Review Article
Volume: 3 | Issue: 2 | Published: Sep 19, 2020 | Pages: 94 - 99 | DOI: 10.24911/JBCGenetics/183-1595487640
Prevention of hemoglobinopathies in Saudi Arabia: efficacy of national premarital screening and the feasibility of preimplantation genetic diagnosis
Authors: Muhammad Umair , Majid Alfadhel
Article Info
Authors
Muhammad Umair
Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia
Majid Alfadhel
Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia
Publication History
Received: July 23, 2020
Revised: August 19, 2020
Accepted: September 06, 2020
Published: September 19, 2020
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.
Keywords: Hemoglobinopathies, sickle cell, α-thalassemia, newborn population screening, β-thalassemia
