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一个大家族中因子VIII复合物遗传模式的变异:A型血友病与血管性血友病的共存。

Variations in the hereditary patterns of factor VIII complex in a large kindred: coexistence of hemophilia A with Von Willebrand.

作者信息

Tavori S, Tatarsky I

出版信息

Am J Hematol. 1984 Jul;17(1):1-9. doi: 10.1002/ajh.2830170102.

DOI:10.1002/ajh.2830170102
PMID:6430067
Abstract

Coagulation studies and clinical observations were carried out in 47 members belonging to three generations in one kindred. Classical Hemophilia A, Von Willebrand (VWD) variants, and normal individuals were revealed in this study. The coexistence of Hemophilia A and VWD in different siblings of the same progenitors indicates the difficulty to distinguish between these two major factor VIII abnormalities as two different traits. A hypothesis based on these findings is elaborated.

摘要

对一个家族三代中的47名成员进行了凝血研究和临床观察。本研究发现了典型的甲型血友病、血管性血友病(VWD)变异型和正常个体。同一祖先的不同兄弟姐妹中同时存在甲型血友病和VWD,这表明难以将这两种主要的凝血因子VIII异常区分为两种不同的性状。基于这些发现阐述了一个假说。

相似文献

1
Variations in the hereditary patterns of factor VIII complex in a large kindred: coexistence of hemophilia A with Von Willebrand.一个大家族中因子VIII复合物遗传模式的变异:A型血友病与血管性血友病的共存。
Am J Hematol. 1984 Jul;17(1):1-9. doi: 10.1002/ajh.2830170102.
2
Combined hemophilia A and type 2 von Willebrand's disease: defect of both factor VIII level and factor VIII binding capacity of von Willebrand factor.甲型血友病合并2型血管性血友病:VIII因子水平及血管性血友病因子的VIII因子结合能力均有缺陷。
Haematologica. 2001 Oct;86(10):1110-1.
3
[Importance of the study of the binding of factor VIII to von Willebrand factor in hemophilia A].[研究血友病A中凝血因子VIII与血管性血友病因子结合的重要性]
Sangre (Barc). 1992 Jun;37(3):211-24.
4
von Willebrand disease masquerading as haemophilia A.伪装成甲型血友病的血管性血友病
Thromb Haemost. 1992 Apr 2;67(4):391-6.
5
Concurrence of von Willebrand's disease and hemophilia A: implications for carrier detection and prevalence.血管性血友病与甲型血友病的并发:对携带者检测及患病率的影响
Am J Med Genet. 1986 May;24(1):83-94. doi: 10.1002/ajmg.1320240110.
6
Coexistence of haemophilia A and von Willebrand's disease in the same kindred.
Scand J Haematol. 1978 May;20(5):423-8. doi: 10.1111/j.1600-0609.1978.tb02478.x.
7
Simultaneous inheritance and expression of classical haemophilia A and type IIA von Willebrand's disease.经典型血友病A与IIA型血管性血友病的同时遗传与表达。
J Clin Pathol. 1984 Sep;37(9):1035-9. doi: 10.1136/jcp.37.9.1035.
8
A variant of von Willebrand's disease with abnormal expression of factor VIII procoagulant activity.一种血管性血友病的变体,伴有凝血因子VIII促凝活性表达异常。
Blood. 1982 Jul;60(1):201-7.
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Something new about type Normandy von Willebrand disease (type 2N VWD)?关于诺曼底型血管性血友病(2N型VWD)有什么新情况吗?
Thromb Haemost. 2004 Jul;92(1):1-2. doi: 10.1160/TH04-05-0292.
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An inhibitor to factor VIII:C in a patient with possible combined haemophilia A and von Willebrand's disease.一名可能同时患有甲型血友病和血管性血友病患者体内的凝血因子VIII:C抑制剂。
Thromb Haemost. 1986 Apr 30;55(2):158-61.

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