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. 2025 Jun 10:10.1111/bjh.20197.
doi: 10.1111/bjh.20197. Online ahead of print.

Haematological parameters in erythropoietic protoporphyria: A multi-national study

Rebecca K Leaf  1   2 , Andrea Ricci  3   4   5 , Benny Tran  6 , Elena Corradini  3   4   5 , Antonello Pietrangelo  3   4   5 , Camilla Mancini  3 , Cinzia Garuti  3 , Dario Saltini  5   7 , Filippo Schepis  5   7 , Ilja Kubisch  8 , Nils Wohmann  8 , Ulrich Stölzel  8 , Paul Y Jiang  6 , Samuel Jang  2   9 , Narmene Bensaber  6 , Lina Rebeiz  6 , Chenqing Wang  6 , Elizabeth Buzney  2   10 , John Trinidad  2   11 , Karl E Anderson  12 , Staffan Wahlin  4   5   13 , Paolo Ventura  3   4   5 , Amy K Dickey  2   6
Affiliations

Haematological parameters in erythropoietic protoporphyria: A multi-national study

Rebecca K Leaf et al. Br J Haematol. .

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.

Keywords: EPP; haem biosynthesis; iron metabolism; porphyria.

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Conflict of interest statement

RKL is a consultant for Alnylam Pharmaceutics and Recordati Pharmaceuticals and has received grant funding from Disc Medicine. AR has received support to attend meetings from Alnylam Pharmaceuticals. IK has received consulting fees, support to attend meetings, and honoraria from Alnylam Pharmaceuticals. US has been an investigator in clinical research studies funded by Alnylam Pharma and Clinuvel Pharmaceuticals and has served as a consultant for Disc Medicine. KEA receives lecture fees, consulting fees, advisory board fees, and grants to UTMB from Alnylam Pharma, consulting fees, advisory board fees, and grants from Recordati Pharma, and consulting fees and grants from Mitsubishi Tanabe Pharma and Disc Medicine. SW has received grant funding from Alnylam and has participated in advisory boards for Disc Medicine. PV has received consulting fees, support to attend meetings, and honoraria from Alnylam Pharmaceuticals and Recordati Rare diseases, and has participated in an advisory board for Alnylam Pharmaceuticals. AKD is a consultant and has received speaker honorariums from Alnylam Pharmaceuticals and Recordati Pharmaceuticals and grant funding from Disc Medicine and Mitsubishi Tanabe.

References

    1. Leaf RK, Dickey AK. How I treat erythropoietic protoporphyria and X-linked protoporphyria. Blood [Internet]. 2023. Jun 15 [cited 2024 Dec 19];141(24):2921–31. Available from: 10.1182/blood.2022018688 - DOI - PMC - PubMed
    1. Raef HS, Rebeiz L, Leaf RK, Hughes O, Jiang P, Elseht A, et al. Light-Related Cutaneous Symptoms of Erythropoietic Protoporphyria and Associations With Light Sensitivity Measurements. JAMA Dermatol [Internet]. 2023. Feb 1 [cited 2025 Apr 13];159(2):204–8. Available from: https://jamanetwork.com/journals/jamadermatology/fullarticle/2800239 - PMC - PubMed
    1. Granata F, Duca L, Brancaleoni V, Fustinoni S, De Luca G, Motta I, et al. Alternative Pathway Involvement in Protoporphyria Patients Related to Sun Exposure. Front Immunol. 2021. Feb 16;12. - PMC - PubMed
    1. Gouya L, Martin-Schmitt C, Robreau AM, Austerlitz F, Da Silva V, Brun P, et al. Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria. Am J Hum Genet [Internet]. 2006. [cited 2024 Nov 20];78(1):2–14. Available from: https://pubmed.ncbi.nlm.nih.gov/16385445/ - PMC - PubMed
    1. Gou EW, Balwani M, Bissell DM, Bloomer JR, Bonkovsky HL, Desnick RJ, et al. Pitfalls in Erythrocyte Protoporphyrin Measurement for Diagnosis and Monitoring of Protoporphyrias. Clin Chem [Internet]. 2015. Dec 1 [cited 2024 Nov 20];61(12):1453–6. Available from: https://pubmed.ncbi.nlm.nih.gov/26482161/ - PMC - PubMed

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