An excessive number of red blood cells can increase the viscosity of the blood, making it harder to move through the blood vessels and raising blood pressure. This can cause headaches, especially in the morning or after physical activity.

An increased number of red blood cells can cause the spleen to enlarge, causing discomfort and pain in the upper abdominal area. In patients with this disease, hemoglobin and hematocrit (the percentage of red blood cells in the total blood volume) levels are significantly elevated, which can affect blood concentration and blood properties.

Increased blood viscosity makes it difficult for oxygen to reach the tissues, which can cause feelings of weakness and fatigue. The skin may take on a reddish hue due to an increase in red blood cells.

Premature or hypoxic neonates may develop transient polycythemia. In the primary condition, mutation of the JAK2 gene leads to excessive production of red blood cells.

A secondary condition develops when the excessive red blood cell count is due to some other disease or factor such as chronic obstructive pulmonary disease, sleep apnea, cancer, kidney cysts, taking androgens, or even prolonged exposure to high altitudes.

Diagnosis at MDI Clinic

The physician begins gathering information about the patient’s medical and family history. This includes symptoms, duration of symptoms, risk factors and heredity. Physical examination may reveal signs such as reddened skin, enlarged spleen, and high blood pressure.

Blood tests assess hemoglobin levels, hematocrit, and red blood cell concentration. Elevated values may prompt the physician to suspect polycythemia.

Diagnosis of a secondary condition may require genetic testing to detect mutations in genes responsible for regulating red blood cell production, such as the JAK2 gene.

An enlarged spleen can be detected with an ultrasound scan. An electrocardiogram is performed to evaluate the heart and to detect signs of cardiac overload, which may be a consequence of the disease. Arterial gasometry assesses blood oxygen and carbon dioxide levels, which can be useful in assessing oxygen metabolism and the patient’s condition.