HLA class II genotype and factor VIII inhibitors in mild haemophilia A patients with an Arg593 to Cys mutation

Haemophilia : the Official Journal of the World Federation of Hemophilia
Wendy S BrilJan Voorberg

Abstract

We evaluated inhibitor formation in a group of patients with mild haemophilia A caused by an Arg593 to Cys mutation. A remarkably high cumulative inhibitor incidence of 14% over 22 years was observed. Three of 49 patients developed transient, low-titre inhibitors, which remained below 2.0 BU mL(-1). Four patients with an Arg593 to Cys mutation developed high-titre inhibitors (>5.0 BU mL(-1)). Three of these patients have been described previously. In this study, we characterized inhibitory antibodies in a fourth patient with high-titre inhibitors. Epitope mapping studies revealed that antibodies were predominantly directed to the A2 domain of factor VIII. We addressed the role of human leucocyte antigen (HLA) class II alleles in inhibitor development in patients with an Arg593 to Cys mutation by HLA genotyping. In the group of inhibitor patients raised frequencies of HLA-DRB1*01 and HLA-DQB1*05 were observed that did not reached statistical significance. Our data suggest that inhibitor development in mild haemophilia A patients with an Arg593 to Cys mutation is not linked to HLA class II profile.

References

May 31, 2001·Haemophilia : the Official Journal of the World Federation of Hemophilia·J AstermarkUNKNOWN MIBS Study Group
Jun 9, 2001·The New England Journal of Medicine·P M Mannucci, E G Tuddenham

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Citations

Mar 4, 2006·International Journal of Hematology·Midori Shima
Nov 25, 2006·Haemophilia : the Official Journal of the World Federation of Hemophilia·K Peerlinck, M Jacquemin
Jun 25, 2008·Haemophilia : the Official Journal of the World Federation of Hemophilia·R d'OironM Jacquemin
Jun 12, 2010·Haemophilia : the Official Journal of the World Federation of Hemophilia·R A EttingerK P Pratt
Jan 8, 2014·Haemophilia : the Official Journal of the World Federation of Hemophilia·D P Hart
Jul 2, 2016·Expert Review of Hematology·Shamsoreza Tabriznia-TabriziHassan Mansouritorghabeh
Apr 24, 2013·Therapeutic Advances in Hematology·Char Witmer, Guy Young
Jul 20, 2018·Haemophilia : the Official Journal of the World Federation of Hemophilia·C BartholdyK Lamberth

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