Erythrocytosis associated with EPAS1(HIF2A), EGLN1(PHD2), VHL, EPOR or BPGM mutations: The Mayo Clinic experience

Haematologica. 2022 May 1;107(5):1201-1204. doi: 10.3324/haematol.2021.280516.

Authors

Naseema Gangat¹, Jennifer L Oliveira², Tavanna R Porter², James D Hoyer², Aref Al-Kali³, Mrinal M Patnaik³, Animesh Pardanani³, Ayalew Tefferi⁴

Affiliations

¹ Division of Hematology, Department of Internal Medicine, Mayo Clinic, Rochester, MN. gangat.naseema@mayo.edu.
² Division of Hematopathology, Department of Laboratory Medicine, Mayo Clinic, Rochester, MN.
³ Division of Hematology, Department of Internal Medicine, Mayo Clinic, Rochester, MN.
⁴ Division of Hematology, Department of Internal Medicine, Mayo Clinic, Rochester, MN. tefferi.ayalew@mayo.edu.

No abstract available

MeSH terms

Basic Helix-Loop-Helix Transcription Factors / genetics
Humans
Hypoxia-Inducible Factor-Proline Dioxygenases / genetics
Mutation
Polycythemia* / complications
Polycythemia* / diagnosis
Polycythemia* / genetics
Receptors, Erythropoietin / genetics
Von Hippel-Lindau Tumor Suppressor Protein / genetics

Substances

Basic Helix-Loop-Helix Transcription Factors
Receptors, Erythropoietin
EGLN1 protein, human
Hypoxia-Inducible Factor-Proline Dioxygenases
Von Hippel-Lindau Tumor Suppressor Protein
VHL protein, human