Elevated mean corpuscular volume in patients with hereditary hemochromatosis

Abstract

Previous studies have reported that patients with hereditary hemochromatosis have higher red cell volumes than normal controls. We studied the relationship of mean corpuscular volume (MCV) at diagnosis versus serum transferrin saturation (Tfsat), serum ferritin level (SF), phlebotomy-mobilizable iron (Mob Fe) stores, and HFE genotype in our patients. The study population included 227 patients. One hundred forty-two of 227 were homozygous for C282Y; the mean MCV of this group was 94.9 fL (control group, 89.2 fL; p < 0.001). Among all patients with Mob Fe greater than 4 g, the mean MCV was 94.9 fL (significantly greater than control, p < 0.001). Among C282Y homozygous individuals, there was no significant correlation between the MCV versus Tfsat, SF, and Mob Fe (r = 0.07, 0.207, and −0.005, respectively). In patients with Mob Fe greater than 4 g who were not C282Y homozygous, there was weak correlation between the MCV versus Tfsat and SF (r = 0.35 and 0.31, respectively) and no significant correlation versus Mob Fe (r = 0.06). Our study confirms the presence of elevated MCV levels in C282Y homozygous individuals as well as those with elevated Mob Fe. For the most part, the elevated MCV did not correlate with measures of body iron stores.