Hemochromatosis is the abnormal accumulation of iron in parenchymal organs and the most common form of iron overload disease. It may be inherited or acquired.
The patients suffering from hemochromatosis have the following clinical picture.
The following investigations are helpful in establishing the diagnosis of hemochromatosis.
Hemochromatosis is treated according to the following principles.
For the treatment of complications, surgical intervention may be needed. Liver transplantation is necessary in end stage liver disease and surgical arthroplasty is required in case of severe arthropathy .
The prognosis of the patients suffering from hemochromatosis is not good . Phlebotomy improves the prognosis at any stage of the disease. If hemochromatosis is detected early, phlebotomy may help prevent cirrhosis. If cirrhosis has already occurred, phlebotomy is still helpful in reducing the complications of the cirrhosis such as variceal bleeding from the esophagus. Up to 23% of the patients suffering from hepatic cirrhosis due to hemochromatosis develop hepatocellular carcinoma .
Depending upon the etiology, hemochromatosis can be classified as primary and secondary. Primary or idiopathic hemochromatosis is an inherited disease with an autosomal-recessive pattern. The defective gene is named HFE and is present on the short arm of chromosome 6  . Other mutations have been described in rare cases.
Secondary causes of iron overload are hemolytic anemias such as thalassemia in which multiple blood transfusions are required .
In the United States, the prevalence of hemochromatosis is 1 in 200 to 500 individuals. It is the most common autosomal-recessive inherited disease . Hemochromatosis usually occurs in men above the age of 50 years.
Women are affected much less commonly as the loss of iron in menstrual bleeding prevents the accumulation of iron. Hemochromatosis is 6 times more common in whites as compared to blacks.
The normal iron content of the body is 3 to 4 grams. In hemochromatosis, there is excessive iron deposition in many organs throughout the body including the liver, pancreas, heart, adrenals, testes, pituitary and the kidneys. The iron is deposited in the form of hemosiderin. Deposition of hemosiderin causes fibrosis and functional failure of these organs which manifest as signs and symptoms of the disease .
In symptomatic hemochromatosis, the total iron content of the body is around 20 to 40 grams. In the pancreas and liver, the iron content may even be up to fifty to hundred times that of normal.
There is no effective preventive measure against the development of primary hemochromatosis. Secondary hemochromatosis can be prevented by prompt anticipation or diagnosis of any condition that could cause overload of iron (such as multiple blood transfusions and hemolytic anemias such thalassemia). Precautions can then be taken to reduce the likelihood of accumulation of iron.
Hemochromatosis is the condition in which there is excessive accumulation of iron in all the body tissues, particularly the liver, pancreas, heart, kidney and pituitary gland .
Hemochromatosis may be idiopathic or may result from secondary causes of iron overload. The patients present with deep bronze pigmentation of the skin. Liver cirrhosis and diabetes due to secondary pancreatic insufficiency are the most common features. The treatment of hemochromatosis consists of phlebotomy and chelation therapy.
Hemochromatosis is a condition in which the amount of iron in the body is increased. It accumulates in various organs of the body and interferes with their function. The patients usually have bronze discoloration of the skin along with failure of the liver and pancreas. The prognosis of the patients suffering from hemochromatosis is not very favorable.