The molecular analysis of haemophilia B: a guideline from the UK haemophilia centre doctors' organization haemophilia genetics laboratory network.
Haemophilia B is one of the most common inherited bleeding disorders and has a well understood pathophysiology. Our understanding of the molecular genetics of the disease has allowed the development of comprehensive carrier and prenatal diagnosis for this single gene disorder. Continuing technological developments improve our ability to provide genetic analysis in a rapid and cost-effective manner. This guideline aims to provide advice on current best laboratory practice when approaching genetic diagnosis of haemophilia B.
Mitchell
M
M
Molecular Genetics Unit, Reference Centre for Haemostatic and Thrombotic Disorders, St. Thomas' Hospital, London, UK. Mike.Mitchell@gstt.nhs.uk
Keeney
S
S
Goodeve
A
A
D001483:Base Sequence; D002851:Chromatography, High Pressure Liquid / Q000379:methods; D004586:Electrophoresis / Q000379:methods; D005164:Factor IX / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D008040:Genetic Linkage / Q000235:genetics; D002836:Hemophilia B / Q000175:diagnosis / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D011296:Prenatal Diagnosis / Q000379:methods; D012955:Societies, Medical; D009626:Terminology as Topic; D006113:United Kingdom
D005164:Factor IX