Thalassaemia: Are You a Carrier?

Thalassaemia is an inherited blood disorder. It instigates the production of abnormal red blood cells in your body, which leads to less or fewer red blood cells. This can cause a host of health complications if left untreated.

We speak to Dr. Chan Lee Lee, an experienced paediatrician from Subang Jaya Medical Center, who reveals what you need to know about thalassaemia.

  1. Urban Health: What causes thalassaemia?

Dr. Chan Lee Lee: Thalassaemia is a hereditary disease, which means that children inherit this condition from their parents.  The transmission of inheritance is “autosomal recessive” which means that both father and mother must be thalassaemia carriers (also known as thalassaemia minor) before a child can be born with full-blown thalassaemia major.


  1. UH: How does thalassaemia affect a person’s lifestyle?

Dr. CLL: A person with beta thalassaemia major has chronic anaemia and will require regular blood transfusions throughout his or her life.  The effects of chronic anaemia will impose some restriction in physical activity while the side effects of regular monthly blood transfusions include regular hospital visits and medications to help overcome iron overload.  A person who has thalassemia minor (a carrier) is expected to lead a normal life.


  1. UH: What are the signs and symptoms of this disease?

Dr. CLL: Within six months, a baby with beta thalassaemia major will demonstrate a pale complexion, poor appetite, poor weight gain/ poor growth. Examination by a doctor will confirm anaemia that includes enlargement of abdominal organs such as the liver and spleen. Appropriate blood tests will confirm the diagnosis.   Some children demonstrate similar symptoms a little later — around 12 to 24 months.


  1. UH: What are the complications experienced by a person with thalassaemia?

Dr. CLL:  The number of complications experienced is related to the quality of treatment a patient receives.  If a patient does not receive adequate blood transfusions on a regular basis, he experiences chronic anaemia, generally becomes thin and does not achieve normal height. The facial bones will expand, giving a typical “thalassaemia face” accompanied by a bloated abdomen.  If he is following a good transfusion programme, then he should look fairly normal with satisfactory growth.  However regular blood transfusions lead to iron overload and the patient needs an efficient method to remove the excess from the body — in other words he also needs iron chelation therapy for life.  If the excess iron is not removed then complications that affect many organs will occur.  A patient with excess iron may end up with liver failure, hormonal and growth failure as well as heart failure.


  1. UH: Can you explain more about the inheritance of this disease? What are the precautions parents should take?

Dr. CLL:  As mentioned earlier, thalassaemia is an inherited disease whereby each parent contributes an abnormal gene to the child before the full-blown disease is present.  So whether you are a father or a mother, you need to know if you carry the thalassaemia gene before you decide to have a child.  If you are a carrier and your spouse is also a carrier, then you need to understand the consequences because every pregnancy has a 25 percent chance of producing a child with thalassaemia major.  If you are a carrier and your spouse is normal, then your child will be normal but you will have a 50 percent chance that every pregnancy produces a carrier (thalassaemia minor) child.

As the beta thalassaemia gene occurs in about three to five percent of our Malaysian population, all prospective parents should know their thalassaemia status and are encouraged to go for appropriate blood tests to determine their status.


  1. UH: What are some of the recommended methods to manage this disease?

Dr. CLL:  A patient with thalassaemia major needs adequate blood transfusions to ensure normal growth and development from the time of diagnosis and then for the entire lifespan of the patient.  This must go hand in hand with good iron chelation therapy so that life-threatening complications of iron overload do not occur.  The Malaysian government has given some priority to tackle the problem of thalassaemia in the country and information on this can be found on the web page of the Ministry of Health.  In addition, most hospitals are able to manage and treat patients with this disease.

Currently the only way to cure thalassaemia major is by performing a haematopoietic stem cell transplant or bone marrow transplant.  This is a major undertaking where an appropriate stem cell donor must be identified and the patient himself must be well enough to undergo the transplant.  A few specialised units in Malaysia are able to offer transplant services but parents must be fully aware of the risks and benefits before they embark on this type of treatment.


  1. UH: How prevalent is thalassaemia in Malaysia?

Dr. CLL:  Based on a recent nationwide survey, an estimated 3500 patients with thalassaemia major were identified but I believe this is far below the real number.  The carrier rate is running at three to five percent for the beta thalasasemia gene and three to 15 percent for the alpha thalassaemia gene.


  1. UH: What are some of the ways to prevent this disease?

Dr.CLL: Couples who carry the gene may have to decide not to have a child. If they are unable to make such a decision, they may opt for pre-natal diagnosis, which means that they test their pregnancy/foetus for thalassaemia major status.  If a thalassaemia major foetus is identified, the couple may need to terminate the pregnancy.  Of course, these are major decisions and religious, social and cultural practices need to be taken into account.


  1. UH: Are there different types/stages of thalassaemia?

Dr. CLL: The common types of thalassaemia in Malaysia are alpha and beta thalasaemia. Beta thalassaemia major is more common because the person is able to live with medical treatment.  Alpha thalassaemia major patients, on the other hand, do not live long as the child either dies in the womb or soon after delivery.

Thalassaemia is also subdivided into thalassaemia major, which requires monthly blood transfusion for life or thalassaemia intermedia, which requires less frequent blood transfusions although complications that are seen in thalassaemia major, habitually present themselves.  Many people afflicted with thalassaemia intermediate are diagnosed only later in life.


  1. UH: If a person has been diagnosed with thalassaemia but is planning to start a family, what is your advice for him or her?


Dr. CLL:  For a person who is diagnosed as a thalassaemia carrier and plans to have a child, then it is crucial to find out if the spouse also carries the thalassaemia gene.  The implications were explained earlier but that person should consult a haematologist or a geneticist to get further details and explanations on their risk of transmitting the thalassaemia gene.

As for the person who is diagnosed with thalassaemia major from infancy, the chances of conceiving a child are low and he or she usually needs a lot of medical attention and assistance in order to have a baby.


  1. 11.   UH: If I do not have any family history of thalassaemia, do I still have to go and check my status?

Dr. CLL:  Many young adults do not realise that they carry the thalassaemia gene until they give birth to an affected thalassaemia major baby.  So every individual, especially those who are planning to start a family, should get checked.  There is no age limit for the blood tests.  Anyone older than six months can be screened for thalassaemia.

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