Variant analysis and biochemical investigation in two siblings with late onset idiopathic secondary erythrocytosis: A case report
These findings suggest that red blood cells from BI and BII are more resistant to hemolysis. However, given that PIGV is involved in glycosylphosphatidylinositol biosynthesis and that CD59 exposure affects hemolysis, further investigation is required to elucidate these pathogenic mechanisms. Molecular and biochemical characterization of patients with idiopathic SE may pave the way for identifying novel mechanisms involved in the disease.
Authors
- Chiara Marraccini (ORCID: https://orcid.org/0000-0002-8053-498X)
- Gaia Gavioli (ORCID: https://orcid.org/0000-0002-0566-3028)
- Erminia Di Bartolomeo (ORCID: https://orcid.org/0000-0001-6001-5843)
- Roberto Baricchi (ORCID: https://orcid.org/0000-0002-1658-0666)
- Beatrice Melli (ORCID: https://orcid.org/0000-0003-1366-2081)
- Agnese Razzoli (ORCID: https://orcid.org/0000-0002-8347-9605)
- N. Gamal (ORCID: https://orcid.org/0000-0003-1856-1730)
- Laura Albertazzi
- Enrico Farnetti (ORCID: https://orcid.org/0000-0002-7858-1867)
- Vincenza Ylenia Cusenza (ORCID: https://orcid.org/0000-0002-4958-0419)
- Lucia Merolle (ORCID: https://orcid.org/0000-0001-5712-4272)
- Davide Nicoli (ORCID: https://orcid.org/0009-0000-6881-0366)
- Davide Schiroli (ORCID: https://orcid.org/0000-0001-7639-0015)
- Margherita Genitoni
Institutions
- University of Modena and Reggio Emilia (IT)
- Azienda Sanitaria Unità Locale di Reggio Emilia (IT)
Publication Details
- Journal
- Medicine
- Published
- 2025-12-19
- DOI
- https://doi.org/10.1097/md.0000000000046424
- Primary Topic
- Erythrocyte Function and Pathophysiology
- Type
- article
- Field-Weighted Citation Impact
- 0.00