Everything You Need to Know About Thalassemia

Hematology | by Dr. Shubham Bhattacharya | Published on 22/03/2023

Thalassemia is a genetic blood disorder that affects the production of haemoglobin, the protein that carries oxygen in the blood. People with thalassemia have an abnormal form of haemoglobin, which can cause anaemia, fatigue, and other health problems. Thalassemia is a severe condition that requires ongoing management and treatment. This blog contains information regarding thalassemia and how you can cope with the condition. Please note that this blog is for informational purposes only and does not replace the significance of a doctor’s consultation. 

How Does Thalassemia Occur?

Thalassemia is caused by mutations in the genes that produce haemoglobin. There are primarily three types of thalassemia - Beta thalassemia, which includes the subtypes major and intermedia, Alpha thalassemia, which includes the subtypes haemoglobin H and hydrops fetalis, and finally Thalassemia minor. 

Alpha thalassemia occurs when there is a problem with the production of alpha globin chains, which are part of the haemoglobin molecule. There are four genes that produce alpha globin, and people with alpha thalassemia may have mutations in one or more of these genes. The severity of alpha thalassemia depends on how many genes are affected.

Beta thalassemia occurs when there is a problem with the production of beta-globin chains, which are also part of the haemoglobin molecule. There are two genes that produce beta globin, and people with beta-thalassemia may have mutations in one or both of these genes. The severity of beta thalassemia depends on the type and number of mutations.

What Are The Symptoms of Thalassemia?

The symptoms of thalassemia can vary depending on the type and severity of the condition. People with thalassemia may experience fatigue, weakness, shortness of breath, and pale skin. They may also have an enlarged spleen, jaundice, and bone deformities. In severe cases, thalassemia can cause heart problems and other complications.

How is Thalassemia Diagnosis? 

Thalassemia is typically diagnosed through blood tests that measure the levels of haemoglobin, red blood cells, and other blood components. Genetic testing may also be used to identify mutations in the genes that produce haemoglobin. 

What Are The Treatment Options For Thalassemia?

The treatment of thalassemia depends on the type and severity of the condition. Mild cases may not require any treatment, while more severe cases may require ongoing care.

Blood transfusions are often used to treat thalassemia, as they can provide the missing haemoglobin that the body is unable to produce. However, regular blood transfusions can lead to complications, such as iron overload, which can damage the liver and other organs.

Another treatment option for thalassemia is bone marrow transplantation. This procedure involves replacing the patient's bone marrow with healthy bone marrow from a donor. Bone marrow transplantation can cure thalassemia in some cases, but it is a complex procedure that carries risks and is not suitable for everyone.

Can Thalassemia Be Prevented?

To prevent thalassemia, individuals with genetic mutations can undergo genetic counselling and testing before starting a family. In case both partners are diagnosed with the condition, the couple can opt for in vitro fertilization (IVF) with pre-implantation genetic diagnosis (PGD) to select embryos without the thalassemia mutation before implantation. 

Additionally, patients with thalassemia can take certain measures which can prevent complications associated with the condition. Avoid iron supplements unless prescribed by a healthcare provider, and get regular blood transfusions or bone marrow transplants if necessary.

Conclusion:

Thalassemia is a genetic blood disorder that affects the production of haemoglobin, which can cause anaemia, fatigue, and other health problems. The condition can be mild or severe, and treatment options depend on the type and severity of the thalassemia. While there is no cure for thalassemia, ongoing management and treatment can help to manage the symptoms and improve the quality of life for people living with the condition. 

FAQs

What is the beta thalassemia trait?

Beta thalassemia refers to a blood disorder where the body is unable to produce adequate amounts of haemoglobin, the iron-containing protein in red blood cells that carry oxygen throughout the body. As a result of reduced production, the oxygen levels in the body are significantly reduced. 

Can thalassemia be cured?

Yes, thalassemia can be cured using different treatment methods depending on the severity and medical health of the patient. Stem cell or bone marrow transplants are very effective methods for thalassemia treatment. 

What causes thalassemia?

Thalassemia is usually caused due to mutation in the gene of the cells that make the haemoglobin. Heredity is one of the major factors which can progress the condition. 

Is thalassemia cancer?

Thalassemia is a genetic disorder which reduces the production of haemoglobin. Researchers are not certain whether thalassemia is cancer or can result in cancer but recent studies suggest a higher risk of developing malignancy. 

What are the complications of thalassemia?