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Hemochromatosis – Excess Iron in Blood

Excess iron in blood is a condition technically called hemochromatosis. This can be a genetic irregularity which is also known as Primary hemochromatosis or hereditary hemochromatosis. However, acquired or secondary hemochromatosis is usually caused due to anemia, alcoholism and other disorder. There are two additional forms of the disease which are neonatal hemochromatosis (present at birth) and Juvenile hemochromatosis (found in children). The neonatal form of the condition is characterized by rapid built-up of iron in infants’ liver which may lead to death.

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Excess iron in blood occurs as the condition makes the body absorb and store surplus iron. This extra iron deposits and causes the body organs to become damaged. The condition may also cause failure of liver, heart and pancreas. Iron is a part of regular diet and it is highly found in red meat. Iron becomes a part of molecule called hemoglobin which is present in blood and is responsible for transportation of oxygen to all body tissues from lungs. Normally people absorb 10% of iron from food while hemochromatosis affected individuals absorb around 30% of iron from the food. Since there is no natural biological system in the body that can eradicate iron, it gets deposited and cause excessive iron in blood.

 

Causes

In hereditary cases, excessive iron in blood is primarily caused due to defective HFE gene. This gene is responsible for regulating the quantity of iron absorption from food. There are two recorded mutations of HFE which are H63D and C282Y. C282Y is the highly found in hemochromatosis cases. In individuals with C282Y mutated gene inherited from both paternal and maternal sides, the condition is intense and can cause hemochromatosis shortly. People who inherit the gene from either of the parents are usually carrier of the condition but may not be affected with it; however, they are at increased risk and may absorb iron in more amount than normal. On the other hand neonatal and juvenile hemochromatosis is not caused due to HFE mutation rather they are caused due to another gene named hemojuvelin.

 

Symptoms of Excess iron in blood

People with excessive iron in blood commonly complain about joint pain. There are other complications experienced due to this condition which includes:

 

  • Fatigue or tiredness
  • Lack of energy
  • Pain in the abdomen
  • Low libido or decreased sexual desire
  • Heart issues

 

Though the aforementioned are common symptoms of the condition, there are many affected individuals who do not experience any irregularity associated with the condition. If the condition is not diagnosed and treated timely it may lead to serious health issues such as:

 

  • Arthritis
  • Liver irregularities such as failure or enlargement
  • Pancreas damages leading to diabetes
  • Heart issues likes congestive heart failure or arrhythmia
  • Male impotence
  • Early menopause
  • Anomalous skin pigmentation
  • Deficiency of thyroid
  • Adrenal gland damages

 

Diagnosis for excess iron in blood

Thorough analysis of medical history, physical evaluation and regular blood test will help in determining the cause of associated symptoms. Such examination often provides leads and clues that may also help in ruling-out other possible causes.

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Blood test often helps in determining the amount of iron deposit in the body, whether it is too high or extremely low. Transferring saturation test disclose the amount of iron bound with protein that transports iron in the blood. Any value above 45%, detected through transferring saturation test is considered to be excessive.

 

Iron binding capacity evaluation focuses on quality of iron circulation through blood while the serum ferritin test indicates the degree of iron in liver. If either of the two diagnosing techniques indicates higher level of iron than normal, then the doctor may suggest advanced blood evaluation to detected HFE mutation to confirm the condition. Sometimes hemochromatosis may not be the cause of the condition and this can be determined if HFE mutation is not found. This will make the doctor look for other causes.

 

In some cases liver biopsy may be suggested to patients. In this test a tiny piece of liver tissue is obtained to be evaluated under a microscope. The test will allow the experts to determine the amount of iron deposited in the liver and whether there are any damages to the liver.

 

Treatment

The treatment for Excessive iron in blood or hemochromatosis is simple, safe and less expensive. The primary focus of the treatment is to rid excessive iron of the body. This process is called as Phlebotomy, which perhaps dates back to ancient Greek era and is a technique wherein blood is drawn from the body in the same ways as done to a blood-donor. Bloodletting is a nontechnical term used to refer to the process. Depending on the severity of the condition a pint of blood is drawn every week, once or twice. This procedure may be suggested for months or years unless the degree of iron in blood returns to normal range. Alongside, regular blood ferritin test should be done to monitor the iron level in blood.

 

Once the level of iron is brought back to normal range a maintenance procedure is suggested which includes donating a pint of blood every 2 months to 4 months for lifetime. In some cases phlebotomies may be needed more frequently. To determine how often blood should be drawn, an annual ferritin test is conducted along with regular follow-ups with specialist.

Hemochromatosis pictures

Hemochromatosis pictures

The organs affected with excess iron in blood

Tiredness and lack of energy are two of the symptoms of hemochromatosis

Hemochromatosis images Hemochromatosis pictures 2

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