Newly Diagnosed Cases of Major Hemoglobinopathies (2016-2021) in Duhok: How Effective is The Premarital Preventive Program?

Background and objectives: The hemoglobinopathy preventive program in Duhok has been implemented since 2008. We aimed to assess the effectiveness of the program through its ability to reduce the number of newly diagnosed cases. Methods: In this retrospective descriptive study, we reviewed newly diagnosed major hemoglobinopathy patients in the period between Jan. 2016 and Dec. 2021 in Duhok, Iraq. Parents of patients were interviewed regarding premarital screening, counseling, and prenatal diagnosis. For those missed by former screening, further testing was performed. Results: A total of 160 newly diagnosed major hemoglobinopathies over the study timeframe were recorded, with a modest decline of these cases from 35 in 2016 to 21 in 2021. Of the 160 cases, 150 were available for assessment. The parents of 50 patients (33.3%) did premarital screening: 43 were identified to be at risk, but seven were missed. The parents of 100 patients (66.7%), however, did not do premarital screening. The most frequent reasons for not seeking prenatal diagnosis being unaware of availability/being too expensive (57.5%), or for religious/cultural beliefs (35.0%). Conclusions: The modest reduction in the numbers of newly diagnosed major hemoglobinopathies, should be viewed in context, but is below the ultimate aims of the program. There is a need to tackle the challenges posed by couples marrying despite risk, or before the program was initiated, as well as the availability, religious, and legal aspects of prenatal diagnosis and termination of affected pregnancies to ensure a more favorable outcome of the program.