title: Risk of erroneous results in carrier testing for haemophilia A without prior DNA analysis in male index patients.
authors: Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
authors: D E
authors: DE
authors: Fransen van de Putte
authors: Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
authors: W S
authors: WS
authors: Frankhuizen
authors: Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
authors: L
authors: L
authors: Vijfhuizen
authors: Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
authors: L
authors: L
authors: Groenewegen
authors: University Medical Center Groningen, Beatrix Children's Hospital, University of Groningen, Groningen, The Netherlands.
authors: R Y J
authors: RYJ
authors: Tamminga
authors: Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
authors: K
authors: K
authors: Bouman
authors: Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
authors: A J
authors: AJ
authors: van Essen
authors: Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
authors: A C J
authors: ACJ
authors: Gijsbers
authors: Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
authors: C A L
authors: CAL
authors: Ruivenkamp
authors: Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
authors: E M J
authors: EMJ
authors: Boon
mesh_terms: D003951:Diagnostic Errors; D005091:Exons; D005169:Factor VIII / Q000235:genetics*; D006580:Genetic Carrier Screening; D006467:Hemophilia A / Q000175:diagnosis* / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation
chemical_list: D005169:Factor VIII
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references: Plug I, Mauser-Bunschoten EP, Brocker-Vriends AH et al. Bleeding in carriers of hemophilia. Blood 2006; 108: 52-6.
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references: Green P, Hill M, Bowen DJ. Duplications involving int22h-1 of the factor VIII gene: a cause for concern in genetic testing for hemophilia A? J Thromb Haemost 2007; 5: 2155-6.
references: Rossetti LC, Radic CP, Larripa IB, De Brasi CD. Developing a new generation of tests for genotyping hemophilia-causative rearrangements involving int22h and int1h hotspots in the factor VIII gene. J Thromb Haemost 2008; 6: 830-6.