Haemophilia : strategies for carrier detection and prenatal diagnosis
(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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- author
- 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
- organization
- publishing date
- 1993
- 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
-
- pmid:8324863
- 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
- 2024-08-25 03:15:43
@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}}, 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}}, 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}}, url = {{https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2393505/}}, volume = {{71}}, year = {{1993}}, }