselling of couples married prior to programme inception are likely to improve the effectiveness of such programmes in the Middle Eastern region.

Increased knowledge of thalassemia promotes early carrier status examination among medical students

“…The majority of the first year students in our university were of the opinion that premarital screening for thalassaemia is necessary and when they know that their partner is also a carrier, then they agree not to marry their partner, so that premarital counseling is needed. These findings confirm those of studies that premarital screening is necessary as one of the early screening strategies or genetic counselling, (2) and this can have an impact on families with thalassemia major. Early screening in the extended family is also very important, especially where resources and budgets for screening are limited.…”

“…(1)(2)(3)(4) The disease is not curable and the patients require life-long blood transfusion; however, new technologies offer the possibility for bone marrow transplantation. (5) Due to life-long blood transfusion, thalassemia patients may have complications of iron overload leading to abnormalities associated with iron deposition in tissues, ultimately resulting in death, thus necessitating iron chelation therapy.…”

The Lived Experience of Parents of Children with Sickle Cell Disease: A Qualitative Study

“…Premarital Screening and Genetic Counselling (MPSGC) programmes to screen for sexually and genetically transmitted diseases [19]. All parents in this study were married before the MPSGC programme was implemented in Jordan.…”

Should Premarital Screening for Blood Disorders be an Obligatory Measure in Oman?

“…Other factors affecting this issue might be an incomplete understanding of the potential risks of consanguinity due to inadequate counselling provided by healthcare workers. 14,15 Healthcare workers therefore need to have adequate time and training devoted to enhancing their genetic counselling skills.…”

“…20 Instead of focusing efforts solely on awareness, as per the cognitive model, a contextual change could involve adjusting the time point at which the test is performed, particularly as this may play an important role in the outcome. 14,21 Currently, those who undergo premarital screening in Oman are usually already engaged to be married and may therefore choose to ignore unfavourable screening results. 10,21,22 Mandatory screening should be carried out well before the individual is likely to get engaged, preferably during high school or university.…”