Oculocutaneous albinism in a rural community of South Africa: A population genetic study

Abstract

Oculocutaneous albinism type II (OCA2), the most common form of albinism worldwide, is prevalent throughout sub-Saharan Africa. The hypopigmentory phenotype distinguishes affected individuals as 'different' in a black population, resulting in problems of social acceptance and integration. Health issues include constant, lifelong sun-induced skin damage and poor vision. This study determined the frequency and distribution of albinism among the Vhavenda ethnic group living in the relatively low-income north of South Africa in a clan-oriented society. A retrospective study of birth records from regional hospitals gave an incidence of OCA of 1 in 1970, whereas a survey of mainstream schools gave a frequency of only one pupil with albinism in 13,319 as most affected children attended the regional special school. A community-based field study of 35 rural villages gave a prevalence of 1 in 2239 for OCA. One clan, the Vhatavhatsindi, had a significantly higher frequency of 1 in 832. This epidemiological study provides the necessary data for developing health care and welfare system for families affected by albinism in this region.

Oculocutaneous albinism: an African perspective

“…In Tanzania, the OCA population is estimated at 31 345 (1 in 1429 people), which is nearly 8.5 times the UK OCA population. 9 Zimbabwe has an OCA population similar to the UK, estimated at 3050 (1 in 4000-5000 people), but its total population is a quarter of the UK's. 9 In South Africa's Venda region the incidence is 1 in 1970; two clans with the same number of individuals with OCA have an incidence of 1 in 825 people in the Vhatavhatsindi clan but 1 in 3107 people in the Vhalaudzi clan.…”

“…9 Zimbabwe has an OCA population similar to the UK, estimated at 3050 (1 in 4000-5000 people), but its total population is a quarter of the UK's. 9 In South Africa's Venda region the incidence is 1 in 1970; two clans with the same number of individuals with OCA have an incidence of 1 in 825 people in the Vhatavhatsindi clan but 1 in 3107 people in the Vhalaudzi clan. 9 The higher incidence in the Vhatavhatsindi clan is attributed to them living in a relatively isolated and inaccessible area with a restricted gene pool, which leads to a high level of intra-community breeding.…”

“…9 In South Africa's Venda region the incidence is 1 in 1970; two clans with the same number of individuals with OCA have an incidence of 1 in 825 people in the Vhatavhatsindi clan but 1 in 3107 people in the Vhalaudzi clan. 9 The higher incidence in the Vhatavhatsindi clan is attributed to them living in a relatively isolated and inaccessible area with a restricted gene pool, which leads to a high level of intra-community breeding. 9 In comparison with Western countries, OCA in Africa has significant health consequences.…”

The Epidemiology of Cutaneous Melanoma in the White and Black African Population Groups in South Africa

“…In South Africa, the commonest type in the Black African population is OCA2 in which the skin color is creamy white with yellow and/or light brown hair. The estimated prevalence of OCA2 in South Africa is 1 per 3900 but is considerably higher than this in some tribes (43). While people with OCA have a greatly increased susceptibility to nonmelanoma skin cancers (NMSC: squamous and basal cell carcinomas), most developing by age 20-30 years, they rarely present with CM.…”

Pigmentation and vision: Is GPR143 in control?

“…OCA is inherited in an autosomal recessive manner, and due to founder effects, is not manifested evenly throughout the human population. Rather, isolated populations can vary dramatically in the form and incidence of OCA (Braathen & Ingstad, 2006;Cruz-Inigo, Ladizinski, & Sethi, 2011;Hedrick, 2003;Hong, Zeeb, & Repacholi, 2006;Lund, Maluleke, Gaigher, & Gaigher, 2007;M artinez-García & Montoliu, 2013). OCA to a varied extent affects all pigmented tissues, skin, hair, iris, and retina.…”