Oculocutaneous albinism in southern Africa: Historical background, genetic, clinical and psychosocial issues
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 af...
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| Format: | Article |
| Language: | English |
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AOSIS
2022-10-01
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| Series: | African Journal of Disability |
| Subjects: | |
| Online Access: | https://ajod.org/index.php/ajod/article/view/877 |
| _version_ | 1811244500563001344 |
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| author | Jennifer G.R. Kromberg Robyn Kerr |
| author_facet | Jennifer G.R. Kromberg Robyn Kerr |
| author_sort | Jennifer G.R. Kromberg |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-04-12T14:26:09Z |
| format | Article |
| id | doaj.art-4c7db1b3953e481ab5c834ea35b188bc |
| institution | Directory Open Access Journal |
| issn | 2223-9170 2226-7220 |
| language | English |
| last_indexed | 2024-04-12T14:26:09Z |
| publishDate | 2022-10-01 |
| publisher | AOSIS |
| record_format | Article |
| series | African Journal of Disability |
| spelling | doaj.art-4c7db1b3953e481ab5c834ea35b188bc2022-12-22T03:29:26ZengAOSISAfrican Journal of Disability2223-91702226-72202022-10-01110e1e710.4102/ajod.v11i0.877306Oculocutaneous albinism in southern Africa: Historical background, genetic, clinical and psychosocial issuesJennifer G.R. Kromberg0Robyn Kerr1Department of Human Genetics, Faculty of Health Sciences, University of the Witwatersrand and National Health Laboratory Service, JohannesburgDepartment of Human Genetics, Faculty of Health Sciences, University of the Witwatersrand and National Health Laboratory Service, JohannesburgAlbinism 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.https://ajod.org/index.php/ajod/article/view/877albinism and africaclinical managementculturedisabilityepidemiologygeneticsgenetic counsellinghealthoculocutaneous albinismpsychosocial issues. |
| spellingShingle | Jennifer G.R. Kromberg Robyn Kerr Oculocutaneous albinism in southern Africa: Historical background, genetic, clinical and psychosocial issues African Journal of Disability albinism and africa clinical management culture disability epidemiology genetics genetic counselling health oculocutaneous albinism psychosocial issues. |
| title | Oculocutaneous albinism in southern Africa: Historical background, genetic, clinical and psychosocial issues |
| title_full | Oculocutaneous albinism in southern Africa: Historical background, genetic, clinical and psychosocial issues |
| title_fullStr | Oculocutaneous albinism in southern Africa: Historical background, genetic, clinical and psychosocial issues |
| title_full_unstemmed | Oculocutaneous albinism in southern Africa: Historical background, genetic, clinical and psychosocial issues |
| title_short | Oculocutaneous albinism in southern Africa: Historical background, genetic, clinical and psychosocial issues |
| title_sort | oculocutaneous albinism in southern africa historical background genetic clinical and psychosocial issues |
| topic | albinism and africa clinical management culture disability epidemiology genetics genetic counselling health oculocutaneous albinism psychosocial issues. |
| url | https://ajod.org/index.php/ajod/article/view/877 |
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