Curbside Consultation of the Liver: 49 Clinical Questions

Mitchell L. Shiffman, MD

Question 19: What Is The Best Screening Test For Genetic Hemochromatosis? (continued)

Peter Dienhart, MD; Jayanta Choudhury, MD; Anastasios A. Mihas, MD, DMSc, FACT, FACG

Hereditary hemochromatosis (HH) is an inherited disorder of iron metabolism that leads to excess parenchymal iron deposition in various organs of the body. Although originally described in the early 1800s, the genetic basis was deciphered only in the mid-1990s and linked to the HFE (hemochromatosis) gene attached to the short arm of chromosome 6. It also happens to be one of the most common inherited disorders that lead to chronic liver disease in patients of northern European descent. HH, if diagnosed early, is a preventable etiology of chronic liver disease. As cirrhosis continues to be the…