Oculocutaneous albinism in southern Africa: Historical background, genetic, clinical and psychosocial issues
African Journal of Disability
;
11: 1-7, 2022. Tables
Artigo
em Inglês
| AIM
| ID: biblio-1397079
ABSTRACT
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 programs 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 marginalization and stigmatization of people with albinism and to improve their quality of life.
Texto completo:
DisponíveL
Índice:
AIM (África)
Assunto principal:
Psicologia
/
Deficiências do Desenvolvimento
/
Albinismo
/
Saúde
/
Albinismo Oculocutâneo
Tipo de estudo:
Guia de Prática Clínica
/
Estudo prognóstico
Idioma:
Inglês
Revista:
African Journal of Disability
Ano de publicação:
2022
Tipo de documento:
Artigo
Instituição/País de afiliação:
Department of Human Genetics, Faculty of Health Sciences, University of the Witwatersrand and National Health Laboratory Service, Johannesburg, South Africa/ZA
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