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Characterization of Heterogeneity of Haemophilia B for the Detection of Carriers

 

作者: F. Panicucci,   A. Sagripanti,   B. Conte,   E. Pinori,   M. Vispi,   L. Lecchini,  

 

期刊: Pathophysiology of Haemostasis and Thrombosis  (Karger Available online 1980)
卷期: Volume 9, issue 5  

页码: 310-318

 

ISSN:1424-8832

 

年代: 1980

 

DOI:10.1159/000214370

 

出版商: S. Karger AG

 

关键词: Factor IX activity;Factor IX antigen;Prothrombin time;Haemophilia B-;Haemophilia B+;Haemophilia BM

 

数据来源: Karger

 

摘要:

Factor IX activity (IX:C) and antigen (IX:Ag) as well as factor VII, prothrombin time, Normotest and Thrombotest were determined in 37 haemophiüacs B from 26 kindreds, in 30 carriers of haemophilia B and in 40 healthy subjects. In 15 obligatory carriers from 9 kindreds, in which haemophiliacs did not exhibit IX:Ag in excess of IX:C, IX:C was parallel with IX:Ag, but in 4 from 4 kindreds, in which haemophiliacs exhibit excess of IX:Ag, there was a discrepancy between IX:C and IX:Ag. Among the obligatory carriers 6 from 3 kindreds, in which haemophiliacs did not have IX:Ag in excess of IX:C, showed that the anomaly M is not a sign of genetic variability of haemophilia B

 

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