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Haemophilia : strategies for carrier detection and prenatal diagnosis

Peake, I R; Lillicrap, D P; Boulyjenkov, V; Briet, E; Chan, V; Ginter, E K; Kraus, E M; Ljung, R LU ; Mannucci, P M and Nicolaides, K (1993) In Bulletin of the World Health Organization 71(3-4). p.58-429
Abstract

In 1977 WHO published in the Bulletin a Memorandum on Methods for the Detection of Haemophilia Carriers. This was produced following a WHO/WFH (World Federation of Haemophilia) Meeting of Investigators in Geneva in November 1976, and has served as a valuable reference article on the genetics of haemophilia. The analyses discussed were based on phenotypic assessment, which, at that time, was the only procedure available. The molecular biology revolution in genetics during the 1980s made enormous contributions to our understanding of the molecular basis of the haemophilias and now permits precise carrier detection and prenatal diagnosis. WHO and WFH held a joint meeting on this subject in February 1992 in Geneva. This article is the... (More)

In 1977 WHO published in the Bulletin a Memorandum on Methods for the Detection of Haemophilia Carriers. This was produced following a WHO/WFH (World Federation of Haemophilia) Meeting of Investigators in Geneva in November 1976, and has served as a valuable reference article on the genetics of haemophilia. The analyses discussed were based on phenotypic assessment, which, at that time, was the only procedure available. The molecular biology revolution in genetics during the 1980s made enormous contributions to our understanding of the molecular basis of the haemophilias and now permits precise carrier detection and prenatal diagnosis. WHO and WFH held a joint meeting on this subject in February 1992 in Geneva. This article is the result of these discussions.

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Please use this url to cite or link to this publication:
author
organization
publishing date
type
Contribution to journal
publication status
published
keywords
Base Sequence, Child, Discriminant Analysis, Factor IX, Factor VIII, Female, Genetic Techniques, Hemophilia A, Heterozygote Detection, Humans, Infant, Newborn, Male, Molecular Sequence Data, Odds Ratio, Pedigree, Phenotype, Pregnancy, Prenatal Diagnosis, Journal Article, Review
in
Bulletin of the World Health Organization
volume
71
issue
3-4
pages
58 - 429
publisher
World Health Organization
external identifiers
  • scopus:0027351077
ISSN
0042-9686
language
English
LU publication?
yes
id
d0c99818-fc35-44fe-97f3-02e0dbc1e5de
alternative location
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2393505/
date added to LUP
2017-01-02 09:08:39
date last changed
2017-01-08 06:04:40
@article{d0c99818-fc35-44fe-97f3-02e0dbc1e5de,
  abstract     = {<p>In 1977 WHO published in the Bulletin a Memorandum on Methods for the Detection of Haemophilia Carriers. This was produced following a WHO/WFH (World Federation of Haemophilia) Meeting of Investigators in Geneva in November 1976, and has served as a valuable reference article on the genetics of haemophilia. The analyses discussed were based on phenotypic assessment, which, at that time, was the only procedure available. The molecular biology revolution in genetics during the 1980s made enormous contributions to our understanding of the molecular basis of the haemophilias and now permits precise carrier detection and prenatal diagnosis. WHO and WFH held a joint meeting on this subject in February 1992 in Geneva. This article is the result of these discussions.</p>},
  author       = {Peake, I R and Lillicrap, D P and Boulyjenkov, V and Briet, E and Chan, V and Ginter, E K and Kraus, E M and Ljung, R and Mannucci, P M and Nicolaides, K},
  issn         = {0042-9686},
  keyword      = {Base Sequence,Child,Discriminant Analysis,Factor IX,Factor VIII,Female,Genetic Techniques,Hemophilia A,Heterozygote Detection,Humans,Infant, Newborn,Male,Molecular Sequence Data,Odds Ratio,Pedigree,Phenotype,Pregnancy,Prenatal Diagnosis,Journal Article,Review},
  language     = {eng},
  number       = {3-4},
  pages        = {58--429},
  publisher    = {World Health Organization},
  series       = {Bulletin of the World Health Organization},
  title        = {Haemophilia : strategies for carrier detection and prenatal diagnosis},
  volume       = {71},
  year         = {1993},
}