Hemochromatosis

Hemochromatosis

  • Hemochromatosis causes the body to absorb excessive amounts of iron. The iron is deposited in various organs including the liver, heart, pancreas, skin, heart and the joints causing an iron overload.

Hemochromatosis is a type of condition that causes the intestines to absorb more iron than normal, which causes a high amount of iron to be stored by various organs in the body. Over time, these high levels of iron can damage the organs, possibly causing them to fail. The earlier hemochromatosis is detected and treated, the better. If treatment begins before any organs are damaged, associated conditions — such as liver disease, heart diseases, arthritis, and diabetes.

 

What are the symptoms of hemochromatosis? 

 Initially during the disease subtle, but as the disease progresses along with increased iron load, Signs and symptoms  begin to emerge   including but not limited to:

  • Knee pain, the most common complaint
  • Fatigue
  • Lack of energy
  • Abdominal pain
  • Loss of sex drive
  • Heart problems.
  • Arthritis
  • Amenorrhea
  • Early menopause
  • Loss of sex drive
  • Impotence (repeated inability to get or keep an erection firm enough for sexual intercourse)
  • Shortness of breath.

As hemochromatosis advances and the accumulation of iron becomes toxic commonly find symptoms include:

  • Arthritis
  • Liver disease, including an enlarged liver, cirrhosis, cancer, and liver failure
  • Damage to the pancreas, possibly causing diabetes
  • Chronic (ongoing) abdominal pain
  • Severe fatigue
  • Weakening of the heart muscle
  • Problems with your heart rate or rhythms
  • Heart failure
  • Abnormal skin color, making it look gray or bronze.

 

What are the causes of hemochromatosis?

There are two types of hemochromatosis.

  • Hereditary hemochromatosis
  • Acquired hemochromatosis.

Hemochromatosis causes

Genetic, or hereditary hemochromatosis is mainly associated with a defect in a gene called the HFE gene, which helps regulate the amount of iron absorbed from food. 

The underlying cause is the inheritance of a mutated gene, HFE gene, which stops the body’s control of iron from working properly. It can only be inherited and can’t be caught by anybody else. It can, however, be passed on by having a child. While a person can carry the gene that doesn’t necessarily mean they will present with symptoms.

Various genes are also associated with hemochromatosis such as:

Juvenile hemochromatosis and neonatal hemochromatosis are two forms of the disease that are not caused by an HFE defect. The causes of hemochromatosis in these types is unknown. The juvenile form leads to severe iron overload, as well as liver and heart disease in adolescents and young adults between the ages of 15 and 30. The neonatal form causes the same problems in newborn infants.

Hepcidin gene

Ferroportin gene

Transferrin receptor 2 gene

 

 

Acquired hemochromatosis, on the other hand, occurs as a result of certain medical conditions. in particular, those in which there is a problem making red blood cells or hemoglobin. Medical conditions that can result in acquired hemochromatosis include:

  • Sideroblastic anemia
  • Thalassemia
  • Porphyria cutanea tarda
  • Alcoholics with chronic liver disease
  • Excessive iron intake
  • Frequent blood transfusions
  • Myelodysplastic syndrome
  • Sickle-cell anemia
  • Hepatitis C.

 

How is hemochromatosis diagnosed?

To detect whether a person has too much iron in the blood a ferritin or blood test can be carried out. High levels of ferritin can indicate an iron storage disorder. The typical ranges are 20 to 500 nanograms per milliliter in men; while 20 to 200 in women.

to make the accurate diagnosis of hereditary hemochromatosis it is essential to test for mutation of the HFE gene

 

 

How is hemochromatosis treated?

Hemochromatosis Treatment

In order to release the iron around a pint of blood is withdrawn(phlebotomy). For some people, this can mean attending hospital several times a year until the iron levels are reduced.

 

 

The information in this document does not replace a medical consultation. It is for personal guidance use only. We recommend that patients ask their doctors about what tests or types of treatments are needed for their type and stage of the disease.

Sources:

  • American Cancer Society
  • The National Cancer Institute
  • National Comprehensive Cancer Network
  • American Academy of Gastroenterology
  • National Institute of Health
  • MD Anderson Cancer Center
  • Memorial Sloan Kettering Cancer Center
  • American Academy of Hematology

 

© Copyright 2018 - Hematology Oncology Care. Digital Marketing by MD Digitas