Sunday November 25, 2007
All in the family
By Dr ZULKIFLI ISMAIL
There are between 600,000 and a million Malaysians with the thalassaemia trait. Exactly what is thalassaemia and how can you prevent it?
THALASSAEMIA is an inherited blood disorder that partly or completely suppresses the production of haemoglobin in the body.
Depending on the haemoglobin chain affected, it can be alpha-, beta- or Hbe-beta. Beta thalassemia can be a minor (carrier), intermedia or severe disease (major).
Thalassaemia minor is not life-threatening, and in some cases, is never even detected. Carriers can pass down the thalassemia trait to subsequent generations.
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Thalassaemia patients need to undergo blood transfusions every three to four weeks for the rest of their life. |
These symptoms begin to manifest when the baby is between three and six months of age.
Eventually, they end up with stunted growth, frequent infections and complications involving the heart, skin, pancreas and pituitary gland in the brain.
Without proper treatment, thalassaemic children will experience complications and usually die at an early age.
Can thalassaemia be prevented?
The best way to prevent thalassaemia is by lowering the risk of passing it to the next generation. You can do this by taking a blood test to see if you’re a carrier. In fact, this test is highly recommended for couples before they decide to get married and have any children.
If both parents are found with thalassaemia minor, they may want to consult a genetic counselor, paediatrician or physician on the risks of passing this disease on to their children.
In this case, adoption may be an option due to the high risks involved in bearing a child with thalassaemia major.
I have thalassaemia but still want to have a baby!
If a blood test reveals that you’re a thalassaemia carrier, or that both you and your spouse are, you’ll naturally be distressed.
Doctors will advise thalassaemic couples to consider their options carefully before conceiving. If only one of you has thalassaemia minor, your child will have a 50% chance of not being a carrier at all.
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If you do decide to go ahead and conceive, you can go for antenatal blood tests that can determine whether your baby will have thalassaemia before he’s born. Knowing your baby’s condition beforehand gives you time to make preparations for his medical care and get your finances in order.
If you decide that the risks are just too great and you won’t have a baby, there’s always the option of adopting.
Can thalassaemia be cured?
The answer is no. Thalassaemia patients need to undergo blood transfusions every three to four weeks for the rest of their life. Transfusions keep their haemoglobin count at normal levels and therefore prevent complications from arising.
The downside of such frequent blood transfusions is that they cause an excessive build-up of iron in the body, which can eventually lead to pigmentation of the skin, poor growth, heart complications, diabetes and liver damage.
To counter this effect, you need to take an iron chelating agent – expensive, inconvenient but absolutely necessary. These are either given by injection or taken by mouth.
There may be extreme cases where the spleen (whose normal job includes destroying old red blood cells) begins to destroy new cells produced by the bone marrow instead.
Eventually, it also begins to destroy white blood cells and platelets. The only way to stop this is to surgically remove the spleen via a procedure called splenectomy.
An alternative to blood transfusion is a bone marrow transplant (BMT), a procedure that’s possible only if there’s a donor who’s an exact genetic match.
The challenge is, only 20 to 30% of children have family members who can be suitable donors. There’s also a certain level of risk with bone marrow transplants, which can result in rejection of the donor marrow. BMT, if successful, results in a cure.
Get tested today
Go for a blood test to determine if you’re a thalassaemia carrier. If you’re single and a carrier, avoid marrying someone who’s also a carrier.
If you’re not, never be prejudiced against a carrier or a thalassemia major patient. With adequate treatment for the latter, they are useful members of the community.
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