Elevated erythroferrone distinguishes erythrocytosis with
inherited defects in oxygen-sensing pathway from primary
familial and congenital polycythaemia

J 2023

Elevated erythroferrone distinguishes erythrocytosis with inherited defects in oxygen-sensing pathway from primary familial and congenital polycythaemia

SOCHORCOVA, Lucie, Katarina HLUSICKOVA KAPRALOVA, Jana FIALOVÁ KUČEROVÁ, Dagmar POSPISILOVA, Daniela PROCHAZKOVA et. al.

Základní údaje

Originální název

Elevated erythroferrone distinguishes erythrocytosis with inherited defects in oxygen-sensing pathway from primary familial and congenital polycythaemia

Autoři

SOCHORCOVA, Lucie (203 Česká republika), Katarina HLUSICKOVA KAPRALOVA (203 Česká republika), Jana FIALOVÁ KUČEROVÁ (203 Česká republika, domácí), Dagmar POSPISILOVA (203 Česká republika), Daniela PROCHAZKOVA (203 Česká republika), Ondrej JAHODA (203 Česká republika), Simona KUREKOVA (203 Česká republika), Barbora KRALOVA (203 Česká republika), Martina DIVOKA (203 Česká republika), Jana NAVRATILOVA (203 Česká republika), Jirina MANAKOVA (203 Česká republika), Eva KRIEGOVA (203 Česká republika), Karel INDRAK (203 Česká republika), Edgar FABER (203 Česká republika), Vladimir DIVOKY (203 Česká republika) a Monika HORVATHOVA (203 Česká republika)

Vydání

British journal of haematology, Hoboken, Wiley-Blackwell, 2023, 0007-1048

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30205 Hematology

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 6.500 v roce 2022

Kód RIV

RIV/00216224:14110/23:00133658

Organizační jednotka

Lékařská fakulta

DOI

http://dx.doi.org/10.1111/bjh.18891

UT WoS

000996117400001

Klíčová slova anglicky

EPOR; erythrocytosis; erythroferrone; hepcidin; VHL

Štítky

14110518, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 27. 2. 2024 13:00, Mgr. Tereza Miškechová

Anotace

V originále

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.

Citovat

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 a 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, roč. 202, č. 3, s. 674-685. ISSN 0007-1048. Dostupné z: https://dx.doi.org/10.1111/bjh.18891.

@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 a 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, roč.~202, č.~3, s.~674-685. ISSN~0007-1048. Dostupné z: https://dx.doi.org/10.1111/bjh.18891.

Podrobný výpis o publikaci