Everything You Need to Know About Thalassemia

Have you recently been diagnosed with thalassaemia? You might feel worried or even scared right now. That’s completely normal. But truly, there’s no need to panic.

Thalassaemia is a condition where the body cannot produce enough healthy haemoglobin—the protein in red blood cells that carries oxygen. This can lead to low haemoglobin levels, causing tiredness or weakness. With early diagnosis and proper treatment, you can still live a happy and healthy life. 

But what exactly is this condition, and how can it be treated? You can consult our Hematologist to get personalised guidance and the best treatment options for managing Thalassaemia effectively.

What is thalassaemia?

Thalassaemia is known as an inherited blood disorder. "Inherited" means it is passed from parents to their children through genes. These genes carry instructions that influence various traits, such as appearance and the risk of developing certain health conditions.

In this condition, your body struggles to make enough haemoglobin—the vital part of red blood cells that carries oxygen from your lungs to the rest of your body. When there isn’t enough healthy haemoglobin, your body doesn’t get the oxygen it needs, which leads to anaemia.

As a result, people with thalassaemia may have fewer and smaller red blood cells, which means the blood cannot carry as much oxygen. That’s why you may feel tired and weak.

The Different Types of Thalassaemia: Alpha, Beta, Major & Minor

Thalassaemia is mainly classified based on which part of the haemoglobin is affected—either the alpha globin chain or the beta globin chain. It’s also divided into major or minor forms, depending on how severe it is.

Alpha Thalassaemia

This type involves the alpha globin genes. We all have four genes that help make the alpha chains of haemoglobin. The severity depends on how many of these genes are faulty:

• One missing gene: Called a silent carrier, usually with no symptoms.
• Two missing genes: Known as alpha thalassaemia trait, which may cause mild anaemia.
• Three missing genes: Leads to haemoglobin H disease, causing moderate to severe anaemia.
• Four missing genes: Causes hydrops fetalis, a serious condition that typically leads to still birth or death shortly after birth.

Beta Thalassaemia

This type affects the beta globin genes. Each person has two such genes.

• One faulty gene: Known as beta thalassaemia minor (carrier state), usually causing mild anaemia or no symptoms.
• Both genes affected: Called beta thalassaemia major (also known as Cooley’s anaemia), leading to severe anaemia that needs regular treatment.

Thalassaemia Major vs. Minor

• Thalassaemia minor (trait): People may not feel any different or might have only mild anaemia. They can, however, pass the gene to their children.
• Thalassaemia major: A more serious form that causes significant health problems and needs lifelong care.

What are the symptoms of thalassaemia?

Symptoms largely depend on how many genes are affected and whether it is a mild or severe form.

In mild cases (thalassaemia minor)

• Some may feel slightly tired or notice mild anaemia in routine tests.
• Might feel tiredness and weakness
• Pale skin or yellowish tint
• Slow growth and delayed puberty in children.
• Bone changes, especially in the face and skull, because the body tries to produce more blood to compensate.
• Enlarged spleen (felt as a swelling in the abdomen).
• Dark-coloured urine

What causes thalassaemia?

Thalassaemia is caused by changes (mutations) in the genes that make haemoglobin. These gene changes are passed from parents to their children. 

• If a child gets the faulty gene from only one parent, they become a carrier (called thalassaemia minor). They usually do not have serious health problems.
• If a child gets faulty genes from both parents, they may develop thalassaemia major or intermedia, which are more serious.

Thalassaemia is more common in people from South Asia, the Middle East, Africa, and the Mediterranean. This is partly because carrying the gene once helped protect against malaria.

How is thalassaemia diagnosed?

Your doctor will recommend a few tests, including:

• Complete blood count (CBC): This helps your doctor check for anaemia and the size and shape of your red blood cells.
• Haemoglobin electrophoresis: This helps identify different types of haemoglobin and detect any imbalance.
• DNA tests: Can confirm mutations in the genes responsible.

Sometimes, babies are screened at birth, or parents may have genetic tests during pregnancy to see if the baby is at risk.

What treatments are available?

The treatment for thalassaemia depends on how severe your condition is.

For minor cases:

In minor cases, no treatment is usually needed. Most people live normal, healthy lives. They just need regular check-ups to monitor their health.

For major condition:

In major cases, you may require medical attention, such as:

• Regular blood transfusions: Often needed every 2 to 4 weeks to keep haemoglobin levels normal, support growth, and maintain daily energy.
• Iron chelation therapy: Frequent transfusions can lead to too much iron in the body. Your doctor may prescribe medicines such as deferoxamine or deferasirox. These medicines help remove extra iron from your body and protect your organs.
• Folic acid supplements: This helps your body make new red blood cells.
• Monitoring for complications: Regular checks of the heart, liver, and hormone levels are important. 

In some cases, if the spleen becomes too large, it may need to be removed.

Final words

Thalassaemia is an inherited blood disorder that reduces the body’s ability to make healthy haemoglobin, leading to anaemia. It can be mild or more serious. With proper medical care, people can manage their condition and live a healthy life.

FAQs

Is beta thalassaemia trait dangerous?

No, beta thalassaemia trait (minor) is not dangerous; it generally causes only mild anaemia, and most people lead completely normal lives.

Can two thalassaemia minors get married?

Yes, they can, but it’s wise to have genetic counselling first since there’s a 25% chance their child could have thalassaemia major.

Can thalassaemia be prevented or cured?

While it can’t be prevented after birth, genetic testing helps reduce the risk in future families. A bone marrow transplant is currently the only known cure.

Is thalassaemia hereditary?

Yes, it is passed down through genes from parents to children.

What is the life expectancy of someone with thalassaemia?

With proper treatment, many people live well into their 40s–60s or beyond, enjoying a good quality of life.