Abstract Number: PB1143
Meeting: ISTH 2022 Congress
Theme: Hemophilia and Rare Bleeding Disorders » Hemophilia - Clinical
Background: Hemophilia A (HA) is a rare bleeding disorder caused by factor VIII (FVIII) deficiency due to mutations in the F8 gene. Disease severity inversely correlates with plasma FVIII (FVIII:C) concentration. Unaccountably, a subgroup of severe HA patients scarcely bleed and do not require prophylactic FVIII administration, while moderate HA patients bleed frequently, despite their FVIII:C levels.
Aims: To evaluate the capacity of the ST Genesia® Thrombin Generation System (TGT) to ascertain the hemostatic status of the entire cohort of HA outpatients, treated and non- bleeding, in Asturias (Spain) and to compare it with FVIII performance.
Methods: We recruited 55 HA patients (18 severe, 7 moderate and 30 mild; FVIII:C < 40%) following treatment and without inhibitors, and 25 healthy controls. HA patients were monitored assessing FVIII activity (and vWF levels) at diagnosis and follow-up, and screened for F8 mutations. The TGT BleedScreen was evaluated during follow-up.
Results: Patients with severe/moderate HA had lower FVIII:C at diagnosis and a higher annual bleeding rate (ABR) than mild HA patients (P < 0.001) (Table 1). Importantly, on the day of the TGT and despite having lower FVIII:C, severe/moderate patients had a similar thrombin potential than mild patients, reflecting better the non-bleeding phase of our patient cohort (Figure 1). Additionally, a correlation of the F8 mutation type was observed with HA severity, ABR and hemostatic status.
Conclusion(s): The hemostatic status of HA patients measured with ST Genesia® correlates more precisely with their bleeding risk than classical FVIII:C. The F8 mutation type may indicate a worse prognosis, higher ABR and worse hemostatic status. The TGT may represent a more suitable tool than classical FVIII:C determination to identify HA patients that may require a closer follow-up and a tailored therapeutic adjustment in high-risk situations. MINECO (RYC-2013-12587), MICIU (SAF2017-85489-P), Roche (SP200221001), GVA (ACIF/2017/138) and Sociedad Española de Trombosis y Hemostasia.
To cite this abstract in AMA style:
Bernardo A, Soto I, Gutiérrez L, Caro A, Martínez-Carballeira D, Corte Buelga J, Vázquez S, Palomo-Antequera C, Andreu A, Fernández-Pardo A, Oto J, Medina P. The Thrombin Generation Test represents a better tool than Factor VIII levels to assess the risk of bleedings in patients with hemophilia A [abstract]. https://abstracts.isth.org/abstract/the-thrombin-generation-test-represents-a-better-tool-than-factor-viii-levels-to-assess-the-risk-of-bleedings-in-patients-with-hemophilia-a/. Accessed September 22, 2023.« Back to ISTH 2022 Congress
ISTH Congress Abstracts - https://abstracts.isth.org/abstract/the-thrombin-generation-test-represents-a-better-tool-than-factor-viii-levels-to-assess-the-risk-of-bleedings-in-patients-with-hemophilia-a/