The molecular analysis of haemophilia A: a guideline from the UK haemophilia centre doctors' organization haemophilia genetics laboratory network.
Haemophilia A is a common inherited bleeding disorder that 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 defect. 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 A.
Keeney
S
S
Department of Haematology, Molecular Diagnostics Centre, Manchester Royal Infirmary, Manchester, UK. steve.keeney@cmmc.nhs.uk
Mitchell
M
M
Goodeve
A
A
D001483:Base Sequence; D015139:Blotting, Southern / Q000379:methods; D002851:Chromatography, High Pressure Liquid / Q000379:methods; D004586:Electrophoresis / Q000379:methods; D005169:Factor VIII / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D008040:Genetic Linkage / Q000235:genetics; D006467:Hemophilia A / Q000175:diagnosis / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D009154:Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction / Q000379:methods; D011296:Prenatal Diagnosis / Q000379:methods; D012955:Societies, Medical; D009626:Terminology as Topic; D006113:United Kingdom
D005169:Factor VIII