What is the prevalence of genetic mutations?
Study #1: Prevalence of C282Y and H63D Mutations in HFE in the U.S., Steinberg, et al, JAMA 285(17): 2216-2222. The purpose of this study was to estimate the prevalence of the two most common genetic mutations seen in hemochromatosis. It was a cross-sectional population-based study of samples in the DNA bank from phase 2 of NHANES III. Previous prevalence estimates have been performed but used smaller samples or samples that were not representative of the general population. In this study, 5171 specimens were genotyped using PCR. Patients who were younger than 12 years old, pregnant, or who listed other as their race/ethnicity were excluded. Results were as follows: HFE Genotype Prevalence Estimate C282Y/C282Y 0.26 H63D/H63D 1.89 C282Y/H63D 1.97 C282Y/WT 8.33 H63D/WT 21.36 WT/WT 66.20 C282Y homozygosity is estimated to be present in 1 in 385 according to this study which is within previously published estimates of 1 in 200 to 1 in 500. There were no significant differences found in pre
