Haemophilia : strategies for carrier detection and prenatal diagnosis

• 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.

Nyckelord

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

Publikations- och innehållstyp

art (ämneskategori)

ref (ämneskategori)