About Classic Hereditary Hemochromatosis

What is Classic Hereditary Hemochromatosis?

Classic Hereditary Hemochromatosis (HH) is an inherited disorder that causes the body to absorb and store too much iron. It is the most common form of iron overload disorder and is caused by mutations in the HFE gene. Symptoms of HH can include fatigue, joint pain, abdominal pain, and diabetes. If left untreated, HH can lead to serious complications such as liver cirrhosis, heart failure, and arthritis. Treatment typically involves regular blood removal (phlebotomy) to reduce iron levels.

What are the symptoms of Classic Hereditary Hemochromatosis?

The most common symptoms of classic hereditary hemochromatosis include:

-Joint pain
-Abdominal pain
-Loss of sex drive
-Liver disease
-Heart problems
-Skin discoloration
-Weight loss
-Loss of body hair
-Abnormal liver function tests

What are the causes of Classic Hereditary Hemochromatosis?

Classic Hereditary Hemochromatosis is caused by a mutation in the HFE gene. This gene is responsible for regulating the amount of iron absorbed from the diet. The mutation causes the body to absorb too much iron from the diet, leading to an accumulation of iron in the body's organs and tissues.

What are the treatments for Classic Hereditary Hemochromatosis?

The primary treatment for classic hereditary hemochromatosis is phlebotomy, which is a procedure that removes excess iron from the body by drawing blood. Other treatments may include dietary changes, such as avoiding foods high in iron, and medications to reduce iron absorption. In some cases, iron chelation therapy may be used to remove excess iron from the body.

What are the risk factors for Classic Hereditary Hemochromatosis?

1. Being of Northern European descent
2. Having a family history of hemochromatosis
3. Being male
4. Having two copies of the HFE gene mutation
5. Having a history of excessive alcohol consumption
6. Having a history of blood transfusions
7. Having certain other genetic mutations, such as TFR2 or SLC40A1

Is there a cure/medications for Classic Hereditary Hemochromatosis?

Yes, there is a cure for classic hereditary hemochromatosis. The main treatment is a process called phlebotomy, which involves removing a certain amount of blood from the body on a regular basis. This helps to reduce the amount of iron in the body and can help to prevent organ damage. In some cases, medications may also be prescribed to help reduce the amount of iron in the body.