Conditions / Genetic
familial erythrocytosis 1
info · Genetic · ICD-10: D75.0
A primary polycythemia that has_material_basis_in mutation in the gene encoding the erythropoietin receptor. It is characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO, and low seru
A primary polycythemia that has_material_basis_in mutation in the gene encoding the erythropoietin receptor. It is characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO, and low serum levels of EPO.
Signs and symptoms
- Increased circulating hemoglobin concentration
- Increased hematocrit
- Cerebral hemorrhage
- Peripheral thrombosis
- Vertigo
- Plethora
- Fatigue
- Hypertension
- Myocardial infarction
- Headache
Also known as: ECYT1; autosomal dominant benign erythrocytosis; primary familial and congenital polycythemia