1. Hereditary
Hemochromatosis
Zane Kaminski

2. What is hemochromatosis?
It’s a condition that causes dangerously high
levels of iron build up in the body.

3. What is hemochromatosis?
It’s present in approximately 4.5 out of 1000
individuals, but much more frequently in men.

4. What is hemochromatosis?
If untreated, it can lead to organ failure or even death!

5. Phases of Hemochromatosis
Early Stage Late Stage

6. Phases of Hemochromatosis
Early Stage Late Stage

7. Phases of Hemochromatosis
Early Stage Late Stage

8. Symptoms of
Hemochromatosis
Early Stage Late Stage
 Fatigue  Arthritis
 Joint pain  Liver disease
 Abdominal pain  Diabetes
 Loss of libido  Heart abnormalities
 Skin discoloration
 Organ Failure

9. Genetic Basis
The specific genetic cause of hereditary
hemochromatosis are the C282Y mutation, and another
similar H63D mutation, both in the human HFE gene.

10. Genetic Basis
The mutation that causes hemochromatosis is inherited
in a homozygous recessive manner, meaning that
heterozygotes, while they do not have
hemochromatosis, serve as carriers for the disease.

11. Genetic Basis
Hemochromatosis is incompletely dominant, meaning
that heterozygotes do have higher blood iron levels
than homozygotes, but not dangerously so.

12. Treatment
Treatment is relatively simple and straightforward, and
consists of regular phlebotomies, or removal of blood.

13. Treatment
This serves to reduce iron levels in the body and
bloodstream.

14. Treatment
If treatment for hemochromatosis is sought promptly,
affected individuals can lead completely normal lives!

15. Cycle of Treatment
High iron levels
necessitate a
phlebotomy.
Regular
Iron levels rise. phlebotomies
are performed.
Iron levels
Blood iron levels
eventually
decrease.
become normal.

16. Summary
 Hemochromatosis is completely treatable.
 Individuals with the disease, if they seek help promptly, can live
totally normal lives.
 However, those who do not may suffer organ damage, etc.
 Hemochromatosis is inherited in an autosomal recessive manner.
 Not all individuals with the homozygous recessive genotype have the
disease, however!
 Treatment consists of regular phlebotomies.

17. References
Center for Disease Control and Prevention. (2010, September 3). Hemochromatosis (Iron Storage Disease). Retrieved July 25,
2012, from Center for Disease Control and Prevention: http://www.cdc.gov/ncbddd/hemochromatosis/
Lab Tests Online. (2011, July 12). TIBC & UIBC, Transferrin. Retrieved July 25, 2012, from Lab Tests Online:
http://labtestsonline.org/understanding/analytes/tibc/tab/test
Moalem, S. (2007). Survival of the Sickest. New York: William Morrow.
National Center for Biotechnology Information. (n.d.). Homo Sapiens Hemochromatosis (HFE), transcript variant 1, mRNA.
Retrieved July 25, 2012, from https://www.ncbi.nlm.nih.gov/nuccore/NM_000410
Phatak, P. D., Sham, R. L., Raubertas, R. F., Dunnigan, K., O'Leary, M. T., Braggins, C., & Cappuccio, J. D. (1998, December 1).
Prevalence of Hereditary Hemochromatosis in 16031 Primary Care Patients. Annals of Internal Medicine. Retrieved July
25, 2012, from http://annals.org/article.aspx?volume=129&page=954
TW French, J. B. (n.d.). Percent Saturation of Transferrin. Retrieved July 25, 2012, from Cornell University College of
Veterinary Medicine: http://ahdc.vet.cornell.edu/clinpath/modules/chem/sat.htm
U.S. Department of Health and Human Services. (2012, 10 May). Hemochromatosis. Retrieved July 25, 2012, from National
Digestive Diseases Information Clearinghouse:
http://digestive.niddk.nih.gov/ddiseases/pubs/hemochromatosis/index.aspx