Background
Hereditary Hemochromatosis is an autosomal recessive disease characterized by increased intestinal absorption of iron, leading to excessive iron deposition in various organs and tissues. It is caused by a mutation in the HFE gene. The two most common HFE gene mutations are C282Y and H63D. 80-90% of patients are homozygous for C282Y mutation, with heterozygosity for C282Y and H63D being the second most common.1
Polycythemia Vera is a myeloproliferative disorder characterized by clonal proliferation of the myeloid cell line. JAK2 mutation is proposed to be the cause in 95% of patients.2 Polycythemia Vera increases the risk of thrombotic events with estimates that 34-39% of patients have major thrombotic events at the time of diagnosis. Thrombosis can sometimes involve the portal, hepatic (Budd-Chiari Syndrome), splenic and mesenteric veins.3