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Haemophilia, von Willebrand disease and other coagulation defects

What are the symptoms?

The haemophilias and VWD may be severe, moderate or mild depending on the functional level of the deficient factor. In the severe form of haemophilia, where factor VIII or factor IX are virtually absent, repeated bleeding into joints and muscles is characteristic and can lead to long term joint damage. These effects are unusual in the milder forms. In VWD, bleeding from the mouth and nose is particularly common and women tend to experience heavy periods but the problem is rarely very severe.

Many other conditions, which are inherited and can give rise to abnormal bleeding, have also been described. These are generally milder than haemophilia and are usually autosomal recessive, only being fully expressed in the homozygous (having two identical forms of the gene, one inherited from each parent) or doubly heterozygous (having two different forms of a particular gene, one inherited from each parent) state. Examples are deficiencies of factors XI, I (fibrinogen), V, VII, X and XIII, all of which are particularly found in communities where consanguinity (blood relationship between parents because of shared ancestry) is common.

Easy bruising and bleeding after injury or surgery can occur in any of the disorders described above unless effective treatment is given.

View Background Background  |  How is it treated? View How is it treated?

Medical text written April 2002 by Dr Brian Colvin. Last updated April 2007 by Dr Brian Colvin, Consultant Haematologist, Haemophilia Centre, Royal London Hospital, London, UK.

 

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