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Title: Factor VIII gene inversions in severe hemophilia A: results of an international consortium study
Authors: Antonarakis, S E
Rossiter, J P
Young, M
Horst, J
Sommer, S S
Ketterling, R P
Kazazian, H H
Négrier, C
Vinciguerra, C
Gitschier, J
Goossens, M
Girodon, E
Ghanem, N
Plassa, F
Lavergne, J M
Vidaud, M
Costa, J M
Laurian, Y
Lin, S W
Lin, S R
Shen, M C
Lillicrap, D
Taylor, S A
Windsor, S
Valleix, S V
Nafa, K
Sultan, Y
Delpech, M
Vnencak-Jones, C L
Phillips, J A
Ljung, R C
Koumbarelis, E
Gialeraki, A
Mandalaki, T
Jenkins, P V
Collins, P W
Pasi, K J
Goodeve, A
Peake, I
Preston, F E
Schwartz, M
Scheibel, E
Ingerslev, J
Cooper, D N
Millar, D S
Kakkar, V V
Giannelli, F
Naylor, J A
Tizzano, E F
Baiget, M
Domenech, M
Altisent, C
Tusell, J
Beneyto, M
Lorenzo, J I
Gaucher, C
Mazurier, C
Peerlinck, Kathelijne
Matthijs, Gert
Cassiman, Jean-Jacques
Vermylen, Jozef
Mori, P G
Acquila, M
Caprino, D
Inaba, H #
Issue Date: Oct-1995
Series Title: Blood vol:86 issue:6 pages:2206-12
Abstract: 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%]).
ISSN: 0006-4971
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Human Mutations and Polymorphisms Section (-)
Molecular and Vascular Biology
Forensic Biomedical Sciences
Department of Human Genetics - miscellaneous
Faculty of Medicine - miscellaneous
# (joint) last author

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