| SOCHORCOVA, Lucie, Katarina HLUSICKOVA KAPRALOVA, Jana FIALOVÁ KUČEROVÁ, Dagmar POSPISILOVA, Daniela PROCHAZKOVA, Ondrej JAHODA, Simona KUREKOVA, Barbora KRALOVA, Martina DIVOKA, Jana NAVRATILOVA, Jirina MANAKOVA, Eva KRIEGOVA, Karel INDRAK, Edgar FABER, Vladimir DIVOKY and Monika HORVATHOVA. Elevated erythroferrone distinguishes erythrocytosis with inherited defects in oxygen-sensing pathway from primary familial and congenital polycythaemia. British journal of haematology. Hoboken: Wiley-Blackwell, 2023, vol. 202, No 3, p. 674-685. ISSN 0007-1048. Available from: https://dx.doi.org/10.1111/bjh.18891. |
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@article{2379083,
author = {Sochorcova, Lucie and Hlusickova Kapralova, Katarina and Fialová Kučerová, Jana and Pospisilova, Dagmar and Prochazkova, Daniela and Jahoda, Ondrej and Kurekova, Simona and Kralova, Barbora and Divoka, Martina and Navratilova, Jana and Manakova, Jirina and Kriegova, Eva and Indrak, Karel and Faber, Edgar and Divoky, Vladimir and Horvathova, Monika},
article_location = {Hoboken},
article_number = {3},
doi = {http://dx.doi.org/10.1111/bjh.18891},
keywords = {EPOR; erythrocytosis; erythroferrone; hepcidin; VHL},
language = {eng},
issn = {0007-1048},
journal = {British journal of haematology},
title = {Elevated erythroferrone distinguishes erythrocytosis with inherited defects in oxygen-sensing pathway from primary familial and congenital polycythaemia},
url = {https://onlinelibrary.wiley.com/doi/10.1111/bjh.18891},
volume = {202},
year = {2023}
}
TY - JOUR
ID - 2379083
AU - Sochorcova, Lucie - Hlusickova Kapralova, Katarina - Fialová Kučerová, Jana - Pospisilova, Dagmar - Prochazkova, Daniela - Jahoda, Ondrej - Kurekova, Simona - Kralova, Barbora - Divoka, Martina - Navratilova, Jana - Manakova, Jirina - Kriegova, Eva - Indrak, Karel - Faber, Edgar - Divoky, Vladimir - Horvathova, Monika
PY - 2023
TI - Elevated erythroferrone distinguishes erythrocytosis with inherited defects in oxygen-sensing pathway from primary familial and congenital polycythaemia
JF - British journal of haematology
VL - 202
IS - 3
SP - 674-685
EP - 674-685
PB - Wiley-Blackwell
SN - 00071048
KW - EPOR
KW - erythrocytosis
KW - erythroferrone
KW - hepcidin
KW - VHL
UR - https://onlinelibrary.wiley.com/doi/10.1111/bjh.18891
N2 - Congenital erythrocytoses represent a heterogenous group of rare defects of erythropoiesis characterized by elevated erythrocyte mass. We performed molecular-genetic analysis of 21 Czech patients with congenital erythrocytosis and assessed the mutual link between chronic erythrocyte overproduction and iron homoeostasis. Causative mutations in erythropoietin receptor (EPOR), hypoxia-inducible factor 2 alpha (HIF2A) or Von Hippel-Lindau (VHL) genes were detected in nine patients, including a novel p.A421Cfs*4 EPOR and a homozygous intronic c.340+770T>C VHL mutation. The association and possible cooperation of five identified missense germline EPOR or Janus kinase 2 (JAK2) variants with other genetic/non-genetic factors in erythrocytosis manifestation may involve variants of Piezo-type mechanosensitive ion channel component 1 (PIEZO1) or Ten-eleven translocation 2 (TET2), but this requires further research. In two families, hepcidin levels appeared to prevent or promote phenotypic expression of the disease. No major contribution of heterozygous haemochromatosis gene (HFE) mutations to the erythrocytic phenotype or hepcidin levels was observed in our cohort. VHL- and HIF2A-mutant erythrocytosis showed increased erythroferrone and suppressed hepcidin, whereas no overproduction of erythroferrone was detected in other patients regardless of molecular defect, age or therapy. Understanding the interplay between iron metabolism and erythropoiesis in different subgroups of congenital erythrocytosis may improve current treatment options.
ER -
SOCHORCOVA, Lucie, Katarina HLUSICKOVA KAPRALOVA, Jana FIALOVÁ KUČEROVÁ, Dagmar POSPISILOVA, Daniela PROCHAZKOVA, Ondrej JAHODA, Simona KUREKOVA, Barbora KRALOVA, Martina DIVOKA, Jana NAVRATILOVA, Jirina MANAKOVA, Eva KRIEGOVA, Karel INDRAK, Edgar FABER, Vladimir DIVOKY and Monika HORVATHOVA. Elevated erythroferrone distinguishes erythrocytosis with inherited defects in oxygen-sensing pathway from primary familial and congenital polycythaemia. \textit{British journal of haematology}. Hoboken: Wiley-Blackwell, 2023, vol.~202, No~3, p.~674-685. ISSN~0007-1048. Available from: https://dx.doi.org/10.1111/bjh.18891.
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