Hemochromatosis: symptoms, diagnosis and treatment

Hereditary hemochromatosis is characterized by a massive accumulation of iron in the body.
Iron is a mineral that plays an important role in the body.
Hemoglobin is a spherical protein that contains iron and is used to transport oxygen from the lungs to the tissues.

Every red blood cell carries hemoglobin inside.
Iron is a mineral found in many foods.
As a rule, the body absorbs 10% of the iron from normal food.

With hemochromatosis, a much higher percentage of iron is absorbed.
People with hemochromatosis absorb up to three times the required iron in the body.

The body can in no way remove the excess iron that has accumulated in the body tissues, especially in the liver, heart and pancreas. The accumulated iron can cause very serious damage to these organs.
Those suffering from hemochromatosis begin to develop symptoms over the course of 20 years, although the most noticeable signs appear between the ages of 40 and 60, when the iron has reached harmful levels.
However, hereditary hemochromatosis is not a disease that only affects the elderly.
Iron accumulation can exist in men, women, adolescents and children and cause disorders.


Classification of hemochromatosis

Hemochromatosis can be divided into primary and secondary hemochromatosis.

Primary hemochromatosis (also called idiopathic or hereditary hemochromatosis) is caused by a malformation of the genes that regulate iron absorption.
Most people with primary hemochromatosis have inherited this disease from their parents.
Secondary (or acquired) hemochromatosis is the result of another condition that causes iron overload, such as anemia, chronic liver disease, or infection.

Hemochromatosis type 1
Hemochromatosis type 1 is the result of a genetic mutation. The mutated gene is called HFE and is passed on from both the father and the mother in hemochromatosis. On the basis of some genetic tests, it is possible to determine whether this mutation is present.
The HFE gene has two common mutations: C282Y and H63D.
One of these mutations is found in about 85 percent of people who have hereditary hemochromatosis.
If two abnormal genes (homozygous) are inherited, hemochromatosis may develop (about 40-50% of individuals who have inherited two genes develop iron overload).
If only one gene (heterozygous) is inherited, hemochromatosis does not develop.
One becomes a healthy carrier of the disease and can transfer the gene to one’s own children, who will not develop the disease, unless they inherit another abnormal gene from another parent.

Hemochromatosis type 2 or juvenile type
Juvenile hemochromatosis causes the same problems as hereditary hemochromatosis.
The accumulation of iron begins very early and the symptoms usually appear after 15-30 years.
Hemochromatosis type 2 is caused by a mutation of the genes HAMP (required for the synthesis of the protein hepcidin) and HJV (used for the synthesis of the protein hemojuvelin).

Hemochromatosis type 3
Hemochromatosis type 3 is caused by a mutation of the gene TfR2 (needed in the synthesis of a transferrin receptor).
It manifests itself like type 1.

Hemochromatosis type 4
Hemochromatosis type 4 is caused by a mutation of the gene SLC40A1 (used for the synthesis of the protein ferroportin).
It is the only type of autosomal dominantly inherited hemochromatosis (that is, it affects people who carry only one mutated gene).

Neonatal hemochromatosis
Neonatal hemochromatosis causes rapid accumulation of iron in the liver during the development of the fetus. This disorder is thought to be caused by an autoimmune reaction of the immune system (the body attacks itself).

Causes of hemochromatosis

Hereditary hemochromatosis is a genetic condition caused by the mutation of a gene that regulates iron absorption. In America, one in eight to ten people is a healthy carrier of the mutant gene (called HFE).
The healthy carriers have no symptoms, but can transmit the HFE gene to their own children.
Even if two mutated genes have been inherited, not all sufferers develop them.

Secondary hemochromatosis
This type of hemochromatosis occurs as a result of another disease:

  • A blood disorder such as thalassemia.
  • A chronic liver disease such as chronic hepatitis C, alcoholic liver disease or non-alcoholic fatty liver hepatitis.
  • Some types of anemia that require a blood transfusion.
  • Rare hereditary diseases that affect red blood cells, including atransferrinemia or aceruloplasminemia.
  • Drinking beer produced in iron containers (iron load).
  • Taking iron tablets or iron injections.
  • Long-term dialysis treatment.

Symptoms of hemochromatosis and consequences

Until the age of 40-50 years, patients have no symptoms or complications.
If hemochromatosis is in an advanced phase, it means that iron is present in the organs, which hinders normal functions.

Symptoms include:

  • Indisposition
  • Bronze skin colour
  • Fatigue
  • Listlessness
  • Joint pain and abdominal pain

Complications include:

  • Cirrhosis, often with prior liver enlargement, hepatic insufficiency and liver cancer
  • Diabetes mellitus type 2
  • hypogonadism and erectile dysfunction;
  • Heart failure, arrhythmia
  • Arthritis of the hands (especially the index and middle fingers), knee and ankle
  • Dysfunction of some endocrine organs (pancreas, adrenal glands, parathyroid glands, pituitary gland and testicles)

Hemochromatosis is diagnosed only after 40 years in men and after 50 years in women due to the regular loss of iron due to menstruation, which stops in menopause.

Diagnosis of hemochromatosis

The first thing to check is the blood level of ferritin, a substance consisting of iron and an outer protein capsule.
Ferritin is found in all body organs, especially in the liver, bone marrow and spleen.
Since the concentration of ferritin in the blood is the same as in the organs, blood tests can be used to see if the liver has an excess of iron.

Another basic parameter is transferrin saturation, which provides information about the protein that transports the iron.
The value of circulating iron, also called serum iron, is a value that does not have high significance because it is very variable.

Normal values of ferritin are:

  1. 20 to 120 nanograms/ml in women
  2. 20 to 200 nanograms/ml in men

The reference values of the TIBC (Total Iron Binding Capacity): 240 – 450 μg/dl (43.0 – 80.6 μmol/l).

The normal values of transferrin saturation are:

  • Men: 15 – 50%
  • Women: 12 – 45%
  • Children: over 16%

Source: wikipedia.org/wiki/Transferrin_saturation – http://emedicine.medscape.com/article/2087960-overview

If ferritin is elevated or saturation is above normal, doctors may order a genetic test to detect a mutation in HFE, which can be used to confirm the diagnosis of hemochromatosis.

If no mutation can be detected, it means that the excess iron in the body was caused by another problem.

If the diagnosis of hemochromatosis is suspected, a subsequent liver biopsy is possible to determine the level of accumulated iron.
Other blood tests commonly performed include: blood count, kidney function, liver enzymes, electrolytes, and blood sugar.
Bilirubin levels are not associated with hemochromatosis.
Depending on the patient’s medical history, the doctor may perform further special examinations to determine possible organic disorders, such as an echocardiogram for heart failure.

What is the therapy for hemochromatosis?

The most effective treatment for hemochromatosis is to reduce iron in the body by taking a blood sample from the arm vein (bloodletting).
Every 1-2 weeks, a unit amount of blood (half a liter or 500 ml) is taken, which contains about 250 mg of iron.
Ferritin saturation and transferrin are controlled every 2-3 months.
Once ferritin levels have risen above 50 ng/ml and transferrin saturation above 50%, bloodletting is reduced to once every 2-3 months or every 6 months if the patient follows a certain diet.
If hemochromatosis is diagnosed early, it can be effectively treated to prevent serious damage to the liver, heart, testicles, pancreas and joints.
In patients with cirrhosis of the liver, effective treatment can improve heart function, skin color, and existing diabetes.
Nevertheless, cirrhosis of the liver is irreversible and the risk of developing liver cancer remains.

The advantages of bloodletting are:

  • It prevents the development of cirrhosis and liver tumor if the disease is detected and treated early.
  • It partially improves liver function in patients who have already developed advanced cirrhosis.
  • It completely improves and/or cures symptoms such as weakness, liver pain, joint pain and fatigue.
  • It improves cardiac function in patients with mild and early health problems.

Natural remedies for hemochromatosis and recommendation for healthy living

For hemochromatosis sufferers, there are various pieces of advice that can be followed to improve the quality of health:

  • Check-up: regularly check the amount of iron in the blood.
  • Blood draws: make sure to have a blood sample taken every time it is necessary.
  • Iron tablets: do not take supplements containing iron.
  • Vitamin C: Vitamin C increases the amount of iron that the body absorbs. Do not take tablets containing more than 500 mg of vitamin C per day. The intake of foods containing vitamin C is sufficient.
  • Diet: do not eat raw fish or crustaceans. The cooking process destroys harmful germs for people with hemochromatosis.
  • Eat less raw meat.
  • Alcohol: do not drink alcohol.
  • Physical activity: moderate physical activity is recommended for at least 30 minutes a day.

Diet and nutrition for hemochromatosis

According to Lezaeta naturopathy and Shelton’s hygienism, genes and heredity cannot adequately explain symptoms.

Conventional medicine admits that in only 45-50% of cases with mutated HFE gene, patients develop hemochromatosis, so the genetic theory leaves many doubts. (Sources)

In the United States, the percentage of people suffering from hemochromatosis is higher than in the rest of the world due to the meat-rich diet.

  1. Animal foods contain heme iron, which the body absorbs up to 40% more easily.
  2. Plant foods contain non-heme iron, which is absorbed to a lesser extent, about 5%, due to the content of the plants in tannins and phytic acid. However, citric acid (found in lemons) and vitamin C increase the percentage by up to 20%.

To improve the amount of iron in the blood, one should avoid:

  • Meat
  • Crustaceans and mussels
  • Coffee
  • Prepared and processed ready-made meals available in the supermarket
  • Sweet
  • Chocolate
  • Excessive consumption of fish, eggs and legumes

Recommended foods are those that contain fiber that reduces iron absorption: raw foods of plant origin, vegetables, fruits, dried fruits, potatoes, Jerusalem artichokes, quinoa, amaranth and legumes (in moderation).

Whole grains and legumes contain phytate and fibre, but eating cereals is not recommended as it puts a strain on the liver due to too many carbohydrates.

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