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)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/112760
- author
- Ljung, Rolf
LU
and Tedgård, Ulf
LU
- organization
- publishing date
- 2003
- 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
- pmid:12640562
- 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
- 2016-04-01 15:46:01
- date last changed
- 2022-01-28 06:55:00
@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}},
doi = {{10.1055/s-2003-37937}},
volume = {{29}},
year = {{2003}},
}