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Factor VIII gene inversions in severe hemophilia A : Results of an international consortium study
-
- Antonarakis, S. E. (author)
- University of Geneva Medical School
- Rossiter, J. P. (author)
- Young, M. (author)
- show more...
- Horst, J. (author)
- De Moerloose, P. (author)
- Sommer, S. S. (author)
- Ketterling, R. P. (author)
- Kazazian, H. H. (author)
- Négrier, C. (author)
- Vinciguerra, C. (author)
- Gitschier, J. (author)
- Goossens, M. (author)
- Girodon, E. (author)
- Ghanem, N. (author)
- Plassa, F. (author)
- Lavergne, J. M. (author)
- Vidaud, M. (author)
- Costa, J. M. (author)
- Laurian, Y. (author)
- Lin, S. W. (author)
- Lin, S. R. (author)
- Shen, M. C. (author)
- Lillicrap, D. (author)
- Taylor, S. A.M. (author)
- Windsor, S. (author)
- Valleix, S. V. (author)
- Nafa, K. (author)
- Sultan, Y. (author)
- Delpech, M. (author)
- Vnencak-Jones, C. L. (author)
- Phillips, J. A. (author)
- Koumbarelis, E. (author)
- Gialeraki, A. (author)
- Mandalaki, T. (author)
- Jenkins, P. V. (author)
- Collins, P. W. (author)
- Pasi, K. J. (author)
- Goodeve, A. (author)
- Peake, I. (author)
- Preston, F. E. (author)
- Schwartz, M. (author)
- Scheibel, E. (author)
- Ingerslev, J. (author)
- Cooper, D. N. (author)
- Millar, D. S. (author)
- Kakkar, V. V. (author)
- Giannelli, F. (author)
- Naylor, J. A. (author)
- Tizzano, E. F. (author)
- Baiget, M. (author)
- Domenech, M. (author)
- Altisent, C. (author)
- Tusell, J. (author)
- Beneyto, M. (author)
- Lorenzo, J. I. (author)
- Gaucher, C. (author)
- Mazurier, C. (author)
- Peerlinck, K. (author)
- Matthijs, G. (author)
- Cassiman, J. J. (author)
- Vermylen, J. (author)
- Mori, P. G. (author)
- Acquila, M. (author)
- Caprino, D. (author)
- Inaba, H. (author)
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- (creator_code:org_t)
- American Society of Hematology, 1995
- 1995
- English.
- In: Blood. - : American Society of Hematology. - 0006-4971 .- 1528-0020. ; 86:6, s. 2206-2212
- Journal article (peer-reviewed)
Abstract
Subject headings
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- 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 ware observed among 225 cases (≃ 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%]).
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Hematologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Hematology (hsv//eng)
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- art (subject category)
- ref (subject category)
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- By the author/editor
- Antonarakis, S. ...
- Rossiter, J. P.
- Young, M.
- Horst, J.
- De Moerloose, P.
- Sommer, S. S.
- show more...
- 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.M.
- Windsor, S.
- Valleix, S. V.
- Nafa, K.
- Sultan, Y.
- Delpech, M.
- Vnencak-Jones, C ...
- Phillips, J. A.
- Ljung, R. C.R.
- 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, K.
- Matthijs, G.
- Cassiman, J. J.
- Vermylen, J.
- Mori, P. G.
- Acquila, M.
- Caprino, D.
- Inaba, H.
- show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
- MEDICAL AND HEAL ...
- and Clinical Medicin ...
- and Hematology
- Articles in the publication
- Blood
- By the university
- Lund University
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