Too Much Iron

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 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 the various combinations, the estimated prevalence rises to 11 million. Hemochromatosis, a disease resulting from too much iron, also known as iron overload, can be managed with early detection by measuring serum ferritin and if elevated blood donation can help reduce iron levels and provide helpful information about elevated 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 measurement falls greater than 30-50ng/mL with only one blood donation, further investigation is needed to rule out B12 deficiency or other causes of hyperferritinemia, such as,  aceruloplasminemia, atransferrinemia, African iron overload, neonatal hemochromatosis, or hyperferritinemia cataract syndrome,

Presently with increased knowledge and genetic findings 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 C282Y/C282Y.

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 which include type 2a&b or juvenile hemochromatosis, type 3 also known as TFR2-related hemochromatosis.

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/

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