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Diseases » Hemochromatosis » Types

Types of Hemochromatosis

Contents

Hemochromatosis: Types list

The list of types of Hemochromatosis mentioned in various sources includes:

Hereditary Hemochromatosis - the genetic form from the HFE gene
Juvenile hemochromatosis - occurs age 15-30
Neonatal hemochromatosis - occurs in infants

Types discussion:

Genetic hemochromatosis is mainly associated with a defect in a gene called HFE, which regulates the amount of iron absorbed from food. Two mutations, named C282Y and H63D, can cause hemochromatosis. The genetic defect is present at birth, but symptoms rarely appear before adulthood. A person who inherits the defective gene from both parents develops hemochromatosis. A person who inherits the defective gene from only one parent is a carrier for the disease but usually does not develop it. However, carriers might have a slight increase in iron absorption.

Scientists hope that further study of HFE will reveal how the body normally metabolizes iron. They also want to learn how iron injures cells and whether it contributes to organ damage in other diseases, such as alcoholic liver disease, hepatitis C, porphyria cutanea tarda, heart disease, reproductive disorders, cancer, autoimmune hepatitis, diabetes, and joint disease.

Juvenile hemochromatosis and neonatal hemochromatosis are two forms of the disease that are not caused by an HFE defect. Their cause is unknown. The juvenile form leads to severe iron overload and liver and heart disease in adolescents and young adults between the ages of 15 and 30, and the neonatal form causes the same problems in infants. (Source: excerpt from Hemochromatosis: NIDDK)