Thirteen novel mutations in the factor VIII gene in the Nijmegen haemophilia A patient population.

Abstract:

:The development of neutralising antibodies to factor VIII (FVIII) is a major complication of haemophilia A (HA) therapy. We aimed to construct an individual risk profile for the development of inhibitors in HA and started by screening for the causative mutation in our HA patient population. A total of 109 patients and 28 carriers were screened. The analysis revealed 38 different mutations in the FVIII gene, of which 13 have not been described on the Haemophilia A Mutation, Search, Test and Resource Site (HAMSTeRS). Twenty-five mutations have been reported previously and all except two had a similar phenotype to what has been described. Three novel mutations were associated with severe HA: one non-missense mutation, a small insertion in the A2 domain, and two missense mutations, a H256R mutation in the A1 domain and a L2025P substitution in the C1 domain. One novel mutation, Y156C, was associated with moderate HA. Nine novel mutations caused mild HA. The P130R, D167E and V278M mutations are located in the A1 domain. R439C, Y511H, A544G and Q645H in the A2 domain, L1758F in the A3 domain and a S2157R mutation in the C1 domain. In conclusion, the genotypic profile of our HA population was not different from others described and is suitable to study inhibitor formation.

journal_name

Br J Haematol

authors

Boekhorst J,Verbruggen B,Lavergne JM,Costa JM,Schoormans SC,Brons PP,van Kraaij MG,Nováková IR,van Heerde WL

doi

10.1111/j.1365-2141.2005.05737.x

subject

Has Abstract

pub_date

2005-10-01 00:00:00

pages

109-17

issue

1

eissn

0007-1048

issn

1365-2141

pii

BJH5737

journal_volume

131

pub_type

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