Department of Paediatric and Child Health, Faculty of Health Sciences, Nelson R Mandela School of Medicine, University of KwaZulu-Natal, Durban.
S Afr Med J. 2011 Jun 27;101(7):481-4.
To determine the range of genetic disorders in the Indian population of South Africa, assess relevant historical and demographical factors, and discuss the implications for medical and genetic care.
WSW reviewed the archived data pertaining to patients seen in his paediatric practice in Durban during the past 45 years. Likewise, PB reviewed case details of persons encountered since 1972 in Cape Town, at outreach clinics, and in special institutions for the handicapped throughout South Africa. Additional information was accessed through the Cape Genetic Heritage archive.
In addition to the common ubiquitous worldwide genetic disorders, several rare heritable conditions are present in the Indian community of South Africa. These disorders are the consequence of the founder effect and reflect the biological heritage of the early immigrants. Demographic factors (notably endogamy) are also relevant in this respect. As a result of these processes, thalassaemia is by far the most common and important genetic disorder in the Indian population in the country.
Awareness of the presence of specific genetic conditions in the Indian community of South Africa is important in the diagnostic process. In turn, diagnostic precision facilitates accurate prognostication and optimal medical and genetic management.
确定南非印度人群中的遗传疾病范围，评估相关历史和人口统计学因素，并讨论其对医疗和遗传护理的影响。
WSW 回顾了他在过去 45 年在德班儿科诊所就诊的患者的存档数据。同样，PB 回顾了自 1972 年以来在开普敦、外展诊所以及南非各地残疾特殊机构遇到的人的病例详细信息。通过 Cape Genetic Heritage 档案获取了其他信息。
除了常见的全球普遍存在的遗传疾病外，南非印度人群中还存在几种罕见的遗传性疾病。这些疾病是奠基者效应的结果，反映了早期移民的生物遗传。人口统计学因素（特别是同宗婚姻）在这方面也很重要。由于这些过程，在该国的印度人群中，地中海贫血症是迄今为止最常见和最重要的遗传疾病。
了解南非印度人群中特定遗传疾病的存在对诊断过程很重要。反过来，诊断的准确性有助于准确预测和优化医疗和遗传管理。
