Training & Education - Pathophysiology Summary
- Iron overload is the accumulation of excess iron in body tissues.
- Once iron is absorbed, there is no physiologic mechanism for excretion of excess iron from the body other than blood loss (i.e., pregnancy, menstruation or other bleeding.)
- Iron is bound and transported in the body via transferrin and stored in ferritin molecules.
- The liver and heart are especially vulnerable.
- Hemochromatosis is a disease that occurs as a result of significant iron overload. It can have genetic (majority of cases) or non-genetic causes.
- Men thus tend to become symptomatic in middle age (40s) and women who stop menstruating develop symptoms about 15 years later.
HFE Gene Mutations
- HFE gene mutations can lead to iron overloading.
- Hereditary hemochromatosis is the genetic disease that results from significant iron overload.
- The majority of hereditary hemochromatosis (also known as Type 1 Hemochromatosis) is associated with homozygous mutations in the HFE gene.
- People with HFE mutations absorb a few extra milligrams of iron per day. Over decades, this leads to iron overloading that can lead to disease.
This is an optional self-quiz and is not required for continuing education credit.
Select the best answers below. If you need help, feel free to go back to Iron Overload and review.
- Centers for Disease Control and Prevention
National Center on Birth Defects and Developmental Disabilities
Division of Blood Disorders
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