Discussion
Initially, it was thought that there is no association between Polycythemia Vera and Hereditary Hemochromatosis. In 2002, a study analyzed C282Y and H63D mutations in 232 patients with different hematological disorders and found no significant associations, particularly with Polycythemia Vera.5 In 2004, another study analyzed 52 patients with Polycythemia Vera for Hereditary Hemochromatosis and found no association between both conditions.6 However, in 2016, a case report was published detailing an association found between Hereditary Hemochromatosis and Polycythemia Vera in a 75-year-old female. The patient had a past history of Hereditary Hemochromatosis and was receiving phlebotomies for 15 years. Upon presentation to cancer clinic, she was found to have elevated hemoglobin, low erythropoietin and ultimately, tested positive for JAK2 mutation.
To our knowledge, this is the second reported association between Polycythemia Vera and Hereditary Hemochromatosis after the one reported in 2016.7 While Hereditary Hemochromatosis and Polycythemia Vera seem to be unrelated, this case provides the basis that such conditions can co-exist, which may lead to drastic complications in care management. As a result, we recommend that patients with Polycythemia Vera be screened for Hereditary Hemochromatosis and vice versa. This case report highlights the crucial role of maintaining clinical suspicion for Hereditary Hemochromatosis in patients with Polycythemia Vera.