Detection of carriers and prenatal diagnosis of bleeding disorders.
Carrier detection and prenatal diagnosis in the three commonest bleeding disorders (hemophilia A and B and von Wilebrands disease) can be performed either phenotypically or genotypically. Phenotypic analysis for carrier detection results only in a probabilistic assessment whereas DNA analysis, either by direct defect detection or by DNA polymorphism based gene tracking, can result in an accuracy of effectively 100%. Direct defect detection is the method of choice but can be technically demanding. Polymorphism analysis is much simpler and is now being used in family studies world wide.
Peake
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Department of Medicine and Pharmacology, University of Sheffield, Royal Hallamshire Hospital, UK.
D006580:Genetic Carrier Screening / Q000379:methods; D006467:Hemophilia A / Q000175:diagnosis* / Q000235:genetics; D002836:Hemophilia B / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D011296:Prenatal Diagnosis / Q000379:methods; D014842:von Willebrand Diseases / Q000175:diagnosis* / Q000235:genetics