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Haemophilia B carrier detection by factor IX:C analysis; no impact of the type of mutation or severity of disorder

Knobe, Karin LU and Ljung, Rolf LU (1999) In Haemophilia 5(4). p.238-242
Abstract
Haemophilia B, an X-linked recessive bleeding disorder characterized by lack or deficiency of factor IX, has been shown to be caused by any of a variety of DNA abnormalities (partial or total deletions, nonsense or missense mutations). Since in most countries carrier detection is based on factor IX coagulant activity (FIX:C) assay, this study was designed to determine whether carriers' FIX:C values are dependent on the severity of haemophilia (mild, moderate or severe) or on the genetic anomaly in the family. FIX:C concentrations were studied in 28 obligate carriers, 39 women known to carry the mutation and 33 verified noncarriers subgrouped by severity of disorder or genetic anomaly. No significant subgroup differences in FIX:C values... (More)
Haemophilia B, an X-linked recessive bleeding disorder characterized by lack or deficiency of factor IX, has been shown to be caused by any of a variety of DNA abnormalities (partial or total deletions, nonsense or missense mutations). Since in most countries carrier detection is based on factor IX coagulant activity (FIX:C) assay, this study was designed to determine whether carriers' FIX:C values are dependent on the severity of haemophilia (mild, moderate or severe) or on the genetic anomaly in the family. FIX:C concentrations were studied in 28 obligate carriers, 39 women known to carry the mutation and 33 verified noncarriers subgrouped by severity of disorder or genetic anomaly. No significant subgroup differences in FIX:C values were found, thus suggesting the level of FIX:C concentrations in carriers to be unaffected by the severity of haemophilia, or by its expression (i.e. deficient or dysfunctional factor IX). The specificity and sensitivity of FIX:C analysis for the purpose of carrier diagnosis was judged by receiver operating characteristic curve analysis, where an FIX:C cut-off level of 75 IU dL-1 was found to be optimal (sensitivity 93% and specificity 88%). (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
carrier detection, factor IX coagulant activity, factor IX, haemophilia B
in
Haemophilia
volume
5
issue
4
pages
238 - 242
publisher
Federation of European Neuroscience Societies and Blackwell Publishing Ltd
external identifiers
  • pmid:10469176
  • scopus:0032831133
ISSN
1351-8216
DOI
10.1046/j.1365-2516.1999.00331.x
language
English
LU publication?
yes
id
6540f780-e849-4367-a13e-127a460cab4a (old id 1115864)
date added to LUP
2008-07-08 15:08:15
date last changed
2017-11-05 03:39:25
@article{6540f780-e849-4367-a13e-127a460cab4a,
  abstract     = {Haemophilia B, an X-linked recessive bleeding disorder characterized by lack or deficiency of factor IX, has been shown to be caused by any of a variety of DNA abnormalities (partial or total deletions, nonsense or missense mutations). Since in most countries carrier detection is based on factor IX coagulant activity (FIX:C) assay, this study was designed to determine whether carriers' FIX:C values are dependent on the severity of haemophilia (mild, moderate or severe) or on the genetic anomaly in the family. FIX:C concentrations were studied in 28 obligate carriers, 39 women known to carry the mutation and 33 verified noncarriers subgrouped by severity of disorder or genetic anomaly. No significant subgroup differences in FIX:C values were found, thus suggesting the level of FIX:C concentrations in carriers to be unaffected by the severity of haemophilia, or by its expression (i.e. deficient or dysfunctional factor IX). The specificity and sensitivity of FIX:C analysis for the purpose of carrier diagnosis was judged by receiver operating characteristic curve analysis, where an FIX:C cut-off level of 75 IU dL-1 was found to be optimal (sensitivity 93% and specificity 88%).},
  author       = {Knobe, Karin and Ljung, Rolf},
  issn         = {1351-8216},
  keyword      = {carrier detection,factor IX coagulant activity,factor IX,haemophilia B},
  language     = {eng},
  number       = {4},
  pages        = {238--242},
  publisher    = {Federation of European Neuroscience Societies and Blackwell Publishing Ltd},
  series       = {Haemophilia},
  title        = {Haemophilia B carrier detection by factor IX:C analysis; no impact of the type of mutation or severity of disorder},
  url          = {http://dx.doi.org/10.1046/j.1365-2516.1999.00331.x},
  volume       = {5},
  year         = {1999},
}