Eickhoff S, Beighton P
S Afr Med J. 1985 Sep 28;68(7):475-8.
The island of St Helena lies in the South Atlantic ocean and is isolated by distance from any land mass and by lack of a harbour or airfield. In these circumstances there could be an unusual pattern of inherited disease, and for this reason we have attempted to document the presence and frequency of genetic conditions in the population, which numbers approximately 5 500. Genetic disorders identified included autosomal dominant genu valgum, hereditary angioneurotic oedema, Christmas disease and pseudo-achondroplasia. The presence of the autosomal recessive form of retinitis pigmentosa provides a possible explanation for the occurrence of that condition in the islanders of Tristan da Cunha, since they have ancestral links with the St Helena community. The recognition of these genetic disorders in this isolated population has practical implications in terms of clinical management and the provision of medical services.
圣赫勒拿岛位于南大西洋，因距离任何大陆板块遥远，且缺乏港口或机场而与世隔绝。在这种情况下，可能会出现不同寻常的遗传疾病模式，因此我们试图记录该岛约5500人口中遗传疾病的存在情况和发病频率。已确定的遗传疾病包括常染色体显性膝外翻、遗传性血管神经性水肿、克里斯马斯病和假性软骨发育不全。视网膜色素变性常染色体隐性形式的存在，为特里斯坦 - 达库尼亚群岛岛民出现这种疾病提供了一种可能的解释，因为他们与圣赫勒拿岛社区有祖先联系。在这个与世隔绝的人群中识别出这些遗传疾病，对于临床管理和医疗服务的提供具有实际意义。
