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).
Approximately 1.5% of the global population are heterozygous (carriers) for beta-thalassaemias (2) and the beta thalassaemias are particularly prevalent in the Mediterranean, the Middle East, India, Pakistan and surrounding areas, and the Far East (3). 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.
It is estimated that over 90% of children born with significant beta-thalassaemia syndromes are from Asia, India, and the Middle East, and a large number involve haemoglobin E mutations (4).
References:
2. De Sanctis V, Kattamis C, Canatan D, et al. β-Thalassemia Distribution in the Old World: an Ancient Disease Seen from a Historical Standpoint. Mediterr J Hematol Infect Dis. 2017;9(1)
3. Flint J, Harding RM, Boyce AJ, et al. The population genetics of the haemoglobinopathies. Baillieres Clin Haematol. 1993 Mar;6(1):215-62.
4. Colah R, Gorakshakar A, Nadkarni A. Global burden, distribution and prevention of beta-thalassemias and hemoglobin E disorders. Expert Rev Hematol. 2010 Feb;3(1):103-17.
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