Hemochromatosis is a condition where excess iron gets deposited in various organs of the body. In this article, we discuss the possible causes of hemochromatosis and whether the condition can be reversed.
Iron is an essential mineral required for the proper functioning of the body. People would be healthy if the level of iron is at a certain level. It can cause disorders either if it is deficient or if it is in excess in the body. Here we are concentrating on the presence of excess iron in the body. This condition is also called hemochromatosis or hemochromatosis. It can lead to more complications such as damage to the parts like heart, joints, liver and/or pancreas if not treated.
What are the Possible Causes of Hemochromatosis?
Accumulation of iron in the body is a slow process. Let us look at the possible causes of hemochromatosis include:
Hereditary Hemochromatosis (HHC): This type of hemochromatosis is inherited from the parents and passed on to future generations through genes. It occurs in homozygotes with a mutation of the hemochromatosis gene (HFE) protein.1 This is one of the most common possible causes of hemochromatosis.
Hemochromatosis is commonly seen in the Irish, Breton, Scottish, Welsh, and Cornish. Hence the condition is also named as Scottish sickness, Irish illness, Celtic curse, British gene, etc. The main cause of this type is a mutation on the HFE gene called C282Y mutation. The disease can be classified into many categories based on the mutation of different genes. Some of them are Haemochromatosis type 1, 2A, 2B, 3, 4, Neonatal, Aceruloplasminemia, congenital atransferrinemia, and Gracile syndrome. Out of these, hemochromatosis type 1 is called a classical type. Others are referred to as nonclassical ones. Also, most of them are autosomal recessive type except type 4 which is an autosomal dominant.
Some of the other secondary possible causes, which are acquired in the lifetime are given as
Overload of Iron By Transfusion: In some individuals, because of different reasons like thalassemia major, sickle cell anemia, myelodysplastic syndrome, etc., blood transfusion is needed frequently. In such cases, iron builds up slowly in the body leading to hemochromatosis.
Through Diet: Another possible cause of hemochromatosis is dietary habits. This is due to excess intake of iron probably as a result of the inclusion of iron-rich foods in excess on a regular basis or because of an unbalanced diet.
Diabetes: In diabetics, selective iron accumulation can cause iron overload in beta cells of islet of Langerhans of the pancreas.
Arthritis: In people suffering from arthritis, iron gets collected in joints, which causes joint pain. This too is a part of the pathophysiology and one of the possible causes of hemochromatosis.
Chronic Hemolysis: Rupturing of red blood cells is called hemolysis. It can be either intravascular or within the bone marrow prior to the maturity of RBCs.
Can Hemochromatosis Be Reversed?
It is important to understand if hemochromatosis can be reversed. Some studies suggest that if early diagnosis is made before organ damage, treatment can prevent the manifestation of hemochromatosis.2 Once iron stores are depleted with treatment, some cardiac damage and skin pigmentation can be reversed. However, it is difficult to reverse liver and endocrine damage. Joint arthritis often cannot be reversed and mostly continues to progress even after depletion of iron stores.
Signs and Symptoms of Hemochromatosis
Symptoms of hemochromatosis vary from person to person. Some of the symptoms appear in the early stages of hemochromatosis and most of them are related to old age. So these symptoms are often overlooked and assumed as age-related.
- Fatigue whole day
- Joint pain
- Weight loss
- Irregular periods in women
- The problem in erection in men.
If hemochromatosis is not detected and treated in time, may lead to complications which include the following symptoms:
- Swelling of the abdomen with pain
- Symptoms of jaundice (color of skin and sclera of eyes becoming yellow)
- Chest pain
- Arrhythmia (heartbeat is irregular)
- Shortness of breath
- Stiffness of joints with severe pain
- Libido (loss of sex drive)
- Size of testicles in men become smaller.
Diagnosis of Hemochromatosis
Usually, iron overload is indicated when serum ferritin level crosses 300 ng/ml in both men and females after menopause. Before menopause, if women have serum ferritin above 150 or 200 ng/ml, it is considered as hemochromatosis.
Hemochromatosis is diagnosed based on the following tests:
The condition is confirmed by blood tests if it is suspected during a clinical examination. Normally transferrin saturation level is checked, which reveals the amount of iron in the blood and serum ferritin test is conducted to know the amount of iron stored in the tissues.
A DNA test is done for confirmation of all the types of hemochromatosis. It gives a positive result for the HFE test for both symptomatic and asymptomatic conditions.
In some patients, DNA testing will not be helpful to know the cause if there is no mutation but still they have a high amount of iron. In such patients, if they have a family history of liver-related problems, liver biopsy is carried out. Here, a small portion of the liver is taken out to find out the cause for cirrhosis or inflammation if present.
MRI (magnetic resonance imaging) is done to estimate the iron accumulation in different parts of the body like the pituitary gland, joints, heart, and liver.
Treatment of Hemochromatosis
Hemochromatosis is the deposition of iron in excess amount in the body, hence treating this condition can be difficult, at times. The condition may not have a complete cure but there are some treatments to decrease excess iron. These include
Phlebotomy or venesection – This is the most preferred treatment of hemochromatosis. Here, a little quantity of blood is drawn out of the body from a vein using a needle. To manage the lost iron, the stored iron would be released to the blood which brings down the level of iron in the tissues. Doctors remove the blood at regular intervals if they find iron in large quantity. Hence the patient is advised to visit the clinic for phlebotomy procedure once in a week or once in a fortnight and so on. After reaching the required level, the removal of blood is made less frequent to maintain the level of iron.
Chelation therapy – Sometimes, when the veins of the patient are very thin and weak, it is difficult to follow venesection. In such cases, another treatment called chelation therapy is followed where a particular medicine which helps to remove the excess iron from the blood is used. This medicine forms a complex with the iron and eliminates it through urine or stools. A normally used chelating agent is deferoxamine. In the case of thalassemia patients, blood transfusion is essential. Hence to avoid the overload in these patients, two more chelating agents are found out are deferiprone and deferasirox. These two are licensed drugs.
In chronic conditions with iron overload, treatment includes subcutaneous injections given every 8 to 12 hours.
Prevention of Hemochromatosis
Along with all the above treatments, it is very essential to reduce the iron-rich food intake in the morning. Actually, iron is available in two forms in the diet. They are heme iron and nonheme iron. Out of these, heme iron is easily absorbed and nonheme iron is not so easily absorbed. Heme iron is rich in red meat like fish like tuna, buffalo, beef and lamb. Nonheme iron has plant source and it is rich in beans, fruits, grains, seeds, vegetables, and nuts. It is very essential to cut down heme iron-rich foods in the diet.
Some tips can be considered in this condition:
- A balanced diet is needed.
- As vitamin C helps for more iron absorption, it is necessary to eliminate citrus fruits and other foods rich in vitamin C from the diet.
- Foods fortified with iron must be avoided for breakfast
- Intake of alcohol is to be stopped as it increases the accumulation of iron in the tissues.
Some bacteria are found to cause infections in patients suffering from an overload of iron. These bacteria are normally present in oysters. So it is better not to consume such foods.
Hemochromatosis is a condition, in which excess of iron in the body causes problems. Knowing the possible causes of hemochromatosis helps to understand the condition better. Early diagnosis and timely treatment prevent further problems. The complications may include damage to the different organs like liver, heart, pancreas, etc., and may also lead to arthritis. Since the condition is difficult to reverse, treatments and diet must go hand in hand to reduce the iron overload.