Understanding Hemochromatosis: Testing and Treatment

Oftentimes, people think that diseases of the body are because of germs, or some kind of deficiency or abnormality caused by a lack of nutrients and other important minerals or vitamins. However, there are certain diseases that manifest in the body because of an excess of certain minerals. For instance, Hemochromatosis is a common form of iron overload disease. The medical terminology refers to any form of iron overload indicating different types of Hemochromatosis. Another term to understand is Hemosiderosis, which is also called Siderosis, which is used to infer the pathological condition of any particular organ of the body that results in iron accumulation in the form of Hemosiderin (insoluble form of iron stored in the tissues). Hemochromatosis is a disease that is classified into different types based on the specific causes that result in iron overload.

Forms of Hemochromatosis

Primary Hemochromatosis is one specific form of the disease that occurs due to hereditary reasons. Hence, this form is also called hereditary Hemochromatosis. This primary form of the disease is further divided into Juvenile Hemochromatosis and Neonatal Hemochromatosis. These types are named according to the age at which the iron overload occurs. The neonatal form of the disease is characterized by iron deposits building in the infant's liver very quickly; Neonatal Hemochromatosis very often leads to the infant's death. The juvenile form of the disease appears between the ages of 15 and 30 years of age. Juvenile Hemochromatosis is also characterized by an iron overload in the liver; this form of the disease leads to diseases of the liver and heart. Whatever the form of Hemochromatosis, this excess iron accumulates around the organs and tissues and damages them. The disease destroys the normal functioning of the organs and leads to organ failure. Another form of the disease is Secondary Hemochromatosis; this usually manifests as a subsequent disease due to anemia, alcoholism and other diseases.

Symptoms of Hemochromatosis

Symptoms of Hemochromatosis include:

Painful joints

Fatigue

Lack of energy

Loss of appetite

Loss of sex drive

Early menopause

Liver disease

Heart disease

Damage to the endocrine glands

Diabetes

Tanning of the skin without reason

Whatever the type or form of Hemochromatosis, there are general symptoms that could be early warning signs of the ongoing iron overload. Men are more prone to this iron overload disease, though specific causes have not been identified for this.

Diagnosis and Testing for Hemochromatosis

Diagnosis and testing for iron overload is done by blood tests and medical scans. The tests include:

Serum ferritin test - The serum ferritin test is a type of blood test that measures the amount of iron that is stored in the body.

Iron test - The iron test is done while the patient is fasting. The patient is usually asked to fast for 12 hours before the test is done. This blood test is done to measure the amount of iron is circulating in the blood.

TIBC (Total Iron-binding Capacity) - A TIBC is a blood test that measures the circulatory system's ability to transport iron throughout the body. The patient is instructed to fast for 12 hours before the blood is drawn.

Liver biopsy - A liver biopsy is done to measure the concentration of iron that is stored in the liver.

Ferri-scan - A ferri-scan is an MRI scan that will allow the medical experts to measure the amount of iron stored in the body.

Genetic testing - Genetic testing is done by testing the patient's DNA. The test checks for DNA mutations in the HFE (H - high FE - Iron) gene. The test measures the amount of Human Hemochromatosis Protein that causes the high iron levels in the body.

Treatment for Hemochromatosis

Because Hemochromatosis is a disease that could occur due to heredity, all of the family members that are blood relatives should be screened for early detection and control of the disease. Treatment of this disease may involve several specialists, which are a hepatologist, a gastroenterologist, and a hematologist, a rheumatologist, a cardiologist, and an endocrinologist. The definition for each of these specialists is stated below.

Hepatologist - A hepatologist is a doctor that specializes in diseases of the liver.

Gastroenterologist - A gastroenterologist is a doctor that specializes in diseases of the digestive system.

Rheumatologist - A rheumatologist is a doctor that specializes in diseases of the joints.

Cardiologist - A cardiologist is a doctor that specializes in diseases of the heart.

Endocrinologist - An endocrinologist is a doctor that specializes in diseases of the endocrine glands.

The basic method of treatment for Hemochromatosis is done by a phlebotomy (drawing blood from the body); this can be done by donating blood. Donating blood at regular intervals will help the patient keep his/her iron levels within normal limits. This method of treatment is mutually beneficial for the donor and the recipient of a blood donation. Another form of treatment is done with drugs. Medications are prescribed to reduce the blood's binding capacity with iron. Medications may be administered at the doctor's office or clinic by injection, or a pill can be taken by mouth.

Conclusion

People living with Hemochromatosis should not take any iron supplements or vitamins that contain iron. They should also not take Vitamin C supplements because Vitamin C increases iron absorption. The doctor will likely advise the patient to drink juices rich in Vitamin C between meals and not with meals. People having this disease should not drink alcohol because alcohol can cause liver damage. People living with Hereditary Hemochromatosis should not eat any raw shellfish, like clams and oysters, because these animals may contain bacteria. Eating shellfish can increase one's risk of getting an infection.

Sources:

Mayoclinic.com

Webmd.com