Thalassemia major: symptoms, causes and treatment

Definition

What is thalassemia major?

Thalassemia is a genetic disorder that damages red blood cells, so that the blood cannot properly distribute oxygen throughout the body. Thalassemia major is one of these types of disease, which has another name Cooley's anemia.

The difference between thalassemia major and other types of thalassemia is its severity. This type of thalassemia is classified as severe and requires intensive treatment.

The other type, thalassemia minor, usually has a mild to moderate severity.

This disease is genetic, aka inherited. That is, it can be passed on from parents to children. That is why, someone who has family members with thalassemia is at greater risk of experiencing this condition as well.

Thalassemia can be further divided into two types based on what kind of genes are damaged. The two types of thalassemia are alpha and beta thalassemia. So, a person can suffer from thalassemia alpha major or beta major.

How common is this condition?

According to the National Human Genome Research Institute website, about 100,000 babies are born with severe thalassemia each year. This disease is more common in people of Italian, Greek, Middle Eastern, South Asian, and African descent.

Signs and symptoms

Signs and symptoms of thalassemia major

Signs and symptoms of thalassemia major usually begin to appear when a child is 2 years old.

Some of the signs that appear when a person experiences thalassemia major, namely:

• Pale skin
• Decreased appetite
• Stunted growth
• Yellowish eyes (jaundice)
• Bone thinning and brittle

There may be other signs and symptoms of this disease that have not been mentioned. For more complete information, discuss with your doctor.

Cause

What causes thalassemia major?

As previously mentioned, thalassemia is a disease caused by genetic factors. This means, there is a mutation or damage to the genes in the body.

The problematic gene has the function of producing hemoglobin. In hemoglobin, there are alpha and beta chains that can be affected by damage to these genes.

In thalassemia, the severity of this disease can be seen from how many genes are damaged, both in the formers of alpha and beta chains. Thalassemia major indicates that many genes are damaged, so that the severity of this disease is classified as severe.

Severe alpha thalassemia occurs when 3 out of 4 genes are damaged. Normally, a healthy alpha chain requires 4 normal genes.

Meanwhile, beta-chain severe thalassemia can occur if damage occurs to both genes. Unlike the alpha chain, the formation of beta chains in hemoglobin only requires 2 normal genes.

Risk factors

What are the factors that increase my risk of getting this disease?

The risk factor that plays the biggest role in thalassemia major is a family history of disease. If a person has thalassemia, this disease can be passed on to his child through the problematic hemoglobin gene.

If both people have a carrier (carrier), your risk of developing thalassemia major is even greater.

Apart from heredity, race is also believed to be influential in the emergence of thalassemia. There are people of certain races with a greater chance of getting this disease, such as people of Middle Eastern, Asian, and African descent.

Diagnosis and treatment

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

How is this disease diagnosed?

Most cases of thalassemia major will be detected when the baby is 2 years old. Based on the symptoms that appear, the doctor will perform blood tests to confirm the presence of the disease.

Through blood tests, doctors can find out abnormalities in the shape of red blood cells and mutated genes.

Thalassemia diagnosis can also be made while the baby is still in the womb. Usually, the test is done at 11 or 16 weeks of pregnancy, depending on the type of test being performed.

How to treat thalassemia major?

Thalassemia major is a type that is classified as severe. That is why, the treatment given will be more intensive. One of the common treatments for thalassemia major patients is routine blood transfusion, which is every few weeks.

In addition, there is also the treatment of thalassemia with iron chelation therapy which aims to reduce excess iron levels in the blood. The drugs given in this chelation therapy are deferasirox or deferiprone.

In more severe cases, thalassemic patients may also need a bone marrow transplant. However, the risk of this procedure is also high.

Prevention

What can I do to prevent or alleviate this condition?

People with thalassemia major can also make some lifestyle changes so that they can live a normal life, namely by following the following methods:

• Avoid foods, drinks, or supplements high in iron
• Choose a diet rich in calcium, vitamin D and folic acid
• Maintain overall health to avoid infection

Although it cannot be completely cured, you can reduce the chances of having a child with thalassemia by doing several tests. You can do prenuptial screening or consult an obstetrician to plan your pregnancy.