Haemochromatosis is one of the most common genetic conditions in the U.S. Read and know all about the causes, symptoms, diagnosis and treatment of this disease.
What is Haemochromatosis?
It is an acquired disorder that is characterized by the accumulation of large amounts of iron in the body. Believed to be a rare condition three decades ago, this disorder is now supposed to be carried by 1 in every 10 people in the United States.
Haemochromatosis Symptoms
The human body requires iron for diverse health functions, such as manufacturing red blood cells that act as carriers of oxygen. However, an excess of iron can be toxic for the system. The human body is unable to dispose of high amounts of unwanted iron too quickly. As a consequence, it accumulates in the tissues leading to disorders and damage.
Most individuals diagnosed with this condition do not display any symptoms. Symptoms, even when diagnosed, can be hard to detect as they tend to be mild in the initial stages.
Though the condition may be present in the body of a victim right from the time of his or her birth, the symptoms of this disorder usually manifest themselves once the patient gets older. Some of the most common symptoms of Haemochromatosis include lethargy, stiffness and joint pain or Arthritis. Sexual problems may be an early sign of this condition. Loss of menstruation in women and impotence in men may indicate this problem.
The skin of patients may also assume a bronze-like appearance. Victims may suffer from loss of weight and abdominal pain. Sex life of suffering men and women may deteriorate rapidly.
In the advanced phases of this condition, more serious symptoms may arise due to build-up of iron. These include:
- Arthritis
- Diabetes
- Cardiac problems
- Severe liver damages
Problems in organs, such as heart and liver, can be extremely severe in nature and may give rise to fatal consequences. Haemochromatosis is more fatal for men as they do not lose iron periodically like women. Naturally, the iron that they take up from foods constantly accumulates in their vital body organs and causes serious damage to them. Lack of proper and timely treatment can result in life-threatening complications.
Haemochromatosis Causes
This condition is usually a result of excessive accumulation of iron in the human body. This can happen due to two different factors. Based on the causative factor, Haemochromatosis is differentiated into two types. These two types of Haemochromatosis are:
Primary Haemochromatosis
It results from a mutation in the human body of a gene that is related with Hereditary Haemochromatosis. It is the HFE gene that influences the quantity of iron that is absorbed from food items.
The primary form of this disease also occurs as a side-effect of a blood transfusion that is carried out to improve iron levels in the bloodstream. This is a highly common genetic condition in the United States and is found in 1 out of every 200 to 300 inhabitants of the U.S.
Secondary Haemochromatosis
This condition is a result of underlying health problems like Sideroblastic anemia or Thalassemia. It occurs in individuals who have to undergo excessive blood transfusions. Patients of conditions like Chronic Alcoholism or Hemolytic Anemia are at high risk of suffering from Hemochromatosis. Anemic individuals, particularly those suffering from diamond-blackfan, beta-thalassemia major or sickle cell variations, need frequent blood transfusions. Frequent transfusions help restore hemoglobin and RBC count but lead to the problem of an excessive accumulation of acquired iron in the bloodstream.
Hereditary Haemochromatosis (HH)
It is a genetic condition that occurs due to inheriting two defective copies of a gene known as the HFE gene. The HFE gene consists of information for manufacturing the protein that governs absorption of iron in the body. If HH is left untreated, the surplus iron is stored in tissues and organs. This results in disorders like:
- Arthritis
- Cardiomyopathy
- Cirrhosis of the liver
- Diabetes
High levels of iron in the human bloodstream may not be present with any other symptoms. HH is most common in individuals of North European or UK origin.
This disease is also known as Genetic Haemochromatosis. In men, the onset of this condition is between 40-60 years of age. It may appear still later in women. The symptoms usually arise earlier in men than in women as the latter lose iron through blood loss during menstruation and childbirth.
Haemochromatosis Diagnosis
The diagnosis of this condition is generally done with the aid of a blood test that checks for increase in the level of iron in the bloodstream. A simple blood test is routinely conducted these days to check for abnormalities in the HFE gene. It is enough to diagnose a majority of cases of Haemochromatosis. A liver biopsy is often conducted in patients displaying symptoms of this disease to assess the extent of liver damage and affirm the presence of surplus iron.
Screening of relatives of patients with hereditary haemochromatosis is usually recommended now using the HFE gene blood test
Some doctors also use other diagnostic examinations such as medical imaging studies. In individuals with a family history of this disorder, doctors may carefully monitor a patient to diagnose early symptoms of Hemochromatosis.
Haemochromatosis Gene Testing
Genetic testing is necessary to diagnose mutation in patients suspected of suffering from Hereditary Haemochromatosis (Haemochromatosis resulting from genetic abnormalities). It can be performed to detect whether an individual has one or two copies of the defective HFE gene or none at all. The test is exact in over 8 out of 10 cases. It can correctly identify individuals having two copies of the unusual gene. However, it is unsuccessful in predicting which of the tested individuals can suffer from iron overload disease in future. C282Y is the most frequent HFE mutation while H63D is less common in nature. The test is comprehensive as it may also take into account people having Haemochromatosis due to other types of genes.
Genetic testing can be accomplished in two ways. These are:
Cheek test
It involves using a cotton swab to gather cells from the inner side of the mouth.
Whole blood test
It includes drawing a blood sample out of a vein in the arm and using it for testing.
Genetic testing may be carried out along with Genetic Counseling for couples who plan to have a family but have one or both parents suffering from Haemochromatosis or having a family history of the condition. The purpose of this test is to show whether:
- One or both parents are acting as carriers of the unusual HFE gene
- There is likelihood of any of the parents to pass the HFE genes to offsprings
Haemochromatosis Treatment
Treatments for Haemochromatosis usually involve:
- Therapeutic Phlebotomy
- Iron Chelation Therapy
- Dietary changes
- Treatments specific to complications caused by the disorder
If the symptoms of this condition are detected and diagnosed in the early stages, the treatment can be quite simple. As this condition results in an excess iron accumulation in the body, the treatment involves reducing and controlling the level of iron in the bloodstream. This can be accomplished by Phlebotomy, a process involving regular withdrawal of a minor quantity of blood at regular intervals while testing the level of iron in the bloodstream on a regular basis.
Once the elevated iron levels are restored to normal, a minor quantity of blood is transfused on a regular basis after every 2 to 4 months. Patients are recommended to undergo regular blood tests over the year.
Haemochromatosis can effectively be treated with Phlebotomy (repeated removal of blood). However, the effectiveness of treatment actually depends on the extent of organ damage before the beginning of treatment.
Cardiac problems occurring due to this disorder are often cured with diuretics and ACE inhibitor therapy.
Hemochromatosis and Therapeutic Venesection
Regular bloodletting, also referred to as Therapeutic Venesection, is the primary treatment for Haemochromatosis. One unit of blood (about 500ml) is taken up at a time. In the initial stages, iron and blood in the red blood cells may be removed every week until the iron level in the body is restored to normal. This may take a few months or more. In some cases, cure may be life-long.
Hemochromatosis and Periodic Phlebotomy
These days, treatment for this disorder frequently involves Periodic Phlebotomy (Blood Letting). This curative process involves removing around 1 pint of blood so as to lower the concentration of iron in blood. The disease is usually treated by reducing the amount of iron absorbed by the body of a patient. Patients are asked to abstain from taking alcohol and foods high in iron content. The damaged organs also require treatment.
Haemochromatosis Diet
The diet for Haemochromatosis involves cutting out certain foods from the menu as well as inclusion of some items. Food items that need to be avoided include:
- Alcohol
- Iron Supplements
- Seafood, raw as well as undercooked
- Sugary Products
Doctors advise patients to consume foods that limit the absorption of iron. These include:
- Vegetables, like kidney beans and lima
- Fruits, such as grapes and dried apricots
- Eggs
- Calcium supplements
- Whole Grain Products
- Nuts, such as almonds
- Beverages, like high-tannin tea and coffee
However, it must be made sure that the food items should be consumed along with foods imbued with iron. People suffering from liver conditions caused by Hemochromatosis should avoid consumption of alcohol as well as iron-rich foods.
Hemochromatosis Surgery
In many cases, iron level reduction helps in correcting organ damage. If arthritis is caused by this condition and does not revert by decrease in iron levels other treatments may be required. If the disorder goes undiagnosed and causes major damage to the vital organs such as the liver, pancreas or heart, surgery may be required for cure.
Haemochromatosis Management
Living with Haemochromatosis is similar to living with some other abnormal conditions involving accumulation in the bloodstream. For sufferers, it may make sense to test the level of iron in the bloodstream. Individuals suffering from thyroid problems or diabetes may require surgical operation.
Haemochromatosis Prognosis
If the condition is diagnosed and treated in time, it is possible to prevent, delay or even reverse complications. Sufferers can have a normal lifespan in such cases. Even in cases where organ damage has already occurred, cure may help prevent further deterioration and improve life expectancy. However, it may be unable to reverse the damages that have already been made.
Different individuals show different responses to treatment. Some patients undergoing multiple blood removal may suffer from fatigue and feel extremely tired. Sufferers who are in advanced phases of the condition or are receiving very aggressive treatment that tires them may require assistance in carrying out their daily activities.
In the initial stages of cure, frequent phlebotomy therapies may be required for anywhere between 6 to 34 months. The total tenure of this treatment depends on the amount of extra iron in the body. Even after this, on-going treatment may be required for two to six times on a yearly basis to prevent re-accumulation of iron in the body.
Hemochromatosis Society
It was in August 1996 that the HFE genetic mutation was discovered to be responsible for this disease. The American Haemochromatosis Society is a non-profit charitable organization that was formed in 1998. It helps the American public prevent getting this condition with the aid of Genetic Testing.
Similar organizations exist in countries like Australia, Canada, Africa and UK.
If you suspect yourself to be suffering from this condition, get in touch with qualified doctors and consult them. It is always necessary to diagnose and cure disorders as early as possible. A timely treatment of Haemochromatosis is important for avoiding possible future complications and making an early recovery.