What is Thalassemia?

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
Treatment	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!