Approximately one per cent of the Thai population is affected by thalassaemia, and more than 30 per cent are carriers of the abnormal genes. Thalassaemia carriers are generally healthy but can pass the abnormal genes to their children, which is why it is important that any woman wanting to become pregnant undergoes screening. If you become pregnant and find out from a blood test that you have thalassaemia genes, you should seek medical advice.

Symptoms of thalassaemia include:

• Pale appearance
• Fatigue
• Abdominal swelling
• Enlarged spleen (marked splenomegaly)
• Yellow discoloration of skin (jaundice)
• Bone deformities in the face
• Slow growth

The signs and symptoms the patient experience may differ depending on the type and severity of thalassaemia they have. Some show signs and symptoms of thalassaemia at birth, while others may develop signs or symptoms during the first two years of life. People with only one affected haemoglobin gene don’t experience any thalassaemia symptoms.

Thalassaemia is diagnosed through a genetic blood test and haemoglobin test. Although thalassaemia treatment is difficult and time consuming, it can be cured with a bone marrow transplant by using stem cells from the donor that match both the DNA and Human Leukocyte Antigens (HLA) of the affected individual. The most preferable donor is the patent’s sibling who has HLA matched. If there is no HLA matched sibling available, a matching unrelated donor is a viable alternative.

Without a bone marrow transplant, a child born with severe thalassaemia will face a lifetime of monthly blood transfusions. This is not without its risks, as the patient could well receive extra iron from the transfusions, which can lead to iron deposits in the liver, heart and pancreas.

The bone marrow is a blood-like tissue inside the bones. It produces new blood cells. These include red blood cells, which carry oxygen to the organs in the body; white blood cells, which help defend the body against infectious disease as part of the immune system; and platelets, which help the blood to clot. A bone marrow transplant, – today more commonly called a stem cell transplant – is a standard procedure used to treat a variety of both genetic and non-genetic blood diseases. This treatment has been used in Thailand for more than 20 years and the outcome is every bit as effective as similar treatments in Europe and America.

Advice for patients with thalassaemia:

l Eat a balanced and healthy diet with food from all five food groups

l Have a regular dental check-up every 6 months

l Avoid working too hard and playing too rough

l Do not take vitamins without medical advice

l Stay in areas that are well-ventilated so as to avoid infections

l See a doctor for treatment if you have a severe pain in your upper right abdomen, fever or jaundice

In order to avoid thalassaemia, it is important for you and your partner to have a blood test for this serious disorder. People who are carriers of a thalassaemia gene usually show no thalassaemia symptoms and we cannot know if they are carriers without a blood test. So do take time to have a screening test before having a child to avoid passing the thalassaemic gene to your offspring.

With the progress in advanced medical technology, diagnosis, effective treatment and prevention, patients can be cared for from infancy through childhood to adulthood. This progress will help thalassaemic patients to enjoy a better quality of life.

PROFESSOR EMERITUS THIP SRIPHAISAL is a Paediatric Haematologist and Oncologist at Samitivej International Children’s Hospital, |Sukhumvit Campus. Call (02) 711 8236-7.