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因因子 VII 缺乏杂合子与甲型血友病偶然关联导致的联合因子 VII 和因子 VIII 缺乏。

Combined factor VII and factor VIII deficiency due to a casual association of heterozygosis for factor VII deficiency and hemophilia A.

作者信息

Girolami A, Dal Bo Zanon R, Fabris F, Franzoso R

出版信息

Acta Haematol. 1977;58(4):246-54. doi: 10.1159/000207835.

Abstract

A patient with combined factor VII and factor VIII deficiency is discussed. The propositus is a 21-year-old male who presented a mild bleeding tendency. The patient appears to be a hemophilia and at the same time heterozygote for factor VII deficiency. This conclusion is based on the fact that heterozygosis for factor VII deficiency was present in the father and in other relatives of the paternal side. On the contrary, no factor VII deficiency was present in the maternal side of the family. However, the maternal grandfather was known to have been a bleeder and the propositus' mother, his sister and his aunt had low-normal factor VIII levels and were probably hemophilia A carriers. This type of combined factor VII and factor VIII deficiency appears to be due to the casual association of two independently segregating defects.

摘要

讨论了一名患有Ⅶ因子和Ⅷ因子联合缺乏症的患者。先证者是一名21岁男性,有轻度出血倾向。该患者似乎患有血友病,同时又是Ⅶ因子缺乏的杂合子。这一结论基于以下事实:父亲及父系其他亲属存在Ⅶ因子缺乏的杂合性。相反,家族母系中不存在Ⅶ因子缺乏。然而,已知外祖父有出血症状,先证者的母亲、妹妹和阿姨的Ⅷ因子水平略低于正常,可能是甲型血友病携带者。这种Ⅶ因子和Ⅷ因子联合缺乏症似乎是由于两个独立分离缺陷的偶然关联所致。

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