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Guideline for the diagnosis and management of the rare coagulation disorders - UKHCD

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Last updated:5th Aug 2014
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

The objective of this document is to guide diagnosis and management of patients with rare coagulation disorders (RCD). This document replaces the 2004 UK Haemophilia Centre Doctors’ Organization (UKHCDO) rare coagulation disorders guideline (Bolton-Maggs et al, 2004a).

The RCD are here defined as monogenic bleeding disorders caused by deficiency of a soluble coagulation factor or factors, other than von Willebrand disease (VWD), Haemophilia A or Haemophilia B. The RCD described in this document include heritable deficiencies of fibrinogen, prothrombin, factor (F) V, FVII, FX, FXI and FXIII, combined FV and FVIII deficiency and vitamin K-dependent coagulation factor deficiency. RCD are usually caused by recessive inheritance of unique or rare nucleotide variations in the genes encoding the coagulation factors or in proteins necessary for their post-translational processing. RCD are more common in ethnic groups in which consanguineous partnerships are common, because of the higher likelihood of homozygosity. Dysfibrinogenaemia and FXI deficiency may show autosomal dominant or recessive inheritance (Table I). Heterozygous carriers of variations in other classically ‘recessive’ RCDs sometimes display bleeding symptoms.


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