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Hereditary Hemochromatosis




An InBrief review of Hereditary hemochromatosis, a disease resulting in an excess of iron stored in the body, potentially resulting in liver and other organ damage.

Excessive iron (stained blue with Perls Prussian blue) deposited in the cytoplasm of hepatocytes

by David Payne, MD and David Kauvar, MD

Hereditary hemochromatosis- homozygote or heterozygote, what is the difference?

Hereditary hemochromatosis is one of the most common inherited disorders in individuals of which descent?

Hereditary hemochromatosis (HH) is a disease resulting in an excess of iron stored in the body, potentially resulting in damage to the liver, pancreas, skin, heart, bones, and testes. The most common form stems from mutations in the homeostatic iron regulator (HFE) gene. It is inherited in an . . .

Read the conclusion for more about:

  • hereditary hemochromatosis signs and symptoms

  • diagnostic evaluation

  • treatment options

  • and prognosis.

Read the full Hereditary Hemochromatosis InBrief on members can get access to the PDF, non-members can pay $1.00 for the PDF.

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About The Authors

David Payne, MD

Dr. Payne attended New York Medical College and is currently in residency in the Department of Medicine at the Renaissance School of Medicine at Stony Brook University.

David Kauvar, MD

Dr. David Kauvar, Assistant Professor of Medicine at Columbia University Medical Center, is board-certified in Internal Medicine and Gastroenterology. Dr. Kauvar obtained his medical degree from the University of Colorado and completed his internship and residency in Internal Medicine at the University of California-San Diego. His fellowships in Gastroenterology were completed at the University of Colorado, Denver, and Beth Israel Hospital in Boston. Dr. Kauvar holds memberships in the American Society of Gastroenterology and American of Gastrointestinal Motility.


PHOTO CREDIT: Jose Luis Calvo

Brissot P Cavey T, Ropert M, Guggenbuhl P, Loréal O. Genetic hemochromatosis: pathophysiology, diagnostic and therapeutic management. Presse Med. 2017;46:e288-e295.

Crownover B, Covey C. Hereditary hemochromatosis. Am Fam Physician. 2019;87:183-190.

Milman N, Pedersen P, á Steig T, Byg K, Graudal N, Fenger K. Clinically overt hereditary hemochromatosis in Denmark 1948–1985: epidemiology, factors of significance for long-term survival, and causes of death in 179 patients. Ann Hematol. 2001;80:737-744.

Asif S, Begemann M, Raza S. Polycythemia in Patients With Hereditary Hemochromatosis: Real or Myth? J Clin Med Res. 2019 Jun;11(6):422-427. doi: 10.14740/jocmr3816. Epub 2019 May 10.

Choudhary C, Patel P, Bacon B, Gogia S. Hereditary Hemochromatosis (HH). American College of Gastroeneterology. Last updated September 2021.

Kowdley K, Brown, K, Ahn, J, Sundaram, V. ACG Clinical Guideline: Hereditary Hemochroatosis. The American Journal of Gastroenterology. 2019;114(8):1202-1218. doi:10.14309/ajg.0000000000000315

Asberg A, Thorstensen K, Hveem K, Bjerve K. Hereditary hemochromatosis: the clinical significance of the S65C mutation. Genet Test. 2002;6(1):59-62. DOI: 10.1089/109065702760093933


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