Global distribution of β-thalassemia mutations: An update

Area of Science:

• Genetics
• Hematology
• Molecular Biology

Background:

• Beta-thalassemia exhibits a wide spectrum of clinical severity, from transfusion-dependent anemia to asymptomatic states.
• The genetic underpinnings and factors influencing disease severity in beta-thalassemia have been extensively studied.
• Over 350 mutations are known to cause genetic diseases, with specific mutations dominating globally due to geographic clustering.

Purpose of the Study:

• To review and collate beta-globin gene mutations across various countries and populations.
• To provide a comprehensive overview of the global distribution of beta-thalassemia mutations.
• To understand the impact of population migration on the changing spectrum of thalassemia mutations.

Main Methods:

• Literature review and data collation.
• Analysis of reported beta-globin gene mutations from diverse geographical regions.
• Synthesis of information on mutation prevalence and distribution.

Main Results:

• A limited number of beta-thalassemia mutations (around 20) account for over 80% of global cases.
• Geographic clustering results in distinct common and rare mutations within specific populations.
• Population migration is leading to a dynamic shift in the global mutation landscape.

Conclusions:

• The phenotypic variability of beta-thalassemia is directly linked to specific genetic mutations.
• Understanding the geographical distribution and evolution of these mutations is crucial for managing the disease.
• This review consolidates global mutation data, offering insights into thalassemia epidemiology and genetic diversity.