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.