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Teachable Moment
Less Is More
January 2017

Hemochromatosis? When Bloodletting Is Not the Cure: A Teachable Moment

Author Affiliations
  • 1Department of Internal Medicine, University of Iowa Hospitals and Clinics, Iowa City
JAMA Intern Med. 2017;177(1):15-16. doi:10.1001/jamainternmed.2016.5872

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.