Inhibitor development and management in three non-severe haemophilia A patients with T295A variant
Horneff, S.; Marquardt, N.; Klein, C.; Albert, T.; Zeitler, H.; Oldenburg, J.; Ivaskevicius, V.; Goldmann, G. · Zeitschrift für Orthopädie und Unfallchirurgie · 2014 · Heft S 01 · S. S9-S12
Bibliografische Angaben
Zusammenfassung
SummaryMissense mutations are the most common F8 gene defects among the patients with nonsevere haemophilia A. This type of mutation is typically associated with low (5%) inhibitor risk. In the present retrospective study we analysed the clinical data of 16 haemophiliacs with the T295A missense mutation treated at Bonn Haemophilia Centre. In total, three patients developed inhibitors: two patients experienced low-titer and one high-titer inhibitors. Both patients with low titer inhibitors underwent successful ITI. The third patient, at the age of 81, developed initially low-titer inhibitors (3 BU/ml) after rFVII…