MedifocusHealth

Four types of hereditary hemochromatosis have been identified. These include

• Type I - This is the "classic" type of hereditary hemochromatosis and is the topic of this Medifocus Guidebook.

• Type II - Also called juvenile hemochromatosis, Type II is a rare but severe iron overload disorder that usually develops between the ages of 15 and 30. It affects males and females equally. Clinically, juvenile hemochromatosis is recognized by a combination of symptoms including hypogonadism, heart disease, cirrhosis of the liver, diabetes, skin pigmentation, and a form of arthritis. Cardiac symptoms are typically more dominant than others. Although these symptoms overlap with those of hereditary hemochromatosis, in juvenile hemochromatosis the symptoms occur at a much earlier age. Juvenile hemochromatosis is a rare disorder that is only sporadically reported in various populations around the world.

• Type III - This is an autosomal recessive disorder caused by mutation on the TfR2 gene found on chromosome 7. It can be seen in any ethnic group.

• Type IV - This is an autosomal dominant disorder due to a mutation of a protein called ferroportin (a protein that moves iron out of the cell and into the bloodstream) and is seen mostly in people of African descent.

• Neonatal hemochromatosis is a rare disorder that affects the fetus in utero (occurs in the womb before birth) resulting in excessive accumulation of iron in the liver and other organs. It is typically associated with extensive injury to the liver, rather than a genetic mutation. Most fetuses with neonatal hemochromatosis die in utero and those that are born survive only a few hours or days.