FREQUENTLY ASKED QUESTIONS ON THALASSAEMIA
What is thalassaemia?
Thalassaemia is an inherited blood disease which is transmitted by a gene. It reduces the amount of haemoglobin your body can make, thus causing anaemia.
What is anaemia?
If you have too few red blood cells, or there is too little haemoglobin in them, you have anaemia. The most is iron defficiency anaemia. This can happett if you don't have enough iron in your diet. It can be cured by taldng iron medicine. Thalassaemia is an inherited anaemia. It CANNOT be cured by taking any medicine.
How is thalassaemia inherited?
The thalassaemia gene is passed on from parent to child.
What is thalassaemia tiait?
A person who has one thalassaemia gene is said to have the thalassaemia trait. He or she remains healthy but can pass on the gene to his or her children. There are about I million people with thalassaemia trait in Malaysia. They are sometimes called "carriers of thalassaemia" or "thalassaemia minor".
Is there a test for thalassaemia?
Yes, a simple blood test, using Mood taken from your vein, can determine whether you have the thalassaemia trait.
Where can I go for the thalassaemia blood test?
You can ask your family doctor for advice or go to any goverment polyclinics.
What is thalassaemia major?
A person who has two thalassaemia genes, one from each parent, has thalassaemia major. He or she has severe anaemia and needs regular blood transfusions and medical treatment in order to live!
What are the other names for thalassaemia major?
Other names are Cooley's anemia,beta -thalassaemia major,homozygous beta-thalassaemia,homozygous thalassaemia and mediterranean anaemia.
How do we treat thalassaemia major?
Two treatments are now possible:
1. Traditional treatment which consist of blood transfusion, splenectomy (removing the spleen) and desferal treatment (iron chelation).
2. Bone marrow transplantation.
How does blood tranfasion help?
Blood transfusion corrects anaemia,it makes sure tissues get normal amount of oxygen. This allow thalassaemic to live and grow normally. It also allows patient's bone inarrow to rest, so that bone can develop normally and strong, and the patient's face looks normal. It will slow down, or prevent any increase in the size of the spleen or hypersplenism.
When is splenectomy required?
Splenectomy is recommended when the spleen becomes too active and starts to destroy red blood cells.
Can taking out spleen ever cure thalassaemia?
Why do we sometimes hear of people being 'cured' after splenectomy?
Some people with thalassaemia are born with a milder form called thalassaemia intermedia. These people can manage without blood transfusion. However they can also get big spleen. This can make their thalassaemia worse that they need to start on regular transfusion. When the spleen is taken out, they don't need transfusion. It is as if they have been cured. But their fundamental form of thalassaemia has not been changed.
Does it cause any problem if you don't have a spleen?
Spleen is important to help defend your body against bacteria infection. Therefore the risk of infection will increase following splenectomy.
How does desferal treatment help?
Desferal treatment is to keep the amount of iron in the body at a safe level. Regular transfusions accumulate iron in the body. Too much iron can damage organs especially liver, heart and the endocrine glands. Desferal picks up excess iron and carry it out of the body in urine and faeces.
How can transplanting bone marrow helps?
A thalassaemic's bone marrow is not able to make a normal amount of red blood cells. If the malfunctioned bone marrow can be replaced with normal bone marrow, the problem is solved. However bone marrow transplantation is a serious procedure. Parents and patients are advised to discussed with the transplant specialist before making up their minds.
Why high transfusion is better than low transfusion?
With high transfusion, your bones are strong and your face looks normal. You grow normally, your heart is strong and your circulation is normal. When you are given blood, your haemoglobin rises as expexted. You do not absorb too much iron from your food. The spleen usually stay small and do no harm. Generally you are as healthy as other people. However you will have iron overload from the blood that you received. Therefore high transfusion is only recommended for patients with desferal treatment.
Is something wrong if the interval between transfusions get shorter and shorter?
Yes, check with your doctor for an explanation.
What complication can be caused by blood transfusion?
The commonest problem arise from sensitization (allergy) to white blood cells or plasma from the donor, and from infection. Sensitization to white blood cells causes fever during transfusion. Whereas sensitization to a component of plasma causes itch, blotchy skin rash either during or after the transfusion. It may also cause ( very rarely) difficulty in breathing. All complications arising from sensitization can be prevented.
What infections can be passed on in transfusion?
Hepatitis is the commonest infection caused by transfusion. All thalassaemia patients should be immunized against hepatitis B, Though there is no vaccine against hepatitis C virus, donors are tested for hepatitis C virus so the risk of infection is very low. Other infective agent that can be transmitted by blood are cytomegalovirus, malaria,syphilis and HIV. However tranmission of these diseases is very rare because all donors blood are tested.
When to start desferal treatment ?
The best guide to iron overload and the need to desferal is serrum ferritin level. Ferritin is the substance tha holds iron in liver and other tissues. A samll amount of iron gets into your blood and the amount of iron in the blood reflects the amount of your iron stores.
What does your serum ferritin level mean?
What amount of desferal is needed?
The requirement differs according to the availability ofdesferal. For the best result consult your doctor.
How to make desferal more effective?
Take vitamin C on the days you get desferal. Vitamin C increases the amount of iron that a given amount of desferal can take out in some patients. It should be taken one month after receiving desferal treatment However vitamin C cannot remove iron on its own. So do not take extra vitamin C without taking desferal at the same time.
Is there anything else to reduce iron overload?
Drinking tea with meals can reduce the amount of iron you absord from your food. Also to avoid foods that are rich in iron such as liver, spleen, prunes, raisin and spinach.
Should desferal be taken when the patient is having an infection?
It is better to stop until you know the cause of infection. This is because there is a family of germs called yersinia that can use desferal to grow on. These germs can cause intestinal infection. If the infection is caused by yersinia, desferal will make the infection worst.
Can desferal cause bad reaction?
Injecting desferal may cause some general reactions eg feeling generally unwell, redness and swelling at the site of injection, tingling, dizziness difficult in breathing etc. If any of these happen, stop injection immediately and consult your doctor.
Why are psychological and emotional support important in the treatment ofthalassaemia?
Thalassaemia is a life long disease and its treatment punishing. The possibility of physical deformity and other complictions associated with the disease can have serious implication in the patients' psychosocial development. Therefore psychosocial support should remain an intergeral part of the total management of thalassaemia patients. Join an association or a support group. Seek help and helping others with similar problem may help you to cope better with the disease.
What does the future holds for thalassaemics?
For patients who have access to safe blood transfusions and iron chelation, both the quality of life and life expectancy will continue to improve. With the advancement in science and medicine, a complete cure of the disease could be a reality in the near future. "WE SHOULD ALWAYS PRESUME THE DISEASE TO BE CURABLE, UNTIL IT'S OWN NATURE PROVE IT OTHERWISE" -Peter Mere Latham
Professor Elizabeth George, Beta-Thalassaemia In Malaysia.
Dr.John B.Porter, Current Strategies and Perspective In Thalassaemia Treatment. Ciba-Geigy Limited, Basel, Switzerland, 1996.
Dr.Rino Villo, Dr.Bemadette Modell andDr.Bygenia Georganda, What Is Thalassaemia (2nd edition). The Thalassaemia International Federation, 1995.
Booklet on All You Need To Know About Being A Carrier Of Thalassaemia, Pertubuhan Thalassaemia Perak, 1996.
Pamplet on Thalassaemia Major: An Inherited Blood Disease, Training and Health Education, Ministry of Health, Singapore.
The management of thalassaemia in Malaysia has improvediremendously in the last five years. However there has been no attempt to control the number of patients born with thalassaemia major. As the cost of management eacalated, a screening and preveation programme is timely in order to avoid the draining of health care resources.
For those interested in serious reading on thalassaemia, the following is an article on beta-thalassaemia in Malaysia by Professor Elizabeth George, Consultant Haemotologist Universiti Kebangsaan Malaysia, Kuala Lumpur. Queries on this article can be directed to her at firstname.lastname@example.org .