Iron Overload

About Iron Overload

Hereditary hemochromatosis is the most common genetic disorder in people of Northern European descent, affecting approximately 1 in 200. It causes excessive iron absorption from the diet, leading to iron overload in organs. The most common form is caused by mutations in the HFE gene, primarily C282Y homozygosity. Iron accumulates gradually over decades. Symptoms typically appear between ages 40 and 60 in men and after menopause in women, as menstruation provides natural iron loss. Classic presentations include chronic fatigue, joint pain arthritis particularly in the second and third metacarpophalangeal joints, abdominal pain, and bronze skin discoloration from melanin and iron deposition. Organ damage includes liver cirrhosis with risk of hepatocellular carcinoma, diabetes mellitus iron damages pancreatic beta cells, heart failure and arrhythmias, and hypogonadism from pituitary iron deposition. Diagnosis involves transferrin saturation above 45 percent and serum ferritin elevated, confirmed by genetic testing. MRI can quantify liver iron. Liver biopsy shows iron grading. Treatment is simple and effective: therapeutic phlebotomy, the regular removal of blood, which is frequent at first to reduce iron stores and then less frequent for maintenance, with ferritin monitored by a clinician. With early treatment, life expectancy is normal. Without treatment, cirrhosis, diabetes, and heart failure significantly reduce lifespan. Family screening of first degree relatives is recommended.