DISCREPANCY BETWEEN ONE STAGE CLOTTING AND CHROMOGENIC FACTOR VIII ACTIVITY IN WOMEN WITH HEMOPHILIA A AND HEMOPHILIA A CARRIERS: A retrospective clinical study.

Background: For every man diagnosed with hemophilia, approximately 1.6 women are expected to be carriers. Carriers are classified based on their Factor VIII (FVIII) levels and symptoms, ranging from asymptomatic to mild, moderate or severe symptoms.

Clinical management of bleeding manifestations in a family with the thrombomodulin C1611>A (p.Cys537Stop) mutation.

Background: The bleeding disorder described here is due to a heterozygous autosomal dominant C1611>A variant in the thrombomodulin (TM) gene that significantly elevates plasma TM levels, which enhances the activation of protein C. This activation inhibits factors VIIIa and Va, reducing thrombin generation and potentially leading to severe hemorrhagic manifestations.

Key Clinical Question: What is the bleeding profile of patients with this rare condition? What are the most frequent clinical signs, and how can they be treated?

Clinical Approach: We present a case study of an index patient with the C1611>A variant and his 20 family members.

In vitro combined haemostatic efficacy of emicizumab and extended half-life factor VIII compounds.

Introduction: Early prophylaxis is the gold standard of care for severe haemophilia. The development of subcutaneous Factor VIII (FVIII) mimetics, such as emicizumab, has significantly reduced the disease burden and improved protection against bleeding episodes. Despite its benefits, emicizumab does not fully normalize haemostasis, requiring additional FVIII treatment for surgical procedures and management of breakthrough bleeding.

Accurate evaluation of factor VIII activity of efanesoctocog alfa in the presence of emicizumab.

Background: Efanesoctocog is a B-domain-deleted, Fc-fusion factor (F)VIII linked to the D'D3 domain of von Willebrand factor and 2 XTEN polypeptides, designed for an ultra-extended half-life for prophylaxis in hemophilia A, but also aiding in managing acute bleeding or surgery in patients on long-term emicizumab. However, no current laboratory method accurately measures FVIII levels in the presence of emicizumab.

Objectives: To test whether the bovine chromogenic FVIII assay, specifically calibrated for efanesoctocog, could provide an accurate assessment of efanesoctocog activity.

Bleed treatment with eptacog beta (rFVIIa) results in a low incidence of rebleeding in adult and adolescent patients with haemophilia A or B with inhibitors.

Introduction: Eptacog beta is a novel human recombinant FVIIa approved for use in the United States, European Union, United Kingdom and Mexico for the treatment and control of bleeding in patients with haemophilia A or B with inhibitors (≥12 years). It is also indicated for perioperative care in the same patient population in Europe and the United Kingdom.

Aim: To assess the incidence of rebleeding and review treatment outcomes in subjects with haemophilia with inhibitors enrolled in the phase 3 PERSEPT 1 clinical trial.