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Thalassaemia – D

What is thalassemia?

Thalassemia is a genetic disorder of the red blood cells. Patients with thalassemia are not able to produce adequate number of red cells of good quality. This is due to a defect of the gene that controls the production of haemoglobin within red cells. Haemoglobin is a protein that acts as a carrier of oxygen and transports it to tissues in the body.

Thalassemia is a genetic disease inherited from parents who are silent carriers of the gene. It is not contagious and cannot be transmitted through blood, air, water or physical intimacy. Both boys and girls have the same predilection to get this disease.

One in 10 Malaysians are thalassemia carriers. There are 600,000-6,000,000 carriers in Malaysia and about 4000 patients suffering from thalassemia major. Majority of patients are Malays, Chinese and Sabahan Natives.

Types of Thalassemia

There are two major types of thalassemia:

  • Thalassemia carrier (Thalassemia minor)
  • Thalassemia major

A carrier is asymptomatic, without any symptoms or health problems. The condition can only be detected from a blood test. A carrier can pass down the thalassemia gene to his or her children.

Patients with thalassemia major will show signs of anaemia from between age 3 – 18 months onwards.  Sign and symptoms include:

  • Progressive pallor, constantly weak and restless
  • Severe anaemia may lead to shortness of breath or difficulty in breathing
  • Jaundice
  • Abdominal distension, caused by liver and splenic enlargement
  • Growth retardation
  • Expansion of bone resulting in thalassemic facies

How does thalassemia gene pass down to children?

Children inherit thalassemia gene from parents. If both parents are carriers, the probability of every child being affected is high.

Treatment for patients with thalassemia

Patients with thalassemia major need to be transfused one or twice a month for life. It will improve haemoglobin level and oxygen supply to the body. However, prolonged transfusions will cause iron to accumulate in vital organs. Iron overload will cause certain organs like heart, liver and endocrine glands to fail which can lead to adverse effects to the patients.

Hence, iron chelation therapy is extremely important for patients with thalassemia major. Iron chelators come in various forms either taken orally or by injections.

Other alternatives to minimise the transfusion requirements would be to perform a splenectomy. It is only indicated in certain situations.

Allogeneic stem transplantation is also one of the treatment modalities for thalassemia with a potential for cure if the patient has a matched sibling donor. Gene therapy for thalassemia is still undergoing further evaluation.

Complications of thalassemia

Patients with thalassemia major if left untreated will not survive. Causes of death may be due to severe anaemia, heart failure and infections.

Without adequate iron chelation therapy, iron overload occurs and will interfere with organ function which may lead to growth failure, failure of sexual maturation, diabetes mellitus and heart failure.

Can Thalassemia be prevented?

Thalassemia can be prevented by identifying carriers from screening test, so marriage between the two carriers can be avoided.

Is there any support group for patients with thalassemia?

Please contact the nearest hospital, health centres or the Malaysian Society of Thalassemia at http://www.thalassaemia.org.my/


Last reviewed : 16 Februari 2015
Writer : Dr. Mohd Jahangir Abd. Wahab
Translator : Dr. Sinari bt. Salleh
Accreditor : Dr. Jameela bt. Sathar