Updated: 6 May 2024, 18:51 pm IST
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What is Thalassemia?

Thalassemia is a genetic blood disorder characterised by reduced haemoglobin production, resulting in anaemia. While it can be cured with stem cell or bone marrow transplants, they are not done often as they pose significant risks. So, read on to learn everything about this disease!


Thalassemia is a inherited blood disorder! Image courtesy: Adobe Stock

Thalassemia is one of the most common inherited blood disorders. It is often referred to as a haemoglobin disorder. This genetic condition impacts human blood cells and is characterised by reduced production of haemoglobin and a decrease in the number of red blood cells. Haemoglobin, the protein in red blood cells, is responsible for transporting oxygen from the lungs to body tissues and organs. It is crucial for maintaining energy levels. A decline in haemoglobin levels can lead to severe anemia, causing significant fatigue. The symptoms and severity of thalassemia may vary depending on the type. The only definitive cure for thalassemia is bone marrow transplant. Let us understand all about this disease.

Causes of Thalassemia

Thalassemia is a genetic blood disorder caused by an abnormality or mutation in one of the genes that produce haemoglobin, the protein in red blood cells that carries oxygen throughout the body. This disease is inherited, which means that it is passed down from parents to their children through their genes. If one parent has thalassemia, their child may develop a milder form known as thalassemia minor. If both parents carry thalassemia, the child has a higher risk of inheriting a more severe form, thalassemia major.

The Centers for Disease Control and Prevention (CDC) note that thalassemia is especially prevalent in countries such as Asia, the Middle East, Africa, and Mediterranean countries, including Greece and Turkey.

Types of thalassemia

Haemoglobin molecules are made of chains called alpha and beta chains that can be affected by mutations. When you have a thalassemia condition, the production of either alpha or beta chains is reduced, resulting in either alpha thalassemia or beta thalassemia.

1. Alpha thalassemia

In alpha thalassemia, your body does not make enough alpha haemoglobin chains. Alpha globin is a building block of haemoglobin and haemoglobin is a part of red blood cells that carries oxygen throughout the body. To make an alpha haemoglobin chain, you need to have four genes, two from each parent. The severity of alpha thalassemia depends on the number of gene mutations you inherit from your parents. The more mutated genes, the more severe your thalassemia. It can range from a person without any signs and symptoms to people with haemoglobin H disease, causing moderate anemia, to the fatal hydrops fetalis (also called alpha thalassemia major).

2. Beta thalassemia

In beta thalassemia, beta globin genes are affected and it occurs when your body cannot produce beta globin. To make the beta haemoglobin chain, two genes are involved and you get one from each of your parents. If you are inherited, it varies from beta thalassemia minor, with few or no symptoms, to beta thalassemia intermedia, which may require occasional blood transfusions, and beta-thalassemia major, which requires regular transfusions for severe anemia management.

Babies born with two mutated beta-globin genes are usually healthy but develop signs and symptoms within the first two years of life.

Key Facts of Thalassemia

Major Symptoms
  • Anaemia
  • Dark urine
  • Excessive tiredness and fatigue
  • Weakness
  • Poor appetite
  • Yellow and pale skin
  • Delayed growth and development
  • Bone deformities, especially in the face
  • Abdominal swelling
Necessary Health Tests
  • Blood tests
  • Hemoglobin electrophoresis
  • Physical examination
  • Regular blood transfusions
  • Chelation therapy
  • Stem cell transplant

Symptoms of Thalassemia

Thalassemia is a blood disorder passed down through families (inherited) in which the body makes an abnormal form of haemoglobin. This disorder results in the excessive destruction of red blood cells, which leads to anaemia. In the case of anaemia, you may experience severe tiredness, weakness, shortness of breath, and pale skin. Remember, the symptoms of this disease depend on the type of thalassemia you have and how severe it is. Common symptoms of thalassemia include:

  • Anaemia
  • Dark urine
  • Excessive tiredness and fatigue
  • Weakness
  • Poor appetite
  • Yellow and pale skin
  • Delayed growth and development
  • Bone deformities, especially in the face
  • Abdominal swelling

You are at low risk of experiencing any symptoms if you are missing an alpha gene. If you are missing two alpha genes or one beta gene, you may be asymptomatic, or you may have anaemia symptoms such as fatigue and tiredness.

Diagnosis of Thalassemia

Diagnosis of thalassemia typically begins when a child exhibits symptoms of moderate to severe forms of the disease, usually within the first two years of life. If thalassemia is suspected, several diagnostic tests can be performed:

1. Blood tests

These are crucial for evaluating anaemia, haemoglobin levels, and the morphology (size and shape) of red blood cells. A complete blood count (CBC) is commonly used to identify anaemia characterised by small, pale red blood cells, which is indicative of thalassemia.

2. Hemoglobin electrophoresis

This test identifies different types of hemoglobin in the blood. It’s essential for distinguishing between various thalassemia types and other hemoglobin-related disorders by revealing abnormal hemoglobin variants.

3. Physical examination

Doctors may conduct a physical exam to look for physical signs of thalassemia, such as pale skin, jaundice, or an enlarged spleen, depending on the thalassemia’s type and severity.

Additionally, prenatal testing can be performed to detect thalassemia in unborn babies. This helps in understanding whether the child has thalassemia and the potential severity of the disease, allowing for early planning and management.

Treatment of Thalassemia

Thalassemia is a genetic disorder characterised by reduced hemoglobin and fewer red blood cells in the body than normal. Treatment strategies aim to manage symptoms and prevent complications, with methods based on the severity of the disease.

1. Regular blood transfusions

Essential for managing severe thalassemia, such as beta-thalassemia major, these transfusions replenish hemoglobin and maintain healthy red blood cell levels. However, frequent transfusions can lead to iron overload, which poses a risk of damaging vital organs.

2. Chelation therapy

This treatment is necessary to counteract iron buildup, which results from frequent or regular transfusions. Chelation therapy involves medications that remove excess iron from the body, preventing potential damage to organs. It’s crucial for patients who receive regular transfusions and can also benefit those with thalassemia who do not require transfusions but naturally accumulate iron.

3. Stem cell transplant

For some, a bone marrow or stem cell transplant offers the possibility of a cure, particularly effective in young patients with a compatible donor. This treatment can be a viable option for children with severe thalassemia, potentially eliminating the need for lifelong transfusions and iron management therapies.

These treatments not only extend life but also improve the quality of life for those affected by thalassemia. However, these options also pose some risks and may not be suitable for every patient!

Thalassemia Related FAQs

What is thalassemia caused by?

Thalassemia is caused by mutations in the genes that make hemoglobin, the oxygen-carrying protein, in red blood cells. These mutations lead to reduced or abnormal production of haemoglobin, resulting in anaemia. The severity of thalassemia depends on the specific genes affected and their mutation types.

What foods should be avoided in thalassemia?

Patients with thalassemia should avoid excessive intake of iron-rich foods, particularly if they are receiving regular blood transfusions, which can lead to iron overload. Foods high in iron include red meat, liver, and fortified cereals. It's also advised to limit vitamin C intake at meals, as it can increase iron absorption.

What is themain problem with thalassemia?

The primary issue in thalassemia is the body's inability to produce normal amounts of haemoglobin, the protein in red blood cells that carries oxygen. This results in anaemia and reduced oxygen delivery to the body's tissues, increasing the need for treatments such as blood transfusions and iron chelation to manage symptoms and prevent complications.

Can thalassemia be cured?

The only established cure for thalassemia is a bone marrow or stem cell transplant, which can be highly effective, especially in younger patients with a matched donor. However, this procedure carries significant risks and is not suitable for all patients.

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