Beta thalassemia: symptoms, causes and treatment

Definition

What is beta thalassemia?

Thalassemia is a genetic disorder that damages red blood cells. One of the most common types is beta thalassemia.

In red blood cells, there is hemoglobin which functions to transport oxygen. Hemoglobin itself consists of two globin chains, called alpha and beta chains.

People who have beta thalassemia are those who experience damage to the beta chain in their hemoglobin. Meanwhile, people with alpha thalassemia have hemoglobin with alpha-chain problems.

This genetic disease causes sufferers to experience symptoms that resemble anemia. However, the severity of thalassemia depends on the type.

How common is this disease?

This type of thalassemia is the most common found in Southeast Asia. According to the Ministry of Health of the Republic of Indonesia, an estimated 9,121 cases of severe thalassemia were found in Indonesia in 2016.

Signs and Symptoms

What are the signs and symptoms of beta thalassemia?

The signs and symptoms of beta thalassemia depend largely on the severity of the disease. Based on information from the National Organization for Rare Disorders, beta thalassemia can be divided into several types when viewed from its severity, namely minor, intermedia, and major.

1. Minor

People with beta thalassemia minor usually will not experience any signs and symptoms. Even so, there are also those who feel mild anemia symptoms.

Because they are generally asymptomatic, people with thalassemia minor usually do not realize that they have the disease.

2. Intermedia

Patients with intermedia levels may experience signs and symptoms that vary from moderate to severe. The following are characteristics that are commonly found in intermedia level thalassemia:

• Skin looks pale
• Jaundice or yellowish skin and eyeball
• Bone problems
• There are gallstones

3. Major

Beta thalassemia major, also known as Cooley's anemia, is the most severe form. Babies born with this condition will usually show signs and symptoms in the first 2 years of life.

The most common symptoms are severe anemia, including:

• Great feeling of fatigue
• Weakened body
• Hard to breathe
• Dizzy
• Headache
• Bone problems, such as more brittle or abnormally shaped bones
• Yellow skin and eyes
• Growth disorders
• Decreased appetite

Generally, because the severity is quite severe, patients need more intensive care. Unfortunately, even these treatments sometimes increase your chances of developing dangerous health complications.

When should I see a doctor?

Thalassemia is a hereditary disease. If you have a family with this condition or are worried about some of the symptoms above, see a doctor immediately.

Cause

What causes beta thalassemia?

Beta thalassemia is caused by the breakdown of beta chains in hemoglobin. This damage is caused by genetic mutations or damage to genes.

In beta thalassemia, there are two genes that will form beta chains in hemoglobin. Each gene is inherited from parents who have a thalassemia trait.

The severity of thalassemia can be determined from how many genes are damaged. If there is only one defective gene, you will have beta thalassemia minor type (or carrier / trait). carrier). This occurs when the gene is passed down from only one parent.

However, if the damage occurs in both genes, you will have thalassemia of the intermedia or major type. You will experience thalassemia major if you get the thalassemia gene from your parents.

The same thing applies to other types of thalassemia, namely alpha thalassemia. The difference between the two is the number of genes required to form alpha chains in hemoglobin.

Normal alpha chain formation requires 4 healthy genes as well. The severity of alpha thalassemia is influenced by how many genes are damaged. Here's the explanation:

• 1 in 4 defective alpha-chain genes: You may become a carrier of or carrier thalassemia without any symptoms.
• 2 out of 4 defective genes: You may have alpha minor thalassemia.
• 3 out of 4 defective genes: You may have thalassemia alpha intermedia.
• All genes are damaged: You may have thalassemia alpha major.

Triggers

What puts me at risk for beta thalassemia?

There are many factors that put you at risk for beta thalassemia, such as:

1. Family / hereditary history

If there are family members or parents who have this disease or carry genes with thalassemia traits, the chances of getting this disease are much greater.

2. Race specific

People who are of certain racial descent, such as Southeast Asian, Mediterranean, or African, have a higher risk of developing genetic diseases such as beta thalassemia.

Complications

What are the complications that can occur in people with beta thalassemia?

If beta thalassemia disease is not handled properly, there are various complications that can threaten the patient's health condition.

According to the Mayo Clinic, some of the complications of thalassemia include:

• The buildup of excess iron in the body
• Susceptible to infection
• Bone problems
• Enlarged spleen
• Stunted growth
• Heart problems

Diagnosis and Treatment

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

How is this condition diagnosed?

Beta thalassemia is a disease that can be diagnosed through a blood test. Through blood tests, doctors can find out the condition of red blood cells as well as any mutations in genes.

Some of the types of tests that are done to check the blood are:

• complete blood count (CBC)
• hemoglobin test

In addition, this disease can also be diagnosed by doing a blood test on your baby or even from pregnancy. This test is also called a prenatal test.

Prenatal testing is important for married couples who one or both of them have thalassemia. This is useful for knowing how the condition of thalassemia in the fetus in the womb.

How to treat beta thalassemia?

Both beta and alpha thalassemia patients will receive treatment according to its severity. Some of the available thalassemia treatment options include:

• Blood transfusion
• Iron chelation therapy
• Bone marrow transplant
• Spleen surgery (splenectomy)

Prevention

What can I do to overcome or alleviate it?

Here are some steps you can take to treat beta thalassemia:

• Meet with the doctor regularly for follow-up checks and follow the doctor's instructions on tests and treatment.
• Avoid consuming vitamins with iron content.
• Take folic acid supplements, if recommended by a doctor or nurse.

Always consult your doctor for the best solution to your problem.