Article
Elevated erythroferrone distinguishes erythrocytosis with inherited defects in oxygen-sensing pathway from primary familial and congenital polycythaemia.
British journal of haematology - 1 Aug 2023
Sochorcova Lucie, Hlusickova Kapralova Katarina, Fialova Kucerova 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
Abstract excerpt
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...
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