Primary familial polycythemia due to EPO receptor mutation

MONDO:0007572

Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels.

Also known as: EPOR familial polycythemia, PFCP, congenital erythrocytosis due to erythropoietin receptor mutation, congenital polycythemia due to erythropoietin receptor mutation, erythrocytosis, familial, 1, erythrocytosis, familial, type 1, erythrocytosis, somatic, familial erythrocytosis

1 clinical trial for this condition and its sub-types, 0 tagged with Primary familial polycythemia due to EPO receptor mutation itself.

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↑ Familial polycythemia (92)

Including sub-types (1) Tagged with Primary familial polycythemia due to EPO receptor mutation (0)

Completed 1

Breath test could replace needles for blood disorder diagnosis

Diagnosis Completed

This study tested a non-invasive breathing technique (CO-rebreathing) to measure red blood cell mass in people with polycythemia, a condition with too many red blood cells. The goal was to see if it works as well as the standard radioactive test. Sixty adults took part, and the r…

Sponsor: Centre Hospitalier Universitaire, Amiens • Aim: Diagnosis

Last updated Jun 26, 2026 19:07 UTC

Primary familial polycythemia due to EPO receptor mutation

Where it sits in the disease tree

Breath test could replace needles for blood disorder diagnosis