World Thalassaemia Day 2008: A million who have that gene

NST: KUALA LUMPUR: It is estimated that over one million Malaysians carry the gene that causes beta-thalassaemia, mostly in the Malay and Chinese communities.
Thalassaemia is a blood disorder passed from parent to child which affects the body's ability to produce normal red blood cells that carry oxygen in the body.
There are two types of thalassaemia - minor and major. Thalassaemia minor is not a problem. But if two people with thalassaemia minor have children together, there is a one in four chance their offspring will have thalassaemia major, which requires lifelong treatment and can be fatal.
It is for this reason the Thalassaemia Association of Malaysia advises people to go for blood screening for the disease.
Thalassaemia major patients need regular blood transfusions and drug therapy. The transfusions give the body a temporary supply of healthy red blood cells with normal haemoglobin that carries the oxygen around the body.
Association president Datuk Dr Zulkifli Ismail says the blood cell transfusions greatly improve the patients' quality of life and they can live longer.
But because there is no natural way for the body to eliminate iron, the iron in the transfused blood cells builds up in a condition known as "iron overload", and becomes toxic to tissues and organs particularly the liver and heart. Iron overload typically results in the patient's early death from organ failure.
To help remove excess iron, Dr Zulkifli said, patients undergo "iron chelation therapy", in which a drug that binds with the excess iron is infused into the blood and removes it through the urine or stool.
It is a painful and difficult process. A needle is attached to a small battery-operated infusion pump and worn under the skin of the stomach or legs. The drug Desferal is slowly released into the bloodstream five to seven times a week for up to 12 hours.
Dr Zulkifli says there are about 3,000 transfusion dependent thalassaemia major patients in the country.
Universiti Kebangsaan Malaysia medical faculty Department of Paediatrics senior medical consultant Prof Dr A. Rahman A. Jamal said every year between 120 and 240 new thalassaemia major cases are reported nationwide. But he believes this number could be higher as many seek treatment in private hospitals and abroad.
He said Cyprus and Greece have mandated premarital screening for thalassaemia, reducing the number of new patients by 90 percent. And prenatal testing can determine whether the foetus has thalassaemia major.
In Muslim countries like Saudi Arabia, Pakistan and Iran, aborting a foetus of less than 120 days is allowed, but not in Malaysia unless the pregnancy endangers the mother's life.
Dr Zulkifli said thalassaemia patients are often discriminated against because their appearance is different. Their height, skin colour and facial features are affected.
And he said employers are often reluctant to hire thalassaemia patients because they fear they would have to pay the medical bills. But two years ago, the government set aside RM49 million to treat them.
"Employers need not worry about their medical expenses as the government is paying for their treatment. All they need to do is allow them one day in a month to go for their blood transfusions.
"We want the private sector to accept them into the work force as this would help their self-esteem and independence," he said, adding that he knows of several thalassaemia patients who have carved out successful careers.