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Factor VIII gene inversions in severe hemophilia A: results of an
international consortium study
SE Antonarakis, JP Rossiter, M Young, J Horst, P de Moerloose, SS Sommer, RP Ketterling, HH Kazazian , C Negrier and C Vinciguerra
Geneva University Medical School, Switzerland.
Twenty-two molecular diagnostic laboratories from 14 countries participated
in a consortium study to estimate the impact of Factor VIII gene inversions
in severe hemophilia A. A total of 2,093 patients with severe hemophilia A
were studied; of those, 740 (35%) had a type 1 (distal) factor VIII
inversion, and 140 (7%) showed a type 2 (proximal) inversion. In 25 cases,
the molecular analysis showed additional abnormal or polymorphic patterns.
Ninety-eight percent of 532 mothers of patients with inversions were
carriers of the abnormal factor VIII gene; when only mothers of nonfamilial
cases were studied, 9 de novo inversions in maternal germ cells were
observed among 225 cases (approximately 1 de novo maternal origin of the
inversion in 25 mothers of sporadic cases). When the maternal grandparental
origin was examined, the inversions occurred de novo in male germ cells in
69 cases and female germ cells in 1 case. The presence of factor VIII
inversions is not a major predisposing factor for the development of factor
VIII inhibitors; however, slightly more patients with severe hemophilia A
and factor VIII inversions develop inhibitors (130 of 642 [20%]) than
patients with severe hemophilia A without inversions (131 of 821 [16%]).
Volume 86,
Issue 6,
pp. 2206-2212,
09/15/1995
Copyright © 1995 by The American Society of Hematology
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