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