AN INSIGHT TO THALASSAEMIA

Thalassaemia is an inherited blood disorder that results in low hemoglobin content in red blood cells. People with thalassaemia are pale (anaemia) and require life-long blood transfusions every 2 to 4 weeks beginning from 6 to 12 months of age. Without blood transfusions, children with thalassaemia will not grow and will die before reaching 10 years old from heart failure due to severe anaemia. Thalassaemia can be cured only with a bone marrow transplant if there is a compatible sibling donor or a suitable cord blood with best outcomes when carried out early before 6 years old.

People with thalassaemia need frequent and regular check-ups with their doctors and nurses at the hospital. They need to come to clinic to get a blood sample taken a day or 2 earlier before any cross-matched compatible blood can be issued for transfusion. Blood transfusion is carried out in a daycare setting and is given through a puncture in the vein. One unit of packed red cell will take between 1½ to 2 hours to complete. An adult thalassaemia usually requires 2 units of packed red cells. In some hospitals where there are no daycare facilities, patients have to be admitted for at least 3 days for blood transfusion.

On average, a patient with thalassaemia will need to make a minimum of 2 visits to the hospital per month. Sometimes when there is a problem in cross-matching they need to come in to get another blood sample drawn. Blood may not always be available on the scheduled day for transfusion due either to shortage or unavailability of compatible units, so patients have to come back another day.

Hence, children with thalassaemia will sometimes have to miss school while adults have to take medical leave from work. This will affect their performance. Children will have to work harder to catch up on their studies and miss out on fun and games while adults will risk losing their jobs. Most of their time is spent at hospitals and they lead a very poor quality of life.

This is only the beginning of the many problems that a patient with thalassaemia will face. Blood transfusion has its complications. The most important is iron overload. One unit of packed red cell contains 200mg of iron. Our body has no mechanism to get rid of excess iron. So iron accumulates in the body of patients with thalassaemia. Iron is very toxic and will damage many organs such as the liver, pancreas, pituitary gland, thyroid gland, ovaries/testes and heart causing liver failure, diabetes mellitus, growth failure, hypothyroidism, hypogonadism, osteoporosis and heart failure.

To prevent complications of iron overload, patients will have to take medications that can get rid of iron called iron chelators. These medications come in 2 forms. One is through subcutaneous self-injections given daily over 10 to 12 hours via a pump and the other is taken orally everyday. These medications have many side effects and can cause painful skin reactions at injection sites, bone pains and deformities, reduced hearing, vomiting, rash, joint pains and increased risk of infections. Therefore patients need close monitoring and follow-up.

Thalassaemia is a major health problem in Malaysia. The life-time cost of treating one thalassaemia patient is estimated to be RM 1 million. Urgent measures have to be taken to prevent the births of newborns with thalassaemia, the result of both parents being carriers for thalassaemia. Having a child with thalassaemia will put a lot of strain not only to the parents but also to the other siblings and may disrupt the family unit.

One in 10 Malaysians are carriers for thalassaemia. Thalassaemia carriers are healthy with a normal hemoglobin level. The only way of detecting a thalassaemia carrier is through a blood test. All adolescents and young adults must undergo a screening test for thalassaemia which is available free of charge at most government clinics/hospitals and also at private laboratories for a small fee. If they are found to be a thalassaemia carrier, they must avoid marrying another carrier.

 By Dr Jameela Sathar, Hospital Ampang