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Genetic counselling of haemophilia carriers

Ljung, Rolf LU and Tedgård, Ulf LU (2003) In Seminars in Thrombosis and Hemostasis 29(1). p.31-36
Abstract
Basic analysis of a potential carrier includes calculation of the probability, or odds, for carriership based on pedigree and clotting factor analysis. Genotype assessment constitutes a more accurate method of carrier detection. Where circumstances permit, the genetic diagnosis of hemophilia should be based on the direct identification of the pathogenic mutation in the factor (F) VIII gene. Neutral mutations in the FVIII gene and the risk of mosaicism (a mixture of normal and mutation carrying cells) in sporadic families may cause misclassification. If it is not possible to use the mutation for diagnostic purposes, it may be possible to use linked polymorphic markers (restriction fragment length polymorphisms [RFLP]) to trace the... (More)
Basic analysis of a potential carrier includes calculation of the probability, or odds, for carriership based on pedigree and clotting factor analysis. Genotype assessment constitutes a more accurate method of carrier detection. Where circumstances permit, the genetic diagnosis of hemophilia should be based on the direct identification of the pathogenic mutation in the factor (F) VIII gene. Neutral mutations in the FVIII gene and the risk of mosaicism (a mixture of normal and mutation carrying cells) in sporadic families may cause misclassification. If it is not possible to use the mutation for diagnostic purposes, it may be possible to use linked polymorphic markers (restriction fragment length polymorphisms [RFLP]) to trace the inheritance of the hemophilia gene within a pedigree. Linkage analysis is limited because of uninformative patterns of polymorphic markers, ethnic variation, linkage disequilibrium, and the need for participation of family members, and it is not useful in sporadic families, which constitute more than half of the hemophilia families. Potential carriers of hemophilia should be offered qualified assistance in genetic information, testing, and counseling to help them to cope with the psychological and ethical problems related to carriership of a genetic disorder. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Seminars in Thrombosis and Hemostasis
volume
29
issue
1
pages
31 - 36
publisher
Georg Thieme Verlag
external identifiers
  • wos:000181339600005
  • pmid:12640562
  • scopus:0037325171
ISSN
1098-9064
DOI
10.1055/s-2003-37937
language
English
LU publication?
yes
id
a46e1356-c822-4eec-8d7b-f749726f2c64 (old id 112760)
date added to LUP
2007-07-26 09:15:20
date last changed
2017-01-01 06:46:08
@article{a46e1356-c822-4eec-8d7b-f749726f2c64,
  abstract     = {Basic analysis of a potential carrier includes calculation of the probability, or odds, for carriership based on pedigree and clotting factor analysis. Genotype assessment constitutes a more accurate method of carrier detection. Where circumstances permit, the genetic diagnosis of hemophilia should be based on the direct identification of the pathogenic mutation in the factor (F) VIII gene. Neutral mutations in the FVIII gene and the risk of mosaicism (a mixture of normal and mutation carrying cells) in sporadic families may cause misclassification. If it is not possible to use the mutation for diagnostic purposes, it may be possible to use linked polymorphic markers (restriction fragment length polymorphisms [RFLP]) to trace the inheritance of the hemophilia gene within a pedigree. Linkage analysis is limited because of uninformative patterns of polymorphic markers, ethnic variation, linkage disequilibrium, and the need for participation of family members, and it is not useful in sporadic families, which constitute more than half of the hemophilia families. Potential carriers of hemophilia should be offered qualified assistance in genetic information, testing, and counseling to help them to cope with the psychological and ethical problems related to carriership of a genetic disorder.},
  author       = {Ljung, Rolf and Tedgård, Ulf},
  issn         = {1098-9064},
  language     = {eng},
  number       = {1},
  pages        = {31--36},
  publisher    = {Georg Thieme Verlag},
  series       = {Seminars in Thrombosis and Hemostasis},
  title        = {Genetic counselling of haemophilia carriers},
  url          = {http://dx.doi.org/10.1055/s-2003-37937},
  volume       = {29},
  year         = {2003},
}