The thalassemias are the commonest genetic disorders in humans and present an increasing public health problem in the tropical countries in which they occur at a high frequency.

Keywords: thalassemia; hemoglobin; anemia; malaria; molecular pathology

Figure 1.

Human globin gene clusters on chromosomes 16 and 11. The different genes that are activated at various stages of development, together with the hemoglobins that are produced, are shown. The locus control region (LCR) and HS‐40 are the major ‘master’ regulatory regions for the two clusters.

Figure 2.

World distribution of the thalassemias.


Further Reading

Cao A and Rosatelli MC (1993) Screening and prenatal diagnosis of the haemoglobinopathies. Clinical Haematology 6: 263–286.

Olivieri NF, Nathan DG, MacMillan JH, et al. (1994) Survival of medically treated patients with homozygous β thalassemia. New England Journal of Medicine 331: 574–578.

Weatherall DJ (2001) The thalassemias. In: Stamatoyannopoulos G, Perlmutter RM, Majerus PW and Varmus H (eds.) Molecular Basis of Blood Diseases, 3rd edn, pp. 183–227. Philadelphia, PA: WB Saunders

Weatherall DJ (2001) Phenotype–genotype relationships in monogenic disease: lessons from the thalassaemias. Nature Reviews 2: 245–255.

Weatherall DJ and Clegg JB (1996) Thalassaemia: a global public health problem. Nature Medicine 2: 847–849.

Weatherall DJ and Clegg JB (2001) The Thalassaemia Syndromes, 4th edn Oxford, UK: Blackwell Scientific Publications.

Weatherall DJ and Clegg JB (2001) Inherited hemoglobin disorders: an increasing global health problem. Bulletin of the World Health Organization 79: 704–711.

Weatherall DJ, Clegg JB, Higgs DR and Wood WG (2001) The hemoglobinopathies. In: Scriver CR, Beaudet AL, Sly WS, et al. (eds.) The Metabolic and Molecular Bases of Inherited Disease, 8th ed., pp. 4571–4632. New York, NY: McGraw‐Hill

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Weatherall, David(Jan 2006) Thalassemias. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1038/npg.els.0005536]