11 Million Americans or more have the genes that can result in too much iron.


Iron deficiency with and without anemia are a key focus areas for Iron Disorders Institute.

11 Million Americans

or more have the genes that can result in too much iron

A landmark 2001 medical paper was published in the Journal of the American Medical Association (JAMA) entitled “Prevalence of C282Y and H63D mutation in the Hemochromatosis (HFe) gene in the United States.” Authors Steinberg, Cogswell, Chang, Caudill, McQuillan, Bowman, Grummer-Strawn, Sampson, Khoury, and Gallagher reported “One million Americans have the genetic makeup for the classic type of hemochromatosis, (then defined as a C282Y/C282Y homozygote.) When including known mutations of H63D, S65C and their various combinations, the estimated prevalence of hemochromatosis rises to 11 million. Classic hemochromatosis (HHC) is an inherited adult-onset metabolic disorder that can result in hemochromatosis.

Hemochromatosis (HH) is a disease resulting from too much iron; it is also known as iron overload disease. Early detection is key for reducing the risk of damage to vital organs such as the liver, heart, joints, reproductive organs, brain, and the endocrine system. Detection of iron overload can be achieved with blood tests that measure: fasting serum iron, total-iron binding capacity (TIBC), transferrin, and serum ferritin (SF).  With TIBC and serum iron, an important calculation can be made and provide the transferrin-iron saturation percentage (TS%), which is an indirect measure of how saturated with iron is transferrin, a major transporter of iron. When the TS% is greater than 45% and the serum ferritin is elevated above normal range, a genetic test might be considered. Note: normal ranges are different for pediatric cases.  

Steps to reduce high body iron levels should not be postponed, especially if the serum ferritin is above 1,000ng/mL. Iron reduction can be achieved with blood donation or therapeutic phlebotomy (a physician ordered blood donation). This type of iron reduction therapy can be used as long as the individual is not anemic (hemoglobin value below normal). When iron overload is present but the hemoglobin is low (anemia), then iron chelation therapy is warranted. 

Once iron levels are brought back into normal range, diet modification and supplements can help maintain healthy iron levels.

Serum ferritin rises in the presence of inflammation and falls by about 30ng/mL with one routine donation of blood (approx. 500cc.) If the serum ferritin level falls by more than 30-50ng/mL with only one blood donation, further investigation is needed to rule out B12 deficiency or other causes of hyperferritinemia (elevated serum ferritin), such as, aceruloplasminemia, atransferrinemia, African iron overload, neonatal hemochromatosis, or hyperferritinemia cataract syndrome.

Presently with increased genetic discoveries we can add to the “Too Much Iron” side ferroportin disease. Once thought rare, this type of hemochromatosis (type 4) may be more common than classic type 1.

Ferroportin disease is best described by William JH Griffiths PhD FRCP, Consultant Hepatologist, Addenbrooke’s Hospital, Cambridge, UK. Read his summary here https://rarediseases.org/rare-diseases/ferroportin-disease/

Besides ferroportin disease (type 4 hemochromatosis), other types of non-HFe types of hemochromatosis include type 2a&b or juvenile hemochromatosis, and type 3 also known as TFR2-related hemochromatosis. And now, a type 5 has been discovered. In 2001, a Type 5 hemochromatosis was described. This type was identified in a Japanese family who did not exhibit any of the mutations expressed in type 1-4. Read more about type 5 hemochromatosis: https://omim.org/entry/615517

An excellent description of these different types of hemochromatosis appears in the European Journal of Human Genetics and can be viewed here: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4929861/



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Explore Christine O’Leary’s father’s story with Hemochromatosis.



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