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一个大家族中的遗传性因子VII和IX缺乏症

Hereditary factor VII and IX deficiencies in a large kindred.

作者信息

Hall C A, London A R, Moynihan A C, Dodds W J

出版信息

Br J Haematol. 1975 Feb;29(2):319-28. doi: 10.1111/j.1365-2141.1975.tb01826.x.

DOI:10.1111/j.1365-2141.1975.tb01826.x
PMID:1191552
Abstract

A large kindred with combined deficiencies of factors VII and IX is presented. The deficiencies appeared to be independent and the data were not consistent with a diagnosis of haemophilia BM. The identification of mildly affected family members, including carriers of haemophilia B and heterozygotes for factor-VII deficiency, was facilitated by comparison with the 95% confidence interval of an age- and sex-matched control population. The bleeding patterns were those of mild to moderate haemophilia B and did not appear to have been modified by the presence of factor-VII deficiency.

摘要

本文报道了一个患有因子 VII 和因子 IX 联合缺乏症的大家族。这些缺乏症似乎是独立存在的,且数据与血友病 B M 型的诊断不符。通过与年龄和性别匹配的对照人群的 95% 置信区间进行比较,有助于识别轻度受影响的家庭成员,包括血友病 B 的携带者和因子 VII 缺乏症的杂合子。出血模式为轻度至中度血友病 B,且似乎未因因子 VII 缺乏症的存在而改变。

相似文献

1
Hereditary factor VII and IX deficiencies in a large kindred.一个大家族中的遗传性因子VII和IX缺乏症
Br J Haematol. 1975 Feb;29(2):319-28. doi: 10.1111/j.1365-2141.1975.tb01826.x.
2
Dilution curve studies in prothrombin complex factors deficiencies and abnormalities.
Blut. 1974 Aug;29(2):134-43. doi: 10.1007/BF01633837.
3
An investigation of three patients with Christmas disease due to an abnormal type of factor IX.对三名因异常类型的凝血因子IX导致患克里斯马斯病的患者进行的调查。
J Clin Pathol. 1968 Mar;21(2):160-5. doi: 10.1136/jcp.21.2.160.
4
A novel congenital haemostatic defect: combined factor VII and factor XI deficiency.一种新型先天性止血缺陷:联合因子VII和因子XI缺乏症。
Blood Coagul Fibrinolysis. 1992 Aug;3(4):357-60.
5
[Congenital lack of factor VII (author's transl)].
Klin Padiatr. 1974 Jan;186(1):29-33.
6
Factor VII activity and antigen in haemophilia B variants.B型血友病变异体中的凝血因子VII活性与抗原
Thromb Haemost. 1980 Feb 29;43(1):16-9.
7
Thromboembolism in congenital factor VII deficiency.先天性因子VII缺乏症中的血栓栓塞
Acta Haematol. 1984;71(1):60-2. doi: 10.1159/000206513.
8
Hemophilia B with associated factor VII deficiency: a distinct variant of hemophilia B with low factor VII activity and normal factor VII antigen.伴有因子VII缺乏的B型血友病:一种具有低因子VII活性和正常因子VII抗原的B型血友病独特变体。
Blut. 1980 Apr;40(4):267-73. doi: 10.1007/BF01080186.
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Congenital deficiency of factor VII in subarachnoid hemorrhage.
Stroke. 1994 Feb;25(2):508-10. doi: 10.1161/01.str.25.2.508.
10
Carriers of factor VII deficiency are not always asymptomatic.
Clin Lab Haematol. 1984;6(4):363-8. doi: 10.1111/j.1365-2257.1984.tb00563.x.

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One Health: Animal Models of Heritable Human Bleeding Diseases.同一健康:遗传性人类出血性疾病的动物模型
Animals (Basel). 2022 Dec 26;13(1):87. doi: 10.3390/ani13010087.
2
Studies on a family with combined functional deficiencies of vitamin K-dependent coagulation factors.维生素K依赖凝血因子联合功能缺陷的一个家族的研究
J Clin Invest. 1982 Jun;69(6):1253-60. doi: 10.1172/jci110564.