Hereditary Hemochromatosis

Iron aids the formation of hemoglobin, which is needed to transport oxygen throughout the body. So, iron is essential but required by the body in adequate amounts. To be precise, iron contained in the body must not be more than four grams. Our body absorbs some milligrams of iron everyday, but when suffering from a genetic disorder called hereditary hemochromatosis there is an excess absorption of iron. Here, the iron content of the body can reach 18 to 20 grams. So what causes this excess accumulation of iron? Let's find out.

Small intestine is an important organ of the human body which helps to absorb iron from the food we eat. In healthy people, small intestine absorbs adequate amount of iron, but in people, there is an excess absorption of iron by the intestine. This is caused due to a defective or mutated gene. A child can suffer from this genetic disorder, only in a case where it receives one defective gene from each of the parents. Excess iron cannot be excreted from the body in any way. As a result, it accumulates and causes damage to other important organs like liver, heart and joints.

Symptoms

The symptoms of this disease may go unnoticed at a young age, as iron deposits over a long period of time, but there are some strong effects or symptoms of this disease at later stages of life. The person may experience all or few of the symptoms listed below.

Heart Diseases Enlarged Liver Diabetes Hair Loss Muscle Cramps Joint Pain

Abdominal Pain Diarrhea Nausea Depression Memory loss Impotence

Treatment Options

As I have mentioned above, this health condition can cause heart diseases, diabetes, and liver problems, so it is important to treat these problems individually. Apart from this, the main treatment is phlebotomy, which involves withdrawing one unit of blood from the body every week or two. As 75 percent of all the iron in the human body is found in the blood, drawing blood will help the body achieve normal levels of iron. However, it can take 2 to 3 years of phlebotomy process for the body to reach normal iron levels. Phlebotomy can also prevent liver diseases, heart diseases and joint pain. Early diagnosis helps to avoid severe health complications.

Possible Diagnosis

Early diagnosis of any disease is always a boon, and here, it can be lifesaving. Blood tests like serum ferritin, serum iron, and total iron-binding capacity are helpful in keeping track of rising levels of iron in blood. However, the tests, which include liver biopsy and genetic tests can provide an accurate diagnosis of the disease.

Liver biopsy
In liver biopsy iron content in the liver tissue is measured. Liver biopsy is done by removing a tissue sample from the liver by inserting a needle through the abdomen. Ultrasound or Computerized Tomography (CT) is used to locate the liver. The tissue is studied microscopically to analyze if there are signs of damage and the iron content is also measured. Biopsy also helps to determine the presence of other liver diseases like liver cirrhosis or liver cancer.

Genetic Tests
As I have said earlier, transfer of a mutated gene causes the health condition. So genetic tests help to identify it early. Genetic tests involve examining blood or body tissues to determine any genetic disorders. Parents with suspected or those with high levels of iron or if any of their family member is suffering from the disease, genetic tests should be carried out for their newborn babies. Sometimes even DNA testing can be recommended by doctors.

According to a study, 2 people out of every 200 Americans suffer from hereditary hemochromatosis, so it is not a very uncommon disease. One must look out for symptoms and undergo diagnostic tests as listed above. People who are showing the signs and symptoms should not panic, as proper treatment along with a well-balanced hemochromatosis diet and proper exercise, helps to overcome this genetic disorder.