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Saturday, 28 March 2015


Hemochromatosis – Inherited Condition with Excessive Iron 

Hemochromatosis is an inherited condition wherein excessive accumulation of iron in the body or an overload arises. Those affected with hereditary hemochromatosis may have no signs or symptoms or could have severe symptoms and signs of iron overload which could include heart failure, pain in the joints, cirrhosis of the liver, diabetes, fatigue as well as darkening of the skin. It is a common genetic disorder among Caucasian in United States and could affect around 1 to 6 individuals in United States.

The body’s normal iron content is three to four grams and the total content of iron in the body is controlled carefully wherein the body tends to lose daily, one mg of iron from sweat and cells that are shed from the skin and the inner line of the intestines. In adults the intestines absorb one mg of iron from food to replace the lost iron, daily and hence there is no excess of iron in the body and when the loss of iron is greater, more iron is absorbed from food. For those with hereditary hemochromatosis, daily absorption from the intestines of iron is greater than the amount needed to make up for the losses. When the normal body is not capable of increasing iron excretion, the absorbed iron tends to accumulate in the body.

Signs and Symptoms 

A person with hemochromatosis at this rate could accumulate 20 grams of total body iron at the age of 40 to 50 and this excess deposit of iron settles in joints, liver, heart, resulting in damage to the organs with signs and symptoms of hemochromatosis.

Women suffering from hemochromatosis tend to accumulate iron at a slower pace than men since they lose more iron then men during menstruation and breastfeeding. During the initial stage of hemochromatosis there are no symptoms and most of them are unaware of the condition and it is only suspected when high level of iron blood is noted through routine blood test. Some signs and symptoms may include

  • In men, the symptoms may not show up till the age of 30-50 years. The iron deposits in the skin and the skin appears dark and since women tend to lose iron through menstrual blood loss, non-menstruating women may develop symptoms 15 to 20 year later.
  • Iron deposits in the pancreas may lead to a decrease in insulin production causing diabetes
  • Iron deposits in the heart muscle could cause cardiomyopathy leading to heart failure and abnormal heart rhythms
  • Iron accumulated in the liver could lead to scarring of the liver or cirrhosis with an increased risk of developing liver cancer.
Diagnosis – Between 30 – 50 

Diagnosis is done between the age of 30 and 50 where 75% show no symptoms. This condition is only discovered when elevated levels of iron in the blood are found at the time of routine blood test or when blood iron levels are measured in screening studies in family members of patients with this condition.

Others are diagnosed as part of the evaluation for abnormal elevation in blood levels of liver enzymes, AST and ALT though the symptoms of skin bronzing or hyperpigmentation, liver disease, diabetes, arthropathy, hypogonadism and cardiomyopathy may be present and are recommended with additional screening test like transfer in saturation and other liver and blood test.

Effective treatment for hemochromatosis is to reduce the iron content in the body by phlebotomy. Diagnosing hemochromatosis early with timely treatment could prevent damage to the liver, heart pancreas, joints and the person can maintain a normal health.

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