PO11 - Evaluating the presence of Acquired Hemophilia A in a Romanian cohort

Wednesday, June 26, 2024

13:00 – 14:00 ICT

Presenting Author(s)

Adrian Bogdan Tigu, Dr

Research Scientist
Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania
Cluj-Napoca, Cluj, Romania

Co-Author(s)

SP

Simina Pirv

Biologist
Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania
Cluj-Napoca, Cluj, Romania
DC

Diana Cenariu

Researcher
Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania
Cluj-Napoca, Cluj, Romania
DA

Daniel Andrei

PhD
Romanian Hemophilia Association
Cluj-Napoca, Cluj, Romania
DD

Delia Dima

MD
Department of Hematology, Ion Chiricuta Clinical Cancer Center, Cluj Napoca, Romania
Cluj-Napoca, Cluj, Romania
CT

Ciprian Tomuleasa

MD
Department of Hematology, Ion Chiricuta Clinical Cancer Center, Cluj Napoca, Romania
Cluj-Napoca, Cluj, Romania

Background: Acquired Hemophilia A (AHA) is a rare bleeding disorder caused by autoantibodies against factor VIII (FVIII). AHA affects elderly people, but it was observed in children and postpartum period. In 50% of the cases AHA is idiopathic and most of the time is associated with autoimmune diseases, infections, and malignancies.

Aims: Studying the FVIII gene, which involves assessing the secretion levels of coagulation factor and conducting genetic evaluations, could unveil a potential pattern of Acquired Hemophilia A (AHA) within the Romanian population. This research may pave the way for targeted treatments for individuals requiring intervention. Furthermore, we aim to establish a mutational pattern in the Romanian cohort.

Methods: A cohort of 50 patients was established and the whole blood was collected on sodium citrate. The FVIII plasma concentration was determined by a routine analysis, then the patients which had abnormal levels of FVIII were selected for further analysis. FVIII gene was analyzed by Sanger sequencing and the inversions in Intros 22 and 1 were assessed by a long-distance PCR analysis.

Results: This approach uncovered the genetic variations, mutations and polymorphisms with the FVIII gene that could be responsible for the development of AHA. The focus on genetic analysis provides insights into the hereditary factors associated with AHA within the Romanian population.

Conclusion(s): A potential patter in the mutational status of the FVIII gene in the Romanian population could be established by extending the cohort.