A laboratory study of the carrier state in classic hemophilia.
A laboratory study of the carrier state in classic hemophilia.
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经典血友病携带者状态的实验室研究。
DOI：
10.1172/jci103387
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发表时间：
1956
期刊：
影响因子：
--
通讯作者：
O. Ratnoff
中科院分区：
文献类型：
--
作者：
A. Margolius;O. Ratnoff
多年来，人们已经认识到，现在被称为血友病的出血性疾病是一种遗传性疾病，男性只通过女性传播给他们。从社会学和医学的角度来看，发现那些携带导致这种疾病的遗传缺陷的女性是很重要的。从遗传学的角度来看，有三种个体可以被认为是携带者，第一，一个血友病患者的所有女儿，第二，两个或两个以上血友病患者的母亲，第三，一个血友病患者的母亲，如果她有其他血友病亲属。血友病患者的其他女性亲属是否为导体，这一问题在遗传学假说的基础上无法得到解答。已发表的关于这一问题的研究报告数量众多且相互矛盾。女性携带者通常无症状，这是共识，但对于她们的血液是否在实验室检测到异常，存在相当大的意见分歧。直到最近几年，血友病综合征才与圣诞节病（血浆凝血活素成分缺乏）区分开来。可能，关于携带者检测的相互矛盾的意见部分是由于将血友病与圣诞节病或其他出血性疾病混淆。本报告涉及通过实验室技术检测经典血友病携带者状态的尝试。在19名推定携带者和8名可能携带者中，只有1例在血浆中检测到异常低浓度的抗血友病因子。
For many years it has been recognized that the hemorrhagic disorder now known as hemophilia is a hereditary disease of males transmitted to them only through females. From both the sociologic and medical points of view it would be important to detect those females who are conductors of the genetic defect responsible for this disease. On genetic grounds three groups of individuals can be assumed to be carriers, firstly, all daughters of a hemophiliac, secondly, the mother of two or more hemophiliacs, and thirdly, the mother of a single hemophiliac when she has other hemophilic relatives. The problem which cannot be answered on the basis of genetic hypothesis is which other female relatives of a hemophiliac are conductors. The published reports of studies of this problem are numerous and contradictory. It is the consensus that female carriers are usually asymptomatic, but there is considerable difference of opinion as to whether their blood has abnormalities detectable in the laboratory. It has only been within the last few years that the syndrome of hemophilia has been differentiated from Christmas disease (deficiency of plasma thromboplastin component). Possibly, the conflicting opinions concerning the detection of carriers have been due in part to the confusion of hemophilia with Christmas disease or with other hemorrhagic disorders. The present report concerns attempts to detect the carrier state in classic hemophilia by laboratory techniques. Among 19 presumptive and 8 possible carriers, an abnormally low concentration of antihemophilic factor was detectable in the plasma in only one instance.