Oculocutaneous albinism in southern Africa: Historical background, genetic, clinical and psychosocial issues

African Journal of Disability

Field Value
Title Oculocutaneous albinism in southern Africa: Historical background, genetic, clinical and psychosocial issues
Creator Kromberg, Jennifer G.R. Kerr, Robyn
Subject General practice; rural health; primary health care; education; counselling albinism and Africa; clinical management; culture; disability; epidemiology; genetics; genetic counselling; health; oculocutaneous albinism; psychosocial issues.
Description Albinism is an inherited condition associated with significant depigmentation of the skin, hair and eyes. It occurs in every population with varying frequency, and narratives of people with albinism have been recorded since 200 BC. In southern Africa albinism is common, about 1 in 4000 people are affected, but it remains a poorly understood condition surrounded by myths and superstition. This article provides a historical background on oculocutaneous albinism (OCA) in southern Africa and presents relevant information from the literature regarding epidemiology, genetics and genetic counselling, health, psychosocial and cultural issues, and medical care. There are several recessively inherited types of OCA and a mutation, responsible for about 80% of South African variants, has been identified in OCA type 2. The physical characteristics associated with albinism, that is, sun-sensitive skin and low vision, can be managed. However, people with OCA in Africa also experience psychosocial issues, such as discrimination, because of the various superstitious beliefs and attitudes held in the community. Management should include medical care for health problems, appropriate adjustment of the schooling context and genetic counseling. In addition, widespread public awareness programmes are required to increase the knowledge of the genetic causes of OCA and of the nature of genetic counselling, to address the negative attitudes in the community, to reduce the marginalisation and stigmatization of people with albinism and to improve their quality of life.
Publisher AOSIS
Contributor University of the Witwatersrand National Health Laboratory Service
Date 2022-10-14
Type info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion — Review
Format text/html application/epub+zip text/xml application/pdf
Identifier 10.4102/ajod.v11i0.877
Source African Journal of Disability; Vol 11 (2022); 7 pages 2226-7220 2223-9170
Language eng
The following web links (URLs) may trigger a file download or direct you to an alternative webpage to gain access to a publication file format of the published article:

https://ajod.org/index.php/ajod/article/view/877/1984 https://ajod.org/index.php/ajod/article/view/877/1985 https://ajod.org/index.php/ajod/article/view/877/1986 https://ajod.org/index.php/ajod/article/view/877/1987
Coverage Africa; Southern Africa; South Africa 200BC - 2020 Black African; all ages and genders
Rights Copyright (c) 2022 Jennifer Grace Kromberg, Robyn Ann Kerr https://creativecommons.org/licenses/by/4.0