The first five years of a preventive programme for haemoglobinopathies in Northeastern Iraq

Abstract

Objective: To evaluate the feasibility and effectiveness of a preventive programme for haemoglobinopathies in a single centre in Northeastern Iraq. Methods: Premarital screening, genetic counselling and prenatal diagnosis (PND) were implemented over a 5 year period. Results: Among a total of 108,264 screened individuals (54,132 couples), b-thalassaemia trait, db-thalassaemia trait, and sickle cell trait were diagnosed in 3.98%, 0.11% and 0.07%, respectively. Of 130 at risk couples (2.4/1000), 107 (82%) were available for follow up, with 105 couples (98.1%) proceeding with their marriage after counselling. In the 125 registered pregnancies in the latter couples, PND was performed in 85 (in 80 couples, uptake 76%). Selective termination was chosen in 10 of the 11 pregnancies with an affected fetus. Six affected babies were born among couples who declined PND. At the same time 30 already married couples with at least one thalassaemic child underwent PND, revealing three affected fetuses; all three pregnancies were terminated. Conclusion: The programme revealed that most at risk couples diagnosed by premarital screening chose to proceed with their marriage, with 76% seeking PND followed by selective termination of an affected fetus. A 65% reduction in number of affected births was reported over the 5 year period. This regional programme could serve as a prototype for a national haemoglobinopathy prevention programme.

Premarital Screening for Hemoglobinopathies: Experience of a Single Center in Kurdistan, Iraq

“…Furthermore, the main risk groups were distributed between β-thal major, sickle cell/β-thal and sickle cell anemia, which is consistent with the reported prevalence rates of β-thal and sickle cell genes in the population [5]. The relative proportion of those at risk was almost twice as much as that reported earlier in Sulaimaniyah in Northeastern Iraq (2.4/1,000) [17]. The main reason for this observation is the higher rates of carriers of the sickle cell gene in Duhok as compared to Sulaimaniyah (1.2 vs. 0.2%) [5,9].…”

“…Only ∼10% of the at-risk couples decided to separate after being counseled, which is a higher rate than the 1.9% rate seen in a similar study in Sulaimaniyah [17]. The reasons for such high rates of those proceeding with their marriage plans, which were also reported following premarital carrier screening programs in Saudi Arabia [21,22], are mainly due to social and cultural obligations and commitments as the premarital screening is performed only a few days prior to the actual legal ceremony.…”

“…Thus, financial support of the PND aspect of the program and establishing PND locally could increase its uptake and result in further reduction in the number of affected babies born and in the costs of long-care management. This has been demonstrated in an earlier report from the nearby province of Sulaimaniyah, where financial support led to a much higher uptake of PND among the at-risk couples (76%) [17]. Similarly, Tosun et al [19] from Mersin in southern Turkey and Zahed and Bou-Dames [23] from Lebanon also found that high costs may be a limiting factor in the uptake of PND.…”

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

“…The average life expectancy of those with β-thalassaemia major is 32 years, and much shorter if untreated [3]. Additionally, regular blood transfusions may cause iron overload, leading to progressive cardiac damage and death [4]. Many β-thalassaemia patients in the Middle East progress to advanced stages within a few years of diagnosis due to an inadequate supportive infrastructure [5].…”

“…Genetic counselling is provided to at-risk couples to ensure they understand the reproductive risks and available options [4]. PMSGC programmes aim to reduce β-thalassaemia births through: (i) prevention of at-risk marriages by discouragement during counselling and, where legal, (ii) termination of affected foetuses through prenatal diagnosis (PND) and therapeutic abortion.…”