Hemochromatosis – Causes, Pictures, Symptoms And Treatment

Iron is required in small quantities by our body as it’s a part of cells, enzymes and proteins like hemoglobin; which help the body in respiration, digestion and other necessary function. A normal body meets the daily requirements of iron and then excretes the excesses.

Hemochromatosis is a disease in which abnormally high amount of iron starts to get absorbed from the food intake in the body and exceeds the required amount; which is 2.5-3.5g, whilst it can go up to 50g in people with Hemochromatosis.

Causes of Hemochromatosis:

There are five types of Hemochromatosis:

  •  Hereditary hemochromatosis: It is a hereditary disease passed down in the genes and hence is contracted at birth. So this is more likely if Parents or blood relatives have it. In it two flawed genes from each parent combine to cause the disease so both parents have to be carriers of the faulty gene. The gene in question is the HFE gene, and the two common mutations for this areC282Y and H63D one of which is found in 85% of the people with hemochromatosis. To contract the disease both genes must be received, only one gene makes you a carrier but it wouldn’t cause the disease.
  • The other type is Secondary/Acquired Hemochromatosis. This one occurs due to other diseases and disorders like thalassemia, Cirrhosis, anemia and even problems such as alcohol abuse can result in the Hemochromatosis. Blood transfusions can also cause it.
  • Juvenile Hemochromatosis occurs by a mutation in the HJV gene and starts the damage earlier than the hereditary hemochromatosis as iron starts to accumulate in early age and symptoms start appearing in childhood and adolescence rather than in adulthood as is the case in hereditary hemochromatosis.
  • Neonatal Hemochromatosis is thought to be an auto-immune disease in which iron starts to build up rapidly in the liver of a developing fetus and is a severe version of the disorder.

Males are more likely to suffer from the disease as women lose iron in their menstrual flow so until menopause they are protected from the disease.

Symptoms of Hemochromatosis:

Hereditary Hemochromatosis often doesn’t get detected early as no noticeable symptoms appear. The symptoms are non-specific in the early stages and may be attributed to other common ailments. In most cases the symptoms only start appearing in middle age and not before even though the iron build up starts at birth, it still takes decades to start impairing normal body function.

The excess iron starts to get deposited in the tissues of major organ: initially in the liver and then moves on to heart, pituitary gland, and elsewhere in the body. Left untreated, the resulting damage to the liver, heart, and pancreas may ultimately result in death.

Once it starts accumulating in different parts of the body the symptoms start appearing. Early symptoms include Weakness, Fatigue and stiff and swollen joints especially the knuckles and index finger. In the advanced stages after some organ damage has occurred due to the iron deposits the following symptoms can occur:

  •  Joint pain
  • Abdominal pain
  • Generalized darkening of skin color (often referred to as bronzing)
  •  yellowing of the skin and eyes (jaundice)
  • Weight Loss
  •  excessive hunger and thirst
  •  If iron builds up in the pituitary gland the following symptoms may appear. If iron accumulates in the heart muscle it causes irregular heart beat and heart failure which in turn will lead to shortness of breath and swelling of ankles.
    • o   Loss of body hair
    • o   Loss of sex drive (libido)
    • o   Impotence
    • o   frequent urination
  •  Diabetes may develop from this as well.
  • Joint Pain can lead to full onset of arthritis.
  • Liver is the worst affected organ and the damage to it can progress to cirrhosis, liver failure and liver cancer.

Diagnosis &Treatment:

If someone is experiencing the above mentioned symptoms the first thing to do is to make an appointment with a doctor and getting a definitive diagnosis.

As early symptoms are common ones diagnosing it early is a difficult task. But when a doctor suspects it, initially there is a physical examination in which the doctor looks for swelling of the liver or spleen or any such indicator and also skin color changes. If that is indicative of the disease then there are several ways to proceed: There are Blood tests which check for the amount of iron in the blood and tissues e.g.

  • Serum transferrin saturation:It measures the amount of iron bound to a protein (transferrin) that transports iron in the blood. Abnormally high values of Transferrin saturation are when it is over 45%.
  • Serum ferritin:It measures the amount of iron stored in the liver. If the results of your serum transferrin saturation test are higher than normal, your doctor will check your serum ferritin.
  • Liver Biopsy: This is done when the Serum ferritin and serum transferrin saturation are abnormal, in order to measure liver function and damage due to iron.
  • Gene Mutation tests can directly find the gene which causes hemochromatosis.

Once it is diagnosed then the good news is that it is treatable. As the objective is to remove the excess of iron from your blood and tissue, the easiest and foremost way to do this is to by removing blood weekly—just like donating it, an amount is extracted weekly and in fact it is safe to donate as well. This process is known as Phlebotomy. The frequency and amount of blood depends on the iron levels in the body, age, sex, weight etc. If due to anemia or heart problems or some such disorder blood can’t be removed frequently then there is an alternative method whereby a medicine is injected or taken via the mouth weekly so that the body removes iron from the body through stool and urine.

The length of the treatment also varies according to age, sex, and other such factors and the amount of excess of iron in the blood. It may take a few months or even years so managing it is very important.

The treatment alleviates a lot of the symptoms and slows down the progress of some others. Diseases like cirrhosis and joint pain, which can’t be cured through this treatment and have to be additionally treated. The treatment enables a person to have the same life expectancy as a normal healthy person. All first degree relatives of someone with hemochromatosis should be screened for the disorder.

There are certain dietary changes which are recommended for a person with hemochromatosis as iron is absorbed through the digestive tract:

Iron or iron containing multivitamin supplements have to be avoided.

Vitamin C supplements increase iron absorption so one can’t take those.

Alcohol damages the liver which is already damaged by the disease so that has to be avoided as well.

Hemochromatosis is leaves the person vulnerable to infections and shellfish have bacteria which may prove overly harmful so the consumption of that should also be limited.

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