Thalassaemia

Thalassaemia is an inherited condition affecting haemoglobin — the chemical inside the red blood cells which carries oxygen from the lungs to all body parts. Learn more about thalassaemia’s causes, symptoms, diagnosis, treatment and prevention.

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Thalassaemia results in anaemia because of low haemoglobin and a low amount of red blood cells. For the mild form called thalassaemia trait, major treatment may not be necessary. However, persons with more severe forms may need blood transfusions on a regular basis.

Thalassaemia is seen most commonly in people who originate from the Mediterranean islands, Asia and the Middle East.

Thalassaemia Causes

Thalassaemia is caused by defects in the genes that make haemoglobin.

There are two types of thalassaemia: alpha and beta, named for the two protein chains that make up normal haemoglobin.

The type of thalassaemia that a person has depends on the type of defective gene inherited by the person.

Types of Thalassaemia

Alpha-thalassaemia

Four genes are involved in making the alpha haemoglobin chain. If one or more of the alpha haemoglobin genes are defective, the person develops alpha-thalassaemia.

Beta-thalassaemia

Two genes are involved in making the beta haemoglobin chain. If one or both of the beta haemoglobin genes are defective, the person develops beta-thalassaemia.

If one of the beta haemoglobin genes is defective, the condition is called beta-thalassaemia minor. If both of the beta haemoglobin genes are defective, the condition is severe and is called beta-thalassaemia major, or Cooley's anaemia.

Symptoms of Thalassaemia

Some babies show signs and symptoms of thalassaemia at birth, while others may not develop symptoms until they are about six months of age.

Most children with severe thalassaemia show symptoms within the first two years of life.

Symptoms of thalassaemia include:
Fatigue
Weakness
Shortness of breath
Yellow discoloration of the skin (jaundice)
Bone deformities in the face
Slow growth
Protruding abdomen
Dark urine

Thalassaemia Risk Factors

Factors that increase the risk of thalassaemia include:
Family history
Ancestry. Thalassaemia occurs most often in people of Italian, Greek, Middle Eastern, southern Asian and African ancestry. Alpha-thalassaemia affects mainly people of Southeast Asian and Chinese descent.

Thalassaemia Diagnosis

Blood tests to confirm thalassaemia may reveal a low level of red blood cells.

Blood tests may also be used to measure the amount of iron in the blood and to evaluate haemoglobin.

Blood tests may be used for DNA analysis to diagnose thalassaemia or to determine if a person is carrying defective haemoglobin genes.

Thalassaemia Complications

Possible complications of thalassaemia include:
Iron overload because of too much iron in the body, either from the disease itself or from frequent blood transfusions
Infection — thalassaemia increases the risk of developing a blood-borne infection such as hepatitis
Bone deformities and fractures — thalassaemia can make the bone marrow expand, which causes the bones to widen especially in the face and skull. Bone marrow expansion also makes bones thin and brittle, and prone to fractures especially in the spine, resulting in compression of the spinal cord
Enlarged spleen (splenomegaly) — thalassaemia often destroys a large number of red blood cells, causing the spleen to increase in size
Slowed growth rates — children with severe thalassaemia rarely reach a normal adult height
Heart problems —  heart problems, such as congestive heart failure and abnormal heart rhythms (arrhythmias), may be associated with severe thalassaemia

Treatment of Thalassaemia

Treatment options for thalassaemia include:

Thalassaemia Minor (Alpha or Beta)

Symptoms are usually mild with thalassaemia minor. There may be a need for blood transfusions occasionally, especially following surgery or child birth.

Beta-thalassaemia Major

Severe forms of thalassaemia often require frequent blood transfusions. Some patients may require a bone marrow transplant or a stem cell transplant.

Thalassaemia Prevention

In most cases, thalassaemia cannot be prevented. If one has thalassaemia or a family history of thalassaemia, genetic counselling before considering a pregnancy is advised.

Coping with Thalassaemia

Avoid excess iron. Do not take vitamins or other supplements that contain iron.
Eat a healthy diet.
Avoid infections. Protect yourself from infections with frequent handwashing and by avoiding sick people. Talk to your doctor and consider getting the flu vaccine and the pneumococcal vaccine to prevent infections.

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Thalassaemia

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