Familial erythrocytosis, 1: A rare genetic blood disorder resulting in an increased red blood cell count. The genetic mutation occurs on the erythropoietin gene on chromosome 19p13.3-p13.2.
The list of signs and symptoms mentioned in various sources for Familial erythrocytosis, 1 includes the 4 symptoms listed below: * Increased red blood cell count * Increased hemoglobin concentration * Low serum erythropoietin level * Headache
POLYCYTHEMIA: DIAGNOSTIC WORKUP (Algorithmic Diagnosis of Symptoms and Signs) In addition to blood gas analysis, blood volume studies, CBC, platelet count, chemistry panel, urinalysis, and sedimentation rate, most patients should have an IVP and pulmonary function tests and a chest x-ray. A hematology consult would be wise before undertaking any of the more expensive studies.