Monday, October 09, 2006
Last Saturday, I went to collect my blood test results (finally, after 2 months!!) & it's confirmed that I'm a carrier of thalassaemia. Uh oh. Luckily it's minor, not major. So I'm alpha-thalassamic, meaning my haemoglobin molecules have an inability to manufacture enough alpha chains. Quite cheem rite?
I guess alot of people dunno what is thalassaemia, cos' I didn't know too till I had the body check-up. It never harms to know more, and all I hope for now is that my children will not be affected. So junwei, you better not have thalassaemia too k? Hee. *prays hard* Doc says as long as you're not, our children will be fine. I dun wanna make my kids suffer by going through blood transfusion every month.
What Is Thalassaemia?
Thalassaemia is an inherited blood disorder which is caused by an abnormal gene. A person with thalassaemia is unable to produce normal, functioning haemoglobin in the blood.
Haemoglobin carries oxygen from the lungs to all parts of the body. When the body is not able to produce normal, functioning haemoglobin, the affected person suffers from anaemia.
Thalassaemia is passed on from parent to child and can affect both males and females. In Singapore, about 3% of the population are carriers of the thalassaemia gene.
What Are The Types Of Thalassaemia?
There are two types of thalassaemia:
(1) Thalassaemia minor (thalassaemia trait)
A person who has inherited one thalassaemia gene is said to have thalassaemia minor (thalassaemia trait).He or she is healthy and leads a normal life. Most people with thalassaemia minor do not know that they have it. However, the affected persons can pass on the abnormal gene to their children.
Thalassaemia major is a severe form of anaemia. The affected person has inherited two thalassaemia genes, one from each parent. He or she may look normal at birth but within 1 - 2 years of life, will suffer from severe anaemia, which leads to poor growth and development as well as a shorter lifespan.
The affected person will need blood transfusion every month to sustain life. At present, a bone marrow transplant is the only hope of possible cure for thalassaemia major.
How Is Thalassaemia Inherited?
If only one parent has thalassaemia minor, the following can occur:
- 50% chance of having a child with thalassaemia minor
- 50% chance of having a normal child
- None of the couple's children will get thalassaemia major.
If both parents have thalassaemia minor, the following can occur:
- 25% chance of having a child with thalassaemia major
- 50% chance of having a child with thalassaemia minor
- 25% chance of having a normal child
The chances are the same with each pregnancy, no matter how many children the couple may have.
Who Should Go For Thalassaemia Screening?
Since thalassaemia can be passed on from one generation to another, you and your partner should go for a thalassaemia screening if you are:
- Planning to get married
- Starting a family.
Thalassaemia screening involves a simple blood test and is available at all polyclinics.
Symptoms & dangers
The symptoms of Thalassaemia major may include: paleness, jaundice, or yellow coloured skin, failure to thrive, if young, enlarged spleen and liver and bony abnormalities, especially of the facial bones.
Children with Thalassaemia major are normal at birth but become anaemic between the ages of three months and eighteen months. They become pale; unable to eat and sleep well, and may vomit their feeds. If not treated, they usually die between one and eight years old.
The only treatment for Thalassaemia major is regular blood transfusions, usually every three or four weeks. Most children, if given such transfusions, grow normally and live normally into their 20s. After each blood transfusion, the red cells in the new blood are broken down slowly over the next four months.
But the iron from the red blood cells stays in the body. An individual who has frequent red blood cell transfusions can develop iron overload. And herein lies the danger - if this iron is not removed, it builds up and can damage the liver, the heart and other parts of the body. If this damage is not prevented, most people with Thalassaemia major die before they are twenty years old.
So, other treatment must come into play. Now the only way to remove the extra iron from the body is to give injections of a drug called Desferrioxamine (Desferal). This medication starts usually between the ages of 4 to 8 years old. The injections are given using a portable battery-operated pump. This slowly empties a syringe over 6-7 hours. The pump is used 5-7 nights of every week, therefore treatment takes place in the home.
There are risks with any blood transfusion. These include an allergic reaction, infection, and sometimes hepatitis or HIV, the virus that causes AIDS. At present, the only permanent cure for Thalassemia major is a Bone Marrow Transplant (BMT). BMT however, does not guarantee a cure. In some centres, 85% survived but were not cured, 8 % reverted to normal and were cured and 7% rejected the graft and died as a result of complications. Bone marrow present in the cavities of bone is the site for formation of blood cells that are released into the circulation.
Bone marrow is obtained from a healthy and matching donor usually a sibling brother or sister, a parent or other close relative whose tissue will match that of a patient. Bone marrow obtained from donors is given to the patients just like ordinary blood transfusion. In 2 to 3 weeks' times the "mother cells" from donor bone marrow start producing normal haemoglobin forming cells. This will then render the patient transfusion free if the transplant is successful. The high risk involved is possible death over failure.
What Should I Do If I Have Thalassaemia Minor?
If you or your partner has thalassaemia minor, both of you should see a doctor for genetic counselling before you plan to get married or have a child. The doctor will explain the risks and discuss the choices you have. He may refer you to the National Thalassaemia Registry for further counselling.
The National Thalassaemia Registry provides genetic counselling for people with thalassaemia and screening for their families. The staff at the Registry will be able to answer your questions about this blood disorder.
NATIONAL THALASSAEMIA REGISTRY
Level 7 Children's TowerKK Women's & Children's Hospital
100 Bukit Timah RoadSingapore 229899
Tel: 6394 1863-66 or Fax: 6394 1867
Email: Nat.Thal.Reg@kkh.com.sg
Well, now the registry has my name in their record liaoz. I hope kor kor doesn't have thalassaemia, and that I was the only child who inherited it from our parents. So that he & Mabel can give birth to healthy and happy kids next time.
Life is so unpredictable sometimes, but to all my friends out there, please take good care of yourselves and don't take good health for granted k?
~Summer~ 10:29 AM