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Tuesday, 17 April 2018 | MYT 12:00 AM

Screen to control blood diseases

ONE of the most common genetic diseases in Malaysia is thalassaemia, a genetically inherited disease of the blood. Parents who carry an abnormal globin gene will pass the gene to their offspring. Mutations in the globin genes reduce the production of haemoglobin, a type of protein in the red blood cells that carry oxygen to all parts of the body. Low oxygen level in the body will affect the functions of the organs.

Infants affected by thalassaemia major normally fail to thrive and gradually become pale. Most thalassaemia major patients require continuous blood transfusion on a monthly basis. If thalassaemia is not treated, children may develop skeletal alterations such as changes to the bones of the skull and face and deformities in the long bones of the legs; enlargement of the spleen and liver, causing swelling of the abdomen; and heart problems that may eventually lead to premature death.

In Malaysia, between 3% and 5% of the population are thalassaemia carriers. As of 2014, the Malaysian Thalassaemia Registry has recorded more than 6,000 patients, of which more than 3,000 are transfusion-dependent.

With improvements in disease and clinical management of thalassaemia patients in Malaysia, the rate of morbidity and mortality related to this genetic disease is expected to be reduced significantly.

Apart from successful disease management, prevention can have a much bigger impact on reducing the burden of thalassaemia in this country since it is preventable at community level. Awareness and prevention campaigns must be carried out consistently to educate Malaysians on the impact of thalassaemia and the importance of screening as a preventive step.

Premarital screening for young adults would help to reduce the incidence of this inherited disease as it allows couples in committed relationships to be informed of their carrier/non-carrier status. Improved prevention programmes will reduce the rate of affected births in this country, hence lowering the cost of medical care and relieving the strained healthcare system.

It is time for genetic diseases such as thalassaemia to take centre stage. Once an inherited genetic disease is diagnosed, only symptomatic treatment is provided because it is not curable through conventional medical care. The only way to reduce the incidence of thalassaemia in the population is prevention through education which can be done by health workers and the community.


Malaysian Node of the Human Variome Project (MyHVP)

Kubang Kerian