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[血友病——过去与现在]

[Haemophilia--then and now].

作者信息

Nilsson I M

机构信息

Avd. för koagulationssjukdomar, Universitetssjukhuset, Malmö, Sweden.

出版信息

Sydsven Medicinhist Sallsk Arsskr. 1994;31:33-52.

Abstract

Haemophilia is a bleeding disorder which has always attracted wide interest both among physicians and the laity--uncontrollable haemorrhage, blood that fails to coagulate and heredity with only males affected. The disease is probably best known to the public through its appearance in European royal families and in the Russian Imperial family. The oldest known description of haemophilia is to be found in the Talmud, the collection of ancient Judaic books from the early centuries of our era. The first clinical account of haemophilia was published by the American, Otto, in 1803. He described the disease as an inheritable bleeding disorder occurring only in males, and transmitted by female carriers who are not themselves affected. The disease manifests itself in early childhood, joint bleedings being its most characteristic feature. Otto called the male patients "bleeders". The term, haemophilia, originated with a German, Friedrich Hopff (1828), who coined the name "haemorrhaphilia" which was later abbreviated to haemophilia. ... As to future prospects, it is hoped that it will soon be possible to cure the disease by means of gene therapy, and to this end promising experimental work is already in progress.

摘要

血友病是一种出血性疾病,一直吸引着医生和普通大众的广泛关注——出血无法控制、血液不能凝固且具有遗传性,仅男性患病。公众可能最因该病在欧洲王室和俄罗斯皇室中出现而熟知它。已知对血友病最古老的描述见于《塔木德》,这是公元最初几个世纪的古代犹太书籍合集。血友病的首个临床报告由美国人奥托于1803年发表。他将该病描述为一种仅发生于男性的遗传性出血性疾病,由自身未患病的女性携带者传播。该病在儿童早期出现症状,关节出血是其最典型的特征。奥托称男性患者为“出血者”。“血友病”一词源于德国人弗里德里希·霍普夫(1828年),他创造了“出血癖”这个名称,后来缩写为血友病。……至于未来前景,人们希望很快能够通过基因疗法治愈该病,为此,有前景的实验工作已经在进行中。

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