Hemochromatosis (hereditary): what is it, symptoms, has a cure?

What is hemochromatosis?

The hemochromatosis  is a hereditary disease caused by deposits of iron in body tissues. This deposition occurs because there is a constant excess of metal in the blood.

It can take years for the patient to realize that he has the disease, since the accumulation of iron happens little by little and only after a certain point the symptoms are present.

The disease is extremely common in Caucasian people, affecting 1 in every 200 people of Nordic or Celtic origin. The incidence of the hereditary version in the general population is 0.5%. In ICD-10, it can be found by reference E83.1.

Types

Type 1

Also called classic hereditary hemochromatosis , type 1 of the disease is of a recessive genetic character . There are two variations of it, but in both, the mutation happens in the HFE gene. In each variation, a different mutation occurs.

Type 1 hemochromatosis is defined by its HFE mutation, while the others are considered non-HFE.

The overwhelming majority of hemochromatosis cases fall into this type. The disease is extremely common in this version, but incredibly rare in the others. Ultimately, the symptomatic manifestation and treatment are similar.

Only the mutated gene is altered, making the cause  of iron accumulation different. There is very little variation between each.

Type 2

Although hemochromatosis is a very common disease, type 2  or juvenile hemochromatosis  is very rare. There are less than 100 registered cases in the world.

It is a more aggressive version of the disease, which shows signs much faster. It usually manifests itself before the age of 30, unlike type 1, which can take a few decades longer to accumulate enough iron for the onset of symptoms. It has an autosomal recessive characteristic .

Type 3

Even more rare than juvenile hemochromatosis, type 3 has only 50 cases described. Most cases are in Caucasians, but there are records of the disease in Asia. In this case, the altered gene is TFR2 (Transferrin 2). Like previous versions of the disease, it is recessive .

Type 4

Also called ferroportin disease , type 4 hemochromatosis is a little less rare than types 2 and 3. There are about 200 reported cases. Anyway, it is still very rare. It is the only one of the 4 versions of the disease that has an autosomal dominant characteristic .

The altered gene is located on chromosome number 2 and is called SLC40A1. It regulates ferroportin , which is a hormonal transporter that takes iron from one place to another in the body.

The mutation can cause ferroportin to be unable to carry iron or to fail to regulate itself, causing an imbalance in the body. When she is unable to regulate, the disease can appear in children.

Neonatal iron overload

Some cases of hemochromatosis in newborns evolve so fast that the accumulation of iron in the liver can lead to death before birth or not long afterwards. These cases are rare and research indicates that the cause may not be genetic, but may be related to the mother’s immune system, which attacks the baby’s liver cells. This makes the condition a secondary hemochromatosis.

Secondary iron overload

Secondary iron overload is an accumulation of iron caused by other conditions. It can be caused by different situations and is not considered a hemochromatosis, although there may be similar symptoms.

In these cases it can be cured since it is only an accumulation of iron caused by external influence. The elimination of this influence also eliminates the accumulation of metal in the body.

Causes

Primary hemochromatosis is caused by genetics. The human body is formed by 23 pairs of chromosomes, forming a total of 46 individual chromosomes, of which 22 pairs define our appearance and all the characteristics of our body, while the last pair defines our biological gender.

When an egg is fertilized by a sperm, 23 chromosomes of the man join 23 chromosomes of the woman to form the 46 of the child. If there is an error in any of these genes, it is possible that there is a genetic condition.

When a disease is recessive it  is necessary that the 2 genes of a pair are affected by the disease. However, when it is dominant , a single chromosome with the mutation can cause the disease.

This is the case of hemochromatosis types 1, 2 and 3, which can be transmitted to children with only one parent having the disease. For type 4 to pass to the child, both parents need to have type 4 hemochromatosis.

Acquired iron overload

When iron overload is acquired during life and not genetic, it is called iron overload, which can be secondary. This means that it is caused by another condition. Among the conditions are:

  • Iron-carrying anemias;
  • Major thalassemia;
  • Sideroblastic anemia;
  • Chronic hemolytic anemia;
  • Dietary iron overload (African);
  • Parenteral iron overload (including polytransfusion);
  • Prolonged hemodialysis;
  • Chronic liver disease;
  • Hepatitis C;
  • Alcoholic liver disease;
  • Non-alcoholic steatohepatitis;
  • Porphyria cutanea tarda;
  • Dysmetabolic iron overload syndrome;
  • Neonatal iron overload.

Most of these causes are unable to bring the condition to the level of iron accumulation of a hereditary hemochromatosis.

Groups of risk

Here we will deal exclusively with the risk group for hereditary hemochromatosis . To find out if there is a risk of you getting acquired hemochromatosis, just look at the “Causes” topic above. The risk of acquiring the secondary version of the disease depends on the cause and it is temporary, disappearing when the cause arises.

In hereditary hemochromatosis, the disease is genetic.

Hereditary haemochromatosis

Hemochromatosis affects men and women equally. Although it takes decades for its first symptoms to appear due to the slow accumulation of iron in the tissues, the disease is genetic and the person is born with it.

However, its symptoms are more frequent in men. This is because women lose blood through menstruation, which reduces the amounts of iron in their bodies at least once a month.

Symptoms in women usually appear only years after menopause , although this is not the norm.

There is no age differentiation. The only risk group for hereditary hemochromatosis is Caucasian . Although it can affect people of other ethnicities, the disease is much more common among Nordic descendants (Denmark, Finland, Iceland, Norway and Sweden) and Celts (people who lived in the region of Western Europe 2 millennia before Christ).

Symptoms

These symptoms usually appear in later stages of life. With the exception of type 2 (Juvenile), hemochromatosis accumulates iron slowly, throughout life. It is only after decades that the accumulation in the tissues is large enough for symptoms to arise due to damage caused by extra iron.

Symptoms of hemochromatosis are:

  • Abdominal pain;
  • Fatigue (tiredness);
  • Weakness;
  • Darkening of the skin by the accumulation of iron;
  • Loss of hair;
  • Unintentional weight loss;
  • Amenorrhea (absence of menstruation);
  • Increase in blood sugar levels;
  • Loss of libido;
  • Joint pain;
  • Heart failure and arrhythmia;

How is the diagnosis made?

The diagnosis of hemochromatosis is made through blood tests and genetic tests.

Blood test

Blood tests can measure the amount of ferritin and iron saturation. If there is too much iron in the blood, the suspicion of hemochromatosis can be raised. Ferritin should, in normal cases, be at 50 nanograms per milliliter of blood.

In hemochromatosis patients it can be up to 1000 ng / ml. However, this alone is not enough for the diagnosis of the disease, as certain conditions can cause iron overload.

You can retake the test weekly for four to six weeks to monitor your iron levels.

Genetic testing

Genetic tests are the most accurate way to identify hemochromatosis. They can be expensive, but they are accurate. The genes that cause the disease are analyzed for changes that result in the condition.

Is hemochromatosis curable?

Unfortunately, hemochromatosis has no cure . However, it can be treated and the patient can lead a normal life. In addition, in most cases, treatment is simple, although continuous, and does not cause any major side effects.

What is the treatment?

Two treatments can be used for hemochromatosis:

Flebotomia (Sangria)

The main treatment for the disease is easy, cheap and safe. Phlebotomy is a controlled withdrawal of blood, also formerly called “bleeding”.

It needs to be performed periodically to control the amount of iron that, in the body, most of which is found in red blood cells. This removes the extra iron from the body. When serum ferritin is over 1000 ng / mL, bleeding, which removes a blood bag, should be done once a week.

The method is painless and the blood is removed in the same way that blood is drawn for blood donation, the puncture with a needle. A needle is placed in the vein to be punctured and the blood is collected in the required amount.

Blood tests should be repeated every 4 or 8 weeks for follow-up. The accumulation of iron in the organs is then used to supply the blood requirement. After serum ferritin reaches 50 ng / ml, bleeding can be reduced.

Usually, this treatment does not cause problems in the body.

Medicines

Iron-scavenging drugs help the body eliminate extra iron and are used in cases of patients who cannot bleed due to other conditions, such as anemia .

The problem with medications is that they have side effects that can be very negative, like. Therefore, when there are no contraindications, bleeding is much more advantageous.

Medicines

Some medications can be used to sequester extra iron. They are more expensive and have side effects when compared to phlebotomy, but they may be necessary.

Intravenous application

This medication has intravenous application, and several side effects such as hearing loss, ringing in the ear, vision problems, among others. In addition, it takes 8 to 12 hours to apply. Until a few years ago it was the only option for drug treatment.

  • Desferoxamine mesylate ( Desferal ).

Oral application

These drugs were developed more recently. They have fewer side effects and can be taken orally, however they are not free from the effects.

  • Deferiprona (Ferriprox);
  • Deferasirox (Exjade).

Attention!

NEVER  self-medicate or stop using a medication without first consulting a doctor. Only he will be able to tell which medication, dosage and duration of treatment is the most suitable for his specific case. The information contained in this website is only intended to inform, not in any way intended to replace the guidance of a specialist or serve as a recommendation for any type of treatment. Always follow the instructions on the package insert and, if symptoms persist, seek medical or pharmaceutical advice.

Living together

When the disease is diagnosed, you only need to regularly check your iron level. The need to undergo treatment lasts a lifetime, however, if there are no contraindications for phlebotomy, the procedure can be performed as often as necessary without influencing the patient’s life too much.

Feeding, however, can be controlled to avoid extra iron build-up. Cutting iron from food is not possible as it is necessary for blood production, but a patient with hemochromatosis does not need to ingest as much iron as people without the disease.

With the right diet, some patients can reduce the amount of phlebotomies to up to 2 a year.

It is important to realize that the level of hemochromatosis in each patient is different. Its iron accumulation speed is variable, so it is not possible to make a generalized diet for everyone. Ask your doctor and talk to a nutritionist about the diet.

Do not exaggerate

In any case, foods rich in iron should be consumed in moderation. Vegetables are great sources of iron, so overdoing it should be avoided. But they also cannot be cut out of the diet altogether, as they have other nutrients.

Some foods that should be avoided are:

  • Red meat;
  • Dark green vegetables, such as broccoli, spinach and kale;
  • Cashew nut;
  • Legumes, such as chickpeas, lentils, peas and beans;
  • Tofu (soy cheese);
  • Sesame and pumpkin seeds;
  • Whole grains, such as oats and quinoa;
  • Sugarcane molasses;
  • Coriander;
  • Brown sugar.

Prognosis

When treated, the patient will have no problem living a normal life. Phlebotomy sessions can be uncomfortable, but the number of sessions gets smaller as time goes by and iron levels in the body are reduced.

Complications

When untreated, hemochromatosis accumulates iron in the organs. Symptoms usually take decades to appear because this accumulation occurs slowly since the beginning of the patient’s life, but after a certain amount of iron is present in the body, the organs begin to be damaged.

Symptoms arise and if there is still no treatment, the disease can lead to:

Liver growth

Excess iron can cause enlargement of the liver, in addition to damaging it. This can also lead to other problems like cirrhosis .

Cirrhosis

Cirrhosis is a problem caused by excess scar tissue in the liver, causing it to be seriously weakened and unable to function. This disease increases the chances of liver cancer, in addition to being terminal in itself and requiring organ transplantation.

Sexual dysfunction

Excess iron can cause problems with erection and reduced sex drive in men, as well as interrupting the woman’s menstrual cycle.

Heart problems

Hemochromatosis can lead to serious heart problems. In addition to cardiac arrhythmia , there is a risk of developing congestive heart failure. This happens when excess iron affects your heart’s ability to circulate enough blood to your body.

Pancreatitis

The accumulation of iron in organs such as the pancreas can lead to serious inflammation such as pancreatitis .

Diabetes

The diabetes is a disease that can be caused by excess iron in the body.

Arthritis

With excess iron accumulating in the joints, the patient can develop arthritis .

Neuropsychiatric problems

Iron can accumulate in the brain, causing degeneration and neurological and psychiatric problems such as depression .

Death

Due to the accumulation of iron in the organs the body can not take it and the patient can die.

How to prevent?

It is not possible to prevent hemochromatosis, since it is a genetic disease. However, some things can be done to reduce its negative effects, especially in food.

Avoiding foods rich in iron such as vegetables (broccoli, beans ) can help reduce the accumulation of the substance in the blood. However, it is not possible to cut the consumption of iron completely since it is still necessary for the body.


Hemochromatosis can be a dangerous disease and it takes time to manifest, but its treatment is simple and it is possible to live normally with it.

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