Hemochromatosis: symptoms, causes and treatment

Definition

What is hemochromatosis?

Hemochromatosis or hemochromatosis is a disorder that causes the body to absorb too much iron from food, causing the body to experience excess iron levels.

Under normal conditions, iron is actually one of the important nutrients whose job is to help hemoglobin in red blood cells to carry oxygen to organs and tissues.

The process of absorption of iron from food to meet the needs of the body is carried out by the intestines. The amount of iron that is absorbed is useful for replacing the small amount of iron in the body that is lost every day.

However, if a person has a hemochromatosis disorder, the amount of iron absorbed by the body is far more than what can be used.

The excess iron will be stored in your organs such as the liver, heart and pancreas. If in excess, this iron can cause toxins to the tissues and organs of the body.

In fact, too much iron can be life threatening. Launching the Centers for Disease Control and Prevention (CDC) page, hemochromatosis can cause diseases such as liver cancer, heart arrhythmias, arthritis, diabetes, and liver cirrhosis.

This disease can be divided into 2 types based on the cause, namely primary and secondary. In primary hemochromatosis, the disease is caused by a genetic mutation that is hereditary. Meanwhile, secondary types usually occur due to disease or other health conditions.

How common is this disease?

Hemochromatosis is a condition that can happen to anyone. However, men tend to experience this more often than women and it occurs at the age of 50-60 years.

Most people with hemochromatosis do not know if they actually have it, especially if the disease is present from birth.

Although hemochromatosis is an inherited disorder that can show early symptoms, there are also people with this condition who do not experience any symptoms or complications.

You can minimize your chances of developing hemochromatosis by reducing your risk factors. Please consult your doctor for more information.

Signs & symptoms

What are the signs and symptoms of hemochromatosis?

As previously mentioned, the symptoms of hemochromatosis do not always appear. The early signs and symptoms of this disease often resemble other common symptoms.

The common symptoms of hemochromatosis are as follows:

• Pain in the abdomen
• The body is tired and limp
• Dark grayish skin
• Joint pain
• Lack of energy
• Hair and body hair loss
• Loss of sexual desire
• Lose weight
• Have heart failure
• Experiencing liver failure

Symptoms experienced by women with hemochromatosis usually begin to appear after menopause because their bodies no longer lose iron through menstruation and pregnancy.

Hemochromatosis is a congenital disorder that usually causes initial symptoms in the form of severe fatigue, joint pain, abdominal pain, weight loss, and loss of sex drive.

When this disease gets worse, a person can also experience arthritis, liver disease (cirrhosis), liver cancer, diabetes, heart disease, and skin discoloration.

According to the U.S National Library of Medicine, mild or severe symptoms of hemochromatosis can be influenced by environmental and lifestyle factors.

There may be other signs and symptoms not listed above. If you are nervous about a symptom, contact your doctor immediately.

When should you see a doctor?

Immediately consult a doctor if you experience the above signs and symptoms of hemochromatosis. If you have a family that has hemochromatosis, ask your doctor about genetic testing.

Genetic testing can help determine if you have genes that increase your risk of hemochromatosis.

Everyone's body reacts differently, so immediately consult a doctor for the best treatment according to your condition.

Cause

What causes hemochromatosis?

As previously mentioned, this disease can be divided into 2 types based on the cause, namely primary and secondary.

Primary hemochromatosis

The cause of primary hemochromatosis is due to mutations or changes in genes that control the amount of iron in the body from food. These mutated genes are generally hereditary.

Mutations that cause hemochromatosis are passed from parent to child. There are several types of gene mutations in hemochromatosis, namely hemochromatosis type one, type two, type three, and type four.

Normally, the proteins produced by these various genes play an important role in regulating the body's absorption, transportation and storage of iron.

If there is a mutation or change in these genes, the control of iron absorption in the body will be damaged. As a result, iron builds up in tissues and organs so that it can interfere with their proper function.

You can only develop this condition if you have both abnormal genes and are able to pass them on to your child. However, not everyone who has two genes can experience symptoms of hemochromatosis related to excess iron in the body.

Meanwhile, if you only have one abnormal gene, it is very unlikely that you can develop hemochromatosis.

You might just be a bearer (carrier) a gene mutation that can pass it on to the next generation.

Your child will have the chance to develop hemochromatosis later, but if he also inherits the abnormal gene from your partner.

Secondary hemochromatosis

Secondary hemochromatosis can also occur as a complication of a disease or other health condition that triggers iron buildup in the body.

The following are some examples of diseases and health conditions that can cause hemachromatosis:

• Anemia
• Thalassemia
• Rare genetic diseases, such as atransferrinemia and aceruloplasminemia
• Chronic hepatitis C infection
• Liver damage due to alcohol dependence
• Steatohepatitis

Other health conditions that also cause excess iron levels in the body include:

• Blood transfusion
• Take iron pills or supplements coupled with high vitamin C intake (vitamin C can help iron absorption in the body)
• Dialysis in patients with kidney disease

Risk factors

What increases your risk of developing hemochromatosis?

Factors that increase your risk of developing hemochromatosis are:

1. Family history

If you have either a parent or sibling with hemochromatosis, you tend to have a higher risk of the disease.

If you have a family history of alcoholism, liver disease, arthritis or impotence, your risk of developing this disease is also greater.

2. Male gender

Men are more likely to have the risk of signs and symptoms of hemochromatosis at a young age. Meanwhile, for women, the risk increases when entering menopause and after hysterectomy surgery (remove the uterus).

This is because women usually lose iron during menstruation and pregnancy. However, if you have experienced menopause and hysterectomy, iron levels can build up in the body.

3. Underwent a blood transfusion procedure

People who regularly undergo blood transfusion procedures are also at risk for developing this disease. Some of them are people with thalassemia and anemia.

Therefore, it is not uncommon for hemochromatosis to be called a complication of thalassemia, especially as a result of the continuous blood transfusion process.

Medicines & Medicines

The information provided is not a substitute for medical advice. ALWAYS consult your doctor.

What are the usual tests to diagnose this condition?

The medical team will make preparations for a diagnosis, starting from medical records, blood tests, and physical examinations.

The final diagnosis depends on the search of specific white blood cells in the blood cells.

The results will be submitted to a blood specialist (hematologist). A bone marrow biopsy may also be done.

In this biopsy, the hermatologist will take a sample of bone marrow to be studied under a microscope and perform additional tests on the bone marrow sample.

What are the treatment options for hemochromatosis?

The best treatment is to remove iron by drawing blood once or twice every week until the iron level approaches normal. This procedure is called a phlebotomy.

If the phlebotomy procedure is not effective at reducing excess iron levels, drugs such as deferoxamine can also be given.

Your doctor will usually advise you not to drink alcohol, especially if your liver has been damaged.

Avoid taking iron supplements and using cookware that contains iron.

You should also avoid eating raw seafood (preferably cooked thoroughly) and foods made of iron, such as breakfast cereals with a high iron content.

Home remedies

What are some lifestyle changes or home remedies to treat this condition?

Lifestyle changes that can help treat hemochromatosis include:

• Avoid supplements and multivitamins that contain iron. This can increase iron levels in the body.
• Avoid alcohol. Alcohol increases the risk of liver damage. If you have liver disease and hereditary hemochromatosis, avoid alcohol completely.
• Avoid eating raw shellfish. People with hereditary hemochromatosis are prone to infections, especially those caused by some bacteria in raw shellfish.
• Drinking tea. Drinking tea is thought to inhibit iron storage due to the active compound content of tannins in it.

If you have any further questions, please consult your doctor for a thorough understanding and the best solution for you.