A 34-year-old white woman presented to her primary care physician to establish care. Though not a recommended screening test in asymptomatic patients, liver function tests obtained revealed elevated aspartate transaminase (AST) and alanine transaminase (ALT) levels at 1.02 µkat/L and 0.82 µkat/L, respectively. Ferritin levels were also elevated at more than 2247 pmol/L. On further investigation, the patient stated she previously had problems with alcohol, however, she reduced her intake to 2 to 3 1-ounce alcoholic beverages daily, and occasionally heavier use on weekends. She also believed she had a family member with “iron issues.” Genetic testing revealed she was homozygous for the hemochromatosis gene, HFE C282Y. She was diagnosed with hereditary hemochromatosis and began phlebotomy with a goal to reduce her ferritin levels to less than 112.35 pmol/L. Phlebotomy was performed initially weekly, but was extended to monthly and then every 6 months owing to severe anemia with episodes of fatigue and dizziness during menstruation. Her hemoglobin level was reduced to 98.0 g/L (baseline 135.0 g/L) and her mean corpuscular volume was reduced to 78.7 fL (baseline 100.8 fL). Phlebotomy was discontinued and the patient continued to have elevated transaminases and ferritin levels.
Odufalu F, Harris K. Hemochromatosis? When Bloodletting Is Not the CureA Teachable Moment. JAMA Intern Med. Published online October 17, 2016. doi:10.1001/jamainternmed.2016.5872