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The molecular analysis of haemophilia A: a guideline from the UK haemophilia centre doctors’ organization haemophilia genetics laboratory network
Author(s) -
Keeney S.,
Mitchell M.,
Goodeve A.
Publication year - 2005
Publication title -
haemophilia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.213
H-Index - 92
eISSN - 1365-2516
pISSN - 1351-8216
DOI - 10.1111/j.1365-2516.2005.01111.x
Subject(s) - haemophilia , medicine , guideline , haemophilia b , haemophilia a , molecular genetics , disease , prenatal diagnosis , genetic counseling , genetics , pediatrics , pathology , gene , pregnancy , biology , fetus
Summary. 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.