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Prevention of hemoglobinopathies in Saudi Arabia: efficacy of national premarital screening and the feasibility of preimplantation genetic diagnosis

Muhammad Umair, Majid Alfadhel.




Abstract

Hemoglobinopathies constitute the most frequent, inherited single-gene disorders. Its prevalence is increasing substantially and might cause a substantial economic burden on affected families and countries. The current study findings recommend population screening strategies to be implemented for severe disorders such as sickle-cell disease, hemoglobin E disease, α- and β-thalassemia, and normal individuals to identify the carrier status and manage the disease pathogenesis. In addition, national registries should highlight the information and contribute to the proper management and care of patients suffering from hemoglobinopathy. Furthermore, the Saudi Government should provide a conceptual framework to determine the specific preventive strategies to manage the incidence of hemoglobinopathies effectively.

Key words: Hemoglobinopathies, sickle cell, α-thalassemia, newborn population screening, β-thalassemia






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