Case Report
This is a case report of a 59-year-old male who presented with chest, back and leg pain in 2016. He denied fever, night sweats, loss of weight or loss of appetite. Physical examination was unremarkable. CBC showed a hemoglobin of 18.2 g/dl, hematocrit of 54.2%, RBC count of 6.13 X 1012/L, MCV of 88.5 fl, and platelet count of 456 x109/L. Erythropoietin was 3.2 IU/L which is within the normal range, and peripheral blood smear showed normal morphology. JAK2 mutation was sent, and results came back positive. The patient was then diagnosed with JAK2-positive Polycythemia Vera according to the WHO Diagnostic Criteria for Polycythemia Vera.4 He was then started on phlebotomy and aspirin therapy. However, the patient was also found to have a ferritin of 603 ug/L, iron of 48.5 umol/L, and iron saturation 83%. Subsequently, genetic testing was sent for HFE gene mutation, and the patient was found to be positive for heterozygous C282Y mutation. The patient was also found to have a strong family history for Hereditary Hemochromatosis in one brother and two sisters.
Ultimately, he was diagnosed with both Polycythemia Vera and Hereditary Hemochromatosis. He was then recommended to continue aspirin and phlebotomy to maintain a hematocrit value below 45%. Cytoreductive therapy with hydroxyurea was not required because the patient had low risk for thrombotic events because of his relatively young age and absence of prior history of thrombotic events.