Global distribution of β-thalassemia mutations: An update

Abstract

One excellent illustration of how a single gene abnormality may result in a spectrum of disease incidence is the incredible phenotypic variety of β-thalassemia, which spans from severe anemia and transfusion needs to an utterly asymptomatic sickness. However, genetic causes of β-thalassemia and how the anemia's severity might be altered at various stages in its pathophysiology have been well investigated. There are currently known to be more than 350 mutations that cause genetic disease. However only 20 β thalassemia mutations account for more than 80% of the β thalassemia mutation across the globe due to phenomenon of geographical clustering where each population has a few common mutations together with a varying number of rare ones. Due to migration of the population, the spectrum of thalassemia mutation in changing from time to time. In this review, efforts are made to collate β globin gene mutations in different countries and populations.

Keywords: Distribution; Hemoglobin; Mutation; β-thalassemia.