Continuing Medical Education

Thalassaemia (part 1)

N A Alli, M Patel, J Pool, Y Goga, A Krause

Abstract


The thalassaemias are a group of inherited blood disorders characterised by decreased or absent globin chain synthesis. Classification of thalassaemia is based on the type of globin chain that is deficient. There are four globin chain subtypes, viz. α, β, γ and δ; deficiencies of these are designated as α-, β-, γ- or δ-thalassaemia, respectively. As genetic defects or deletions may affect one or more globin genes, a variety of clinical phenotypes may be encountered. Heterozygotes (thalassaemia carriers) enjoy partial protection against malaria, with consequential survival advantage. This explains the unexpectedly high gene frequencies found in malaria-endemic areas. South Africa is not a malaria-endemic area, and therefore has a predictably low prevalence of thalassaemia and other inherited Hb disorders. However, because of migration, these conditions are increasingly encountered in countries not endemic to malaria. In this issue (part 1 of the 2-part CME series), discussion is centred around epidemiology, pathophysiology, clinical features and diagnosis. Management is discussed in the next issue (part 2).


Authors' affiliations

N A Alli, Department of Molecular Medicine and Haematology, Faculty of Health Sciences, University of the Witwatersrand and National Health Laboratory Service, Johannesburg, South Africa

M Patel, Clinical Haematology Unit, Department of Medicine, Chris Hani Baragwanath Academic Hospital and Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa

J Pool, Department of Paediatrics and Child Health, Faculty of Health Sciences, University of the Witwatersrand and Charlotte Maxeke Academic Hospital, Johannesburg, South Africa

Y Goga, Inkosi Albert Luthuli Central Hospital, and Department of Paediatrics and Child Health, Nelson R Mandela School of Medicine, University of KwaZulu-Natal, Durban, South Africa

A Krause, Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa

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Keywords

Thalassaemia major; Thalassaemia intermedia; Thalassaemia minor; Malaria; Prenatal diagnosis; Pre-implantation genetic testing

Cite this article

South African Medical Journal 2021;111(6):529-534. DOI:10.7196/SAMJ.2021.v111i6.15724

Article History

Date submitted: 2021-05-31
Date published: 2021-05-31

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