Prevalence of Hemoglobinopathies in Premarital Screening Program in the Jazan Region: A multicenter study

Abstract

Background: Hemoglobinopathies are among the most common monogenic disorders worldwide, causing significant public health challenges, particularly in regions with high consanguinity rates. In Saudi Arabia's Jazan region, the prevalence of hemoglobinopathies necessitates targeted preventive strategies such as the premarital screening (PMS) program. Objective: This study aimed to evaluate the prevalence and types of haemoglobinopathies among individuals undergoing PMS across three centers in the Jazan region and report the value of hemoglobin electrophoresis and complete blood count among conditions in the PMS in the Jazan region. Methods: A retrospective cross-sectional study was conducted between 2023 and 2025, including 5,113 individuals screened at Sabya, Abu-Arish, and Baish PMS centers. Data collection encompassed demographic details, complete blood count (CBC) results, and hemoglobin electrophoresis profiles. Results: Out of the total participants, 38.04% were diagnosed with hemoglobin disorders, while 61.96% had normal profiles. Sickle cell trait (12.07%) and sickle cell disease (1.23%) were the most prevalent abnormalities, followed by β-thalassemia trait (1.49%) and β-thalassemia major (1.33%). Females had a higher prevalence of hemoglobinopathies than males. Hematological indices demonstrated significant variation among different haemoglobinopathy groups, particularly in RBC count, hemoglobin concentration, MCV, MCH, and RDW levels. Conclusion: The findings underscore the high burden of hemoglobinopathies in the Jazan region and highlight the critical role of the PMS program in the early detection and prevention of at-risk marriages. Strengthening genetic counselling and community awareness efforts is essential to mitigate hemoglobinopathies' health and social impacts. It is recommended for further, large-scale, prospective studies to monitor trends and enhance preventive strategies.