PB0141 - Characterizing the transcriptomic profile of acquired hemophilia using RNA-seq

Sunday, June 25, 2023

18:30 – 19:30 ET

Room: Exhibition

Presenting Author(s)

Rares Drula, PhD (he/him/his)

Research Assistant
Iuliu Hatieganu University of Medicine and Pharmacy Cluj Napoca
Cluj napoca, Cluj, Romania

Co-Author(s)

MS

Maria Santa

PhD student
Iuliu Hatieganu University of Medicine and Pharmacy Cluj Napoca
Cluj Napoca, Cluj, Romania
ND

Noemi Dirzu

PhD student
Iuliu Hatieganu University of Medicine and Pharmacy Cluj Napoca
Cluj Napoca, Cluj, Romania
SP

Sergiu Pasca

Postdoctoral researcher
Iuliu Hatieganu University of Medicine and Pharmacy Cluj Napoca
Cluj Napoca, Cluj, Romania
AZ

Andreea Zimta

PhD student
Iuliu Hatieganu University of Medicine and Pharmacy Cluj Napoca
Cluj Napoca, Cluj, Romania
BT

Bogdan Tigu

Postdoctoral researcher
Iuliu Hatieganu University of Medicine and Pharmacy Cluj Napoca
Cluj Napoca, Cluj, Romania
DC

Diana Cenariu

Postdoctoral researcher
Iuliu Hatieganu University of Medicine and Pharmacy Cluj Napoca
Cluj Napoca, Cluj, Romania
DG

Diana Gulei

Postdoctoral researcher
Iuliu Hatieganu University of Medicine and Pharmacy Cluj Napoca
Cluj Napoca, Cluj, Romania
DD

Delia Dima

MD, PhD
Ion Chiricuta Oncology Institute
Cluj Napoca, Cluj, Romania

Co-Author(s)

CT

Ciprian Tomuleasa, MD

Associate Professor
Medfuture Research Center for Advanced Medicine - Hematology, Iuliu Hatieganu University of Medicine and Pharmacy Cluj Napoca, Romania
Cluj Napoca, Cluj, Romania

Background: Acquired hemophilia (AH) is a very rare bleeding disorder consisting of spontaneous bleeding alterations of coagulation processes occurring in patients with no previous hemophilic diagnosis. While classic hemophilia (CH) is associated with mutations in the clotting factor genes, AH has a primary autoimmune component. Most of the underlying mechanisms for the development of AH are largely unknown. As such, we aimed to characterize the differential transcriptomic profiles of AH patients in comparison with CH patients and healthy individuals using RNA-Seq.

Aims: Our aim was to highlight relevant differentially expressed transcripts associated with AH that might offer reliable biomarker candidates for predicting its development and, additionally, to provide insight regarding the altered pathways and factors.

Methods: We investigated the transcriptomic signatures in the RNA isolated from the plasma of AH patients (n=2), patients with different forms of CH (mild and severe, 3 each) and 2 healthy controls for reference. Data regarding dysregulated transcripts was clustered in heatmaps highlighting modifications at fold change level. Global comparison of the alterations were displayed in the form of volcano plots. A cutoff of fold change>2 was used to select the relevant differentially expressed transcripts.

Results: We identified and extensive subset of transcripts, both coding and non-coding (microRNAs) with differential expression levels for AH patients. Among them, we highlight HBAI1-201 - hemoglobin subunit alpha 1, as a specific upregulated transcript. We assume that it's upregulation might be an indicative of a compensatory physiological response to acute blood loss.

Conclusion(s): This is a preliminary study investigating the epigenetic events in AH and it's main limitation is the number of samples. Still, AH is very rare in occurrence and development, especially in patients without an underlying malignancy that might contribute to other specific alterations, and thus alter the global transcriptomic profile in a non-AH specific manner.