Hereditary Hemochromatosis: Causes, Symptoms, Treatment, FAQ

Hereditary Hemochromatosis is a pathological condition in which the body starts to absorb excess iron from the food ingested. This excess iron is then stored in various organs of the body especially the liver, heart, and the pancreas. This iron overload in these organs can cause adverse effects to the organs and cause potentially serious conditions like cancer, arrhythmias, or cirrhosis of the liver. Majority of people get the genes that cause Hemochromatosis from their parent. This disease is more serious in males than females. The characteristic features of Hereditary Hemochromatosis usually start to present themselves when an individual is in the 30 to 40 years of age range. This increase in iron levels can be easily normalized by removing blood from the body at regular intervals.

The cause of Hereditary Hemochromatosis is mutation in gene which controls amount of iron that the body absorbs from the food ingested. Gene which is mutated commonly in cases of Hereditary Hemochromatosis is the HFE gene. This defective gene is inherited from each parent. This gene has two mutations which are the C282Y and H63D and any one of these mutations is present in about 90% of cases of Hereditary Hemochromatosis. Genetic testing can determine if mutation of this gene is present in an individual.

Some of the risk factors for hereditary hemochromatosis include:

Individual who has both copies of mutated HFE gene: This is one of the biggest risk factor for development of Hereditary Hemochromatosis.

• Family History: If an individual has a family history of Hemochromatosis with a direct relative being affected then more often than not that individual will end up having this disease. Also, if there is a family history of alcoholic disorders, cardiac conditions, diabetes, liver dysfunction, then the risk of developing hemochromatosis magnifies
• Ethnic Background: It is shown in studies that individuals who hail from the Northern part of Europe are more at risk for Hereditary Hemochromatosis than others. This disease rarely affects people who are African-Americans, Hispanics, or Asian individuals
• Gender: It is shown in studies that males are affected with Hereditary Hemochromatosis more than females and that too at a young age. This is because females get rid of excess iron through their menstrual periods whereas males do not, even though females above age of 50 are at equal risk for developing Hemochromatosis as males

Some of the symptoms of Hereditary Hemochromatosis include:

• Joint pain
• Severe fatigue
• Weakness
• Diabetes
• Decreased libido
• Impotence
• Heart failure

Hereditary Hemochromatosis is a difficult condition to diagnose, as the early signs and symptoms of this disease are quite similar to other disease conditions. The only sign which may point to Hereditary Hemochromatosis is the presence of excess iron levels in the blood. Most cases of Hereditary Hemochromatosis are identified when blood tests are conducted for some other reason and this condition is an incidental finding. Some of the tests done for diagnosing Hereditary Hemochromatosis are:

Serum Transferrin Saturation: This test is done to measure the amount of iron which is bound to the protein which carries iron in the blood. If the saturation is greater than 45% then it is an indicator of an iron overload pointing towards Hereditary Hemochromatosis.

Serum Ferritin Levels: In this test, the amount of iron stored in the liver is measured. If the results are on the higher end of normal then it is an indicator of iron overload.

Since there can be a number of condition which can cause elevated ferritin levels hence both the above mentioned tests are required to confirm the diagnosis of Hereditary Hemochromatosis.

Additional testing that are performed to confirm the diagnosis of Hereditary Hemochromatosis are:

• Liver function tests
• MRI of the liver
• Genetic testing for gene mutations
• Liver biopsy

The treatment of Hereditary Hemochromatosis is divided into two phases

• The Initial Treatment of Hereditary Hemochromatosis
• The Maintenance Treatment of Hereditary Hemochromatosis

• Initial Treatment of Hereditary Hemochromatosis: To begin with, the treatment will involve removal of around 500 mL of blood from the body at least twice a week to cut down the iron overload in the body. This process usually takes not more than half an hour and is not uncomfortable for the patient.
• Maintenance Treatment of Hereditary Hemochromatosis: Once the iron levels are normalized, blood draws are more spaced out, around every three months. Some individual may maintain normal iron levels whereas some people may need removal of blood on a monthly basis. All of this depends on the rate at which iron accumulates in the body.

The above treatments resolve the symptoms of tiredness, abdominal pain etc. It also tends to prevent potential complications that may arise due to Hereditary Hemochromatosis like heart conditions or cirrhosis. Insertion of catheter in vein and removal of blood is also known as phlebotomy. In case if an individual develops cirrhosis due to Hereditary Hemochromatosis, then the physician will advise periodic liver screening to look for any presence of cancer through an ultrasound or blood tests.

In case if an individual has anemia and cannot undergo blood removal then the physician may prescribe medication to remove excess iron from the body. This medication comes in both injectable or pill form and it causes excess iron to be eliminated from the body through urine and stool.

Some of the home remedies suggested for Hereditary Hemochromatosis include:

• Restrict foods which are rich in iron.
• Avoid supplements rich in vitamin C as it aids in absorption of iron
• Alcohol cessation is extremely beneficial and it cuts down any risk of damage to the liver
• Try and avoid eating raw shellfish
• Drink lots of tea. There is some evidence that tannin-rich tea slows down iron storage.

To test whether an individual has iron overload, there are quite a few screenings that can be done. One can do a total iron binding capacity or TIBC in order to find transferrin-iron saturation percentage, which gives an idea of whether there is an iron overload. The normal percentage is between 25-35%.

Iron overload related to the HFE gene does not occur in the younger generation or children. It usually takes about 30 years for the overload caused due to the HFE gene to cause significant damage to organ structures. Infants have iron content in their body as a natural occurrence and it cannot be considered as iron overload. Studies show of one condition called Juvenile Hemochromatosis but this type of hemochromatosis is not caused due to the HFE gene.

No, even though liver biopsy remains an extremely potent diagnostic procedure to identify liver damage, for diseases like hemochromatosis this test is not used

Alcohol can be consumed in little amounts if the state of the liver is healthy but excess use may damage the liver and cause iron deficiency.

It is preferred that with people who have hemochromatosis they use ceramics for cooking rather than iron or steel made utensils as some amount of iron may still go into the body when an individual uses iron or steel made utensils or grills but if an individual monitors his or her iron levels regularly then does not matter as to which type of cookware is used.

It is not necessary to completely stop eating red meat but it is recommended to eat it in moderation, especially when under treatment to control the iron levels in the body?

It is recommended to avoid spinach in diet for people with hemochromatosis as it contains iron which is not easily absorbed by the body and puts an individual at risk for organ damage.

It is highly recommended that individuals with hemochromatosis eat fruits and vegetables as it is good for them.

Yes, raw shellfish contains bacteria called Vibrio Vulnificus which is found to extremely dangerous for people with iron overload.