Ontology highlight
ABSTRACT:
SUBMITTER: Vocanec D
PROVIDER: S-EPMC7379665 | biostudies-literature | 2019 Apr
REPOSITORIES: biostudies-literature
Vočanec Danijela D Prijatelj Tinkara T Debeljak Nataša N Kunej Tanja T
International journal of laboratory hematology 20181203 2
<h4>Objectives</h4>Erythrocytosis is characterized by the expansion of erythrocyte compartment including elevated red blood cell number, hematocrit, and hemoglobin content. Familial erythrocytosis (FE) is a congenital disorder with different genetic background. Type 1 FE is primary FE caused by mutation in erythropoietin receptor gene (EPOR). Type 2-5 FE are secondary FEs caused by mutations of genes involved in oxygen sensing pathway important for erythropoietin (EPO) regulation. In the present ...[more]