Haematological parameters in erythropoietic protoporphyria: A multi‐national study
Year: 2025
Type: article
Study design: Observational Study
Abstract: Erythropoietic protoporphyria (EPP) is a disorder of haem biosynthesis characterized by a reduction in ferrochelatase and subsequent accumulation of protoporphyrin IX. Haematological aberrations in EPP have been described, though they remain poorly understood. We present a detailed analysis of haematological parameters in EPP, drawing upon data from four large cohorts in the United States and Europe. We show an association between protoporphyrin levels and both platelet count and spleen size, and in a case-control analysis, we describe significant differences between haematological indices in EPP patients versus controls.
Source: British Journal of Haematology
DOI: 10.1111/bjh.20197
Authors: Rebecca K. Leaf, Andrea Ricci, Benny Tran, Elena Corradini, Antonello Pietrangelo, Camilla Mancini, Cinzia Garuti, Dario Saltini, Filippo Schepis, Ilja Kubisch, Nils Wohmann, Ulrich Stölzel, Paul Y. Jiang, Samuel Jang, Narmene Bensaber, Lina Rebeiz, Chenqing Wang, Elizabeth Buzney, John Trinidad, Karl E. Anderson, Staffan Wahlin, Paolo Ventura, Amy K. Dickey
Institutions: Harvard University, Massachusetts General Hospital, University of Modena and Reggio Emilia, Azienda Ospedaliero-Universitaria di Modena, ERN EuroBloodNet, ERN RARE-LIVER, Klinikum Chemnitz, Brigham and Women's Hospital, The University of Texas Medical Branch at Galveston, Karolinska University Hospital
Language: Italian
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W4411221314