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Anything in excess is bad for the body. The same goes with iron, which is believed to be essential for various functions.
Hereditary hemochromatosis (HHC) is a hereditary condition where the way the body absorbs and stores iron are affected, leading to excessive iron deposits in various internal organs and leading to multiple complications. Read on to know more about this condition.
Causes: HHC is caused by the mutation (alteration) of a gene that controls the amount of iron absorbed into the body. A hormone called hepcidin is secreted by the liver and controls iron absorption and storage. In HHC, the role of hepcidin is altered, leading to excess amounts of iron absorption and storage in various major organs, especially the liver. Over time, this excess iron can cause conditions like diabetes, cirrhosis, and heart failure.
Risk Factors: The condition runs in families, and if you have a family member with known HHC, the chances of having HHC are quite high. Though the disease develops right at birth, symptoms manifest only later in life, at about 50-plus years of age. Men who carry two copies of the mutated gene and hail from Northern Europeans are more prone to develop HHC.
Symptoms: There are no specific symptoms pointing to HHC in the early stages, and these include joint pains, abdominal pain, fatigue, and weakness. Over a period of time, these can lead to associated symptoms of conditions like cirrhosis, heart failure, impotence, diabetes, etc.
Diagnosis: Blood tests are done to diagnose the amount of iron in the system. Fasting transferrin saturation and serum ferritin are two important tests, and increased transferrin saturation is very indicative of HHC. In addition, liver function tests are done to check the extent of liver damage. MRI examination also will help identify the areas of iron overload and extent of liver damage (if any). Liver biopsy can help identify iron overload and liver damage. Gene mutation tests are also useful in confirming the condition.
Depending on the excessive amount of iron deposited, phlebotomy which requires removal of iron is advised. About 400 to 500 mL of blood can be removed once a week or in two weeks.
From a prevention point of view, hepatitis A and B vaccines should be given.
In very severe cases, liver transplantation could be considered.
Monitor for other symptoms like diabetes, cirrhosis and liver failure.
In addition, once the diagnosis is confirmed and phlebotomy initiated, iron levels should be monitored periodically to ensure it is not exceeding the desired levels. This can help in the prevention of complications, which are more causes for concern than the actual HHC condition per se. If you wish to discuss about any specific problem, you can consult a pediatrician.