Article
Iron homeostasis governs erythroid phenotype in polycythemia vera.
Blood - 29 Jun 2023
Bennett Cavan, Jackson Victoria E, Pettikiriarachchi Anne, Hayman Thomas, Schaeper Ute, Moir-Meyer Gemma, Fielding Katherine, Ataide Ricardo, Clucas Danielle, Baldi Andrew, Garnham Alexandra L, Li-Wai-Suen Connie S N, Loughran Stephen J, Baxter E Joanna, Green Anthony R, Alexander Warren S, Bahlo Melanie, Burbury Kate, Ng Ashley P, Pasricha Sant-Rayn
Abstract excerpt
Polycythemia vera (PV) is a myeloproliferative neoplasm driven by activating mutations in JAK2 that result in unrestrained erythrocyte production, increasing patients' hematocrit and hemoglobin concentrations, placing them at risk of life-threatening thrombotic events. Our genome-wide association study of 440 PV cases and 403 351 controls using UK Biobank data showed that single nucleotide polymorphisms in HFE...
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