THE MOST COMMON U.S. GENETIC DISORDER, IRON OVERLOAD (HEMOCHROMATOSIS): A CURABLE CONDITION WHICH MAIMS AND KILLS MILLIONS DUE TO INADEQUATE DIAGNOSIS AND/OR THERAPY.

CV# 809A. Herbert V. The most common U.S. genetic disorder, iron overload (hemochromatosis) : A curable condition which maims and kills millions due to inadequate diagnosis and/or therapy. FASEB J, March, 1999: 13 (4) page A698.

THE MOST COMMON U.S. GENETIC DISORDER, IRON OVERLOAD (HEMOCHROMATOSIS): A CURABLE CONDITION WHICH MAIMS AND KILLS MILLIONS DUE TO INADEQUATE DIAGNOSIS AND/OR THERAPY. V Herbert. Mount Sinai & Bronx VA Med Ctrs, NYC, NY 10468.

As recently reviewed (V Herbert. Am J Hemat 59 (3): 261-3, 1998), about 12% of Americans have heterozygous hemochromatosis (H) and about 1% have homozygous hemochromatosis (HH). H enhances iron absorption by 50%; HH by 300%. In 15% with iron overload disease (i.e. the phenotype, with serum transferrin saturation >45% and serum ferritin protein >200), the currently isolated relevant gene (i.e. the genotype) is not found. The phenotype is the disease; the genotype is predisposition to the disease. The disease is worsened by enhancers of iron absorption such as vitamin C supplements and alcohol. Opposing genes make harmless H or HH genes in the 15% who also have the opposers (RJ Wood, O Han. J Nutr l28: 1841-4, 1998). Most physicians do not measure iron status in their routine panel of blood tests on each new patient, and thus fail to timely commence curative therapy by frequent phlebotomies. Undiagnosed patients proceed to iron-overload-produced organ damage (sterility, arthritis, diabetes, cardiomyopathy, damaged liver, liver cancer, etc.). Many are not diagnosed until autopsy shows black organs. Universal serum screening for the phenotype will prevent these tragedies, and the millions of annual units of healthy blood from these phenotypes will obliterate annual US donor blood shortages (V Herbert. vide supra). The new serum ferritin-iron assay will improve diagnosis by measuring atoms of iron per molecule of ferritin protein (low in inflammation, high in overload) (V Herbert et al. Stem Cells 15; 291-6: 1997).