Dr Rocino has received honoraria for speaking, organising educational sessions or consultancy services from Baxter, Bayer, CSL Behring, Novo Nordisk and Wyeth Lederle. Dr Fijnvandraat has received consultancy fees from Baxter. Dr Reipert is an employee of Baxter Bioscience. Dr Windyga has received research funds from Baxter, Bayer, Novo Nordisk, Wyeth, Octapharma and honoraria KU-60019 molecular weight for speaking at scientific meetings or for consultancy services from Baxter, Bayer, Octapharma, CSL Behring, Novo Nordisk, and Biovitrum. All other authors have no disclosures to make. “
“Summary. Haemophilia A and B in one individual
may arise from co-incident inheritance of independent mutations in the F8 and F9 genes. However, this association is rare and has been studied poorly
at a genetic level. We report a male patient with abnormal bleeding and reduced factor VIII:C (26 IU dL−1) and factor IX:C (35 IU dL−1). This index case harboured a F8 c.979C>G transversion (predictive of p.Leu327Val) and a F9 c.845A>G transition (predictive of p.His282Arg) which have been previously associated with mild haemophilia A and B, respectively. Identical F8 and F9 mutations were identified in the mother CT99021 datasheet and maternal grandmother. However, an affected maternal uncle showed only the F8 c.979C>G mutation, indicating haemophilia A alone. The sister of the index case was heterozygous only for F9 c.845A>G, indicating carriership of haemophilia B alone. The non-Mendelian inheritance of F8 c.979C>G and F9 c.845A>G in this kindred is consistent with recombination between F8 and F9 and illustrates the large recombination distance between these loci. Recognition of this phenomenon was essential for accurate genetic counselling in this kindred. “
“Summary. Circumcision is one of the most common procedures performed
in male neonates, but few published reports have described circumcision in patients with bleeding disorders. The aim of this study was to analyse outcomes of circumcision among children evaluated at our institution to determine the extent of complications and to provide guidelines for circumcision management. We searched our patient database for records of children who medchemexpress were followed up at the Mayo Clinic Comprehensive Hemophilia Center from 2000 through 2007 and who had been circumcised. We retrospectively reviewed the medical records to document complications and determine management strategies in this patient population. Of 55 children and young adults identified (median [range] age, 15 years [11 months to 21 years]), 48 patients were circumcised. Indications for circumcision were parental request (n = 45) and medical recommendation (n = 3). Twelve of 21 patients with a known bleeding disorder at the time of circumcision received factor replacement before the procedure. Three of these 21 patients had bleeding complications.