Background: Haemoglobinopathies are the most inherited disorders worldwide including Saudi Arabia which can be preventable with application of screening programmers. Ministry of Health in Saudi Arabia had initiated premarital screening program (PMS) in all country regions.
Methods: The aim of this study was to explore the impact of the PMS program and genetic counseling on couples at risk for thalassaemia and sickle cell anima in an area of the country with high hemoglobinopathy prevalence. A total of 129 candidates identified by PMS to be at risk were included.
Results: Out of this cohort, 98% proceeded with marriage. Culture pressure was the main reason in more than 48%. Over a period of 4 years, these marriages resulted in 15 diseased children. Although most of the candidates did not receive genetic counseling yet, the concept of genetic counseling was liked by most of them.
Conclusion: This study showed some early benefits of the PMS in prevention of the targeted diseases and the program helped in early detection of the disease in their offspring.