Search results for " hemophilia B"
showing 4 items of 4 documents
New data from the Italian National Register of Congenital Coagulopathies, 2016 Annual Survey
2018
BACKGROUND: In Italy, the National Register of Congenital Coagulopathies (NRCC) collects epidemiological and therapeutic data from patients affected by haemophilia A (HA), haemophilia B (HB), von Willebrand’s disease (vWD) and other rare coagulation disorders. Here we present data from the 2016 annual survey. MATERIALS AND METHODS: Data are provided by the Italian Haemophilia Centres, on a voluntary basis. Information flows from every Centre to a web-based platform of the Italian Association of Haemophilia Centres, shared with the Italian National Institute of Health, in accordance with current privacy laws. Patients are classified by diagnosis, disease severity, age, gender and treatment-r…
Hemophilia A and Hemophilia B
2019
Abstract While observed for centuries, the diseases that we call hemophilia have been clarified and elucidated in the past 50 to 60 years. We now know the genetics and transmission of the various types of hemophilia and are greatly facilitated by their laboratory features. Various hemorrhagic manifestations of the various hemophilias include hemarthrosis, intramuscular hemorrhage, retroperitoneal bleeding, retropharyngeal bleeding, and central nervous system hemorrhage. In the past, trauma and surgery were associated with serious or fatal bleeding. Now, multiple agents are available to treat or prophylax against hemorrhage. Specific diagnoses require specific therapeutics. Fatal hemorrhagic…
Using pharmacokinetics for tailoring prophylaxis in people with hemophilia switching between clotting factor products: A scoping review.
2019
Abstract The objective of this scoping review is to summarize the current use of pharmacokinetics for tailoring prophylaxis in hemophilia patients switching between clotting factor products. Patients with hemophilia may require switching of clotting factor concentrates due to a variety of factors, but there have been perceived risks associated with switching, such as inhibitor development or suboptimal protection due to inadequate dosing while titrating treatment. Studies that look at patients switching from one clotting factor concentrate to another are categorized in terms of their primary and/or secondary objectives, notably biosimilarity and comparative pharmacokinetic studies and inhib…
F9 missense mutations impairing factor IX activation are associated with pleiotropic plasma phenotypes.
2022
Background Circulating dysfunctional factor IX (FIX) might modulate distribution of infused FIX in hemophilia B (HB) patients. Recurrent substitutions at FIX activation sites (R191-R226, >300 patients) are associated with variable FIX activity and antigen (FIXag) levels. Objectives To investigate the (1) expression of a complete panel of missense mutations at FIX activation sites and (2) contribution of F9 genotypes on the FIX pharmacokinetics (PK). Methods We checked FIX activity and antigen and activity assays in plasma and after recombinant expression of FIX variants and performed an analysis of infused FIX PK parameters in patients (n = 30), mostly enrolled in the F9 Genotype and PK HB …