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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