Training & Education - Pathophysiology
Summary

Iron Overload

• 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

• 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

• 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. 

 

Test Your Knowledge

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.

 

Question 1: An accumulation of excess iron in body tissues as a result of a genetic predisposition or complication of a hematological disorder is Iron overload Hemochromatosis Hereditary hemochromatosis

Question 2: A genetic disease that results in significant accumulation of excess iron in body tissues is Iron overload Hemochromatosis Hereditary hemochromatosis

Question 3: A disease that occurs as a result of a significant accumulation of excess iron in body tissues and can have genetic and non-genetic causes is Iron overload Hemochromatosis Hereditary hemochromatosis

Question 4: HFE gene mutations Lead to calcium deficiency. Usually lead to decreased absorption of dietary iron. Can lead to iron overloading and the development of clinical signs and symptoms of hemochromatosis.

 

 

   Iron Overload           Epidemiology