Haemophilia : the official journal of the World Federation of Hemophilia
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Multicenter Study
Variability in bleeding phenotype in Amish carriers of haemophilia B with the 31008 C-->T mutation.
The aim of this study was to characterize the variability of bleeding phenotype and its association with plasma factor IX coagulant activity (FIX:C) in haemophilia B carriers in a large Amish pedigree with a unifying genetic mutation, C-to-T transition at base 31008 of the factor IX gene (Xq27.1-27.2). A cross-sectional survey of haemophilia B carriers included a multiple choice questionnaire evaluating symptoms of mucocutaneous bleeding, joint bleeding and bleeding after haemostatic stress [menstruation, postpartum haemorrhage (PPH), dental extractions and invasive surgeries]. Severity of bleeding was graded as 0 to 4, 0 being no bleeding whereas 4 being severe bleeding. ⋯ Subcutaneous haematoma formation and bleeding after haemostatic stress requiring treatment were associated with bleeding scores >/=3. Phenotypic variability existed among the carriers of haemophilia B who belonged to a single pedigree carrying a single unifying mutation. The utility of bleeding scores to define bleeding phenotype precisely in haemophilia B carriers needs further evaluation.
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Multicenter Study
Cost and effectiveness of treatments for mild-to-moderate bleeding episodes in haemophilia patients with inhibitors in Korea.
First-line treatment for mild-to-moderate bleeding episodes in patients with haemophilia and inhibitors in Korea is currently activated prothrombin complex concentrate (aPCC) with recombinant activated factor VII (rFVIIa) as second-line therapy or as a last resort. The aim of this study was to estimate the cost and effectiveness of aPCC vs. rFVIIa for treating mild-to-moderate bleeds in inhibitor patients from the Korean reimbursement authorities' perspective. Clinical outcomes and resource utilization data (number of doses, average dose, number of outpatient visits, inpatient stays, ambulance transport and concomitant medications) were collected from an observational study involving four Korean paediatric haemophilia centres. ⋯ Mean total direct medical costs from bleed initiation to cessation were estimated at Korean Won (KRW)12 460 thousand (US$12 311) for rFVIIa given as first-line therapy and KRW18 304 thousand (US$18 085) for aPCC given as first-line therapy. Sensitivity analyses confirmed the cost-effectiveness of rFVIIa vs. aPCC given as first-line therapy. In Korea, use of rFVIIa as first-line therapy for treatment of mild-to-moderate bleeding episodes in inhibitor patients is both clinically effective and cost-effective compared with initial aPCC treatment. rFVIIa should be considered as the first-line treatment for mild-to-moderate bleeding episodes in patients with haemophilia and inhibitors in Korea.
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Multicenter Study
Registry of inherited coagulopathies in Brazil: first report.
Inherited coagulopathies are bleeding disorders, which require treatment for life. Keeping an updated registry on these diseases is crucial for planning care, documenting prevalence of diseases and evaluating effectiveness of resources. We have analysed data from 26 treatment centres on coagulopathies in Brazil. ⋯ Hepatitis C virus infection was present in 34.9%, 29.7% and 12% of patients with haemophilia A, B and VWD, respectively. Infection by hepatitis B and human T-cell leukemia-lymphoma virus was also reported. This is the first report on the registry of patients with inherited coagulopathies in Brazil, supposed to be the third largest population of patients with haemophilia.