+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

The molecular analysis of haemophilia A: a guideline from the UK haemophilia centre doctors' organization haemophilia genetics laboratory network



The molecular analysis of haemophilia A: a guideline from the UK haemophilia centre doctors' organization haemophilia genetics laboratory network



Haemophilia 11(4): 387-397



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.

Please choose payment method:






(PDF emailed within 0-6 h: $19.90)

Accession: 050674835

Download citation: RISBibTeXText

PMID: 16011593

DOI: 10.1111/j.1365-2516.2005.01111.x


Related references

The molecular analysis of haemophilia B: a guideline from the UK haemophilia centre doctors' organization haemophilia genetics laboratory network. Haemophilia 11(4): 398-404, 2005

The molecular analysis of von Willebrand disease: a guideline from the UK Haemophilia Centre Doctors' Organisation Haemophilia Genetics Laboratory Network. Haemophilia 14(5): 1099-1111, 2008

A United Kingdom Haemophilia Centre Doctors' Organization guideline approved by the British Committee for Standards in Haematology: guideline on the use of prophylactic factor VIII concentrate in children and adults with severe haemophilia A. British Journal of Haematology 149(4): 498-507, 2010

Guidelines for the management of acute joint bleeds and chronic synovitis in haemophilia: A United Kingdom Haemophilia Centre Doctors' Organisation (UKHCDO) guideline. Haemophilia 23(4): 511-520, 2017

Diagnosis and treatment of factor VIII and IX inhibitors in congenital haemophilia: (4th edition). UK Haemophilia Centre Doctors Organization. British Journal of Haematology 160(2): 153-170, 2013

The diagnosis of von Willebrand disease: a guideline from the UK Haemophilia Centre Doctors' Organization. Haemophilia 10(3): 199-217, 2004

Management of von Willebrand disease: a guideline from the UK Haemophilia Centre Doctors' Organization. Haemophilia 10(3): 218-231, 2004

Recommendations on choice of therapeutic products for the treatment of patients with haemophilia A, haemophilia B and von Willebrand's disease. UK Regional Haemophilia Centre Directors Committee. Blood Coagulation & Fibrinolysis 3(2): 205-214, 1992

Guideline on the selection and use of therapeutic products to treat haemophilia and other hereditary bleeding disorders. A United Kingdom Haemophilia Center Doctors' Organisation (UKHCDO) guideline approved by the British Committee for Standards in Haematology. Haemophilia 14(4): 671-684, 2008

Haemophilia Experiences, Results and Opportunities (HERO) Study: influence of haemophilia on interpersonal relationships as reported by adults with haemophilia and parents of children with haemophilia. Haemophilia 20(4): E287-E295, 2015

The diagnosis and management of factor VIII and IX inhibitors: a guideline from the UK Haemophilia Centre Doctors' Organization (UKHCDO). British Journal of Haematology 111(1): 78-90, 2000

Guideline for the diagnosis and management of the rare coagulation disorders: a United Kingdom Haemophilia Centre Doctors' Organization guideline on behalf of the British Committee for Standards in Haematology. British Journal of Haematology 167(3): 304-326, 2014

First-line immune tolerance induction for children with severe haemophilia A: A protocol from the UK Haemophilia Centre Doctors' Organisation Inhibitor and Paediatric Working Parties. Haemophilia 23(5): 654-659, 2017

UK Haemophilia Centre Doctors' Organisation guidance on the use of extended-half-life coagulation factor concentrates in routine clinical practice: Report of a meeting on their adoption by Belgian haemophilia treaters. Haemophilia 24(5): E378-E380, 2018

Gait analysis in children with haemophilia: first Italian experience at the Turin Haemophilia Centre. Haemophilia 22(3): E184-E191, 2017