Original Articles
Vol. 16 No. 1 (2024): Review Articles, Original Article, Scientific Letter, Case Reports Letter to the Editor
https://doi.org/10.4084/MJHID.2024.021

COEXISTENCE OF MULTIPLE GENE VARIANTS IN SOME PATIENTS WITH ERYTHROCYTOSES

Multiple gene variants in erythrocytosis

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Received: November 3, 2023
Accepted: February 9, 2024
Published: February 29, 2024
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Next Generation Sequencing, Germline Variant, Erythrocytosis, Iron Metabolism

Authors

Andrea Benetti
First Medical Clinic, Department of Medicine – DIMED, University of Padova, Italy.
Irene Bertozzi, PhD, MD
First Medical Clinic, Department of Medicine – DIMED, University of Padova, Italy.
Giulio Ceolotto
Emergency Medicine, Department of Medicine – DIMED, University of Padova, Italy.
Irene Cortella
First Medical Clinic, Department of Medicine – DIMED, University of Padova, Italy.
Daniela Regazzo
First Medical Clinic, Department of Medicine – DIMED, University of Padova, Italy.
Giacomo Biagetti
First Medical Clinic, Department of Medicine – DIMED, University of Padova, Jamaica.
Elisabetta Cosi
First Medical Clinic, Department of Medicine – DIMED, University of Padova, Italy.
Maria Luigia Randi, MD, Prof
marialuigia.randi@unipd.it
First Medical Clinic, Department of Medicine – DIMED, University of Padova, Italy.

Background: Erythrocytosis is a relatively common condition, however a large proportion of these patients (70%) remain without a clear etiologic explanation. 

Methods: We set up a targeted NGS panel for patients with erythrocytosis and 118 sporadic patients with idiopathic erythrocytosis were studied.

Results: In 40 (34%) patients no variant was found while in 78 (66%) we identified at least one germinal variant; 55 patients (70.5%) had 1 altered gene, 18 (23%) had 2 alterations, and 5 (6.4%) had 3. An altered HFE gene was observed in 51 cases (57.1%), EGLN1 in 18 (22.6%) and EPAS1, EPOR, JAK2, and TFR2 variants in 7.7%, 10.3%, 11.5%, and 14.1% patients, respectively. In 23 patients (19.45%), more than 1 putative variant was found in multiple genes.

Conclusions: Genetic variants in patients with erythrocytosis were detected in about 2/3 of our cohort. A NGS panel including more candidate genes should reduce the number of cases diagnosed as “idiopathic” erythrocytosis in whom a cause cannot yet be identified. It is known that HFE variants are common in idiopathic erythrocytosis. TFR2 alterations supports the existence of a relationship between genes involved in iron metabolism and impaired erythropoiesis. Some novel multiple variants were identified. Erythrocytosis appears to be often of multigenic nature.  

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“COEXISTENCE OF MULTIPLE GENE VARIANTS IN SOME PATIENTS WITH ERYTHROCYTOSES: Multiple gene variants in erythrocytosis” (2024) Mediterranean Journal of Hematology and Infectious Diseases, 16(1), p. e2024021. doi:10.4084/MJHID.2024.021.
Copyright (c) 2024 Andrea Benetti, Irene Bertozzi, PhD, MD, Giulio Ceolotto, Irene Cortella, Daniela Regazzo, Giacomo Biagetti, Elisabetta Cosi, Maria Luigia Randi, MD, Prof Creative Commons License

This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.