beta thalassaemia

Last reviewed 06/2021

The beta thalassaemias are a group of diseases characterised by deficient synthesis of the beta-globin gene on chromosome 11.It is inherited as an Autosomal Recessive pattern (except for vary rare 'dominant thalassaemia' mutations) (1).

As a group they comprise the most common inherited disease in the world, affecting about 150 million people or 3% of the world population. The beta thalassaemias are particularly prevalent in the Meditteranean, the Middle East, India, Pakistan and surrounding areas, and the Far East (2). These populations are most affected because they originated in areas of the world where malaria was found and being a beta thalassaemia carrier provides slight protection against malaria.

The carrier incidence of beta thalassaemia in the UK amongst Asian communities is (3):

  • 1 in 7 to 1 in 10 for Gujeratis
  • 1 in 10 for Sindis
  • 1 in 20 for South Indians
  • 1 in 25 for Pakistanis
  • 1 in 15 to 1 in 30 for Punjabis and Bangladeshis

A national UK guideline re: screening has stated that there is a clinical significant prevalence of beta thalassaemia carriers in all ethnic groups other than Northern Europeans (3).

Reference:

Related pages:

epidemiology

haemoglobin synthesis during development

classification by clinical severity or phenotype

classification by molecular genetics or genotype

complications

Wernicke-Korsakoff syndrome

NHS screening programme for sickle cell and thalassaemia

diagram of inheritance pattern of an autosomal recessive condition e.g. Sickle Cell Disease, Thalassaemia, Cystic Fibrosis

diagram of parental carrier state combinations that give rise to the risk of a fetus with significant sickle cell disease or beta thalassaemia

pre-conceptual screening for haemoglobinopathies

NHS screening programme patient information leaflets for sickle cell disease and thalassaemia

acute presentations in treated beta thalassaemia patients