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Blood, 1 April 2006, Vol. 107, No. 7, pp. 2759-2765. Prepublished online as a Blood First Edition Paper on December 8, 2005; DOI 10.1182/blood-2005-09-3702. This Article Full Text (PDF) Supplemental Table All Versions of this Article: 2005-09-3702v1 107/7/2759    most recent Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by El-Maarri, O. Articles by Oldenburg, J. Search for Related Content PubMed PubMed Citation Articles by El-Maarri, O. Articles by Oldenburg, J. Social Bookmarking                   What's this?  Previous Article  |  Next Article  Submitted September 14, 2005 Accepted November 22, 2005 Lack of F8 mRNA: a novel mechanism leading to Hemophilia A Osman El-Maarri*, Heike Singer, Claudia Klein, Matthias Watzka, Ursula Herbiniaux, Hans H Brackmann, Jorg Schroder, Jochen Graw, Clemens R Muller, Wolfram Schramm, Rainer Schwaab, Thomas Haaf, Peter Hanfland, and Johannes Oldenburg Institut of Experimental Haematology and Transfusion Medicine, University of Bonn, Bonn, Germany Institut of Experimental Haematology and Transfusion Medicine, University of Bonn, Bonn, Germany; Institute of Human Genetics, Wuerzburg, Germany Institute of Developmental Genetics, GSF-National Research Center for Envirenment and Health, Neuherberg, Germany Institute of Human Genetics, Wuerzburg, Germany Medical Clinic Dept of Transfusion Medicine, Munich, Germany Institute of Human Genetics, Mainz, Germany Institut of Experimental Haematology and Transfusion Medicine, University of Bonn, Bonn, Germany; Institute of Human Genetics, Wuerzburg, Germany; Institute of Transfusion Medecine and Immunhaematology, DRK Blood Donor, Frankfurt, Germany * Corresponding author; email: osman.elmaarri{at}ukb.uni-bonn.de. Haemophilia A (HA) is caused by partial or total deficiency of F8 protein activity. In a small group, about 1.8% of HA patients, no mutation is found in the F8 gene. Among this group, we report here on one patient with severe HA in whom no mRNA of the F8 gene was detected. Using two common polymorphisms in F8 exon 14, we were able to show that the same allele shared by the patient, his mother and his sister was not detected by reverse transcription PCR (RT-PCR) from total blood mRNA. Skewed X-chromosome inactivation in both the mother and the sister was excluded by studying the methylation profile of the androgen receptor gene (HUMARA locus). These findings strongly suggest that the cause of HA in this patient is either absence or rapid degradation of the F8 mRNA which points to a novel mechanism leading to HA. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this?

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