thalassaemia

Thalassaemia is an inherited blood disorder characterized by abnormal formation of haemoglobin (the oxygen carrying molecule in red blood cells). There are several forms of thalassaemia manifesting in the blood not carrying oxygen efficiently.

Low haemoglobin is the cause of anaemia and subsequent fatigue.

Symptoms of Thalassaemia include:

  • Pale complexion
  • Jaundice of skin
  • Fatigue
  • Weakness
  • Facial bone deformities
  • Dark urine
  • Abdominal swelling
  • Slow growth

There are 2 types of thalassaemia, Alpha-Thalassaemia and Beta-Thalassaemia. The level of gene mutation will determine the severity of thalassaemia.

Alpha-Thalassaemia
With one mutated gene, no symptoms may occur although it will be passed on to children. Two mutated genes will be indicated by mild symptoms. Three mutated genes produce moderate to severe symptoms and four mutated genes, called α-thalassaemia major, usually causes a baby to die before or soon after birth.

Beta-Thalassaemia
This type is called minor thalassaemia if one gene is affected and major thalassaemia if two genes are affected. Major thalassaemia will severely shorten an affected persons’ lifespan.

Diagnosis
Thalassaemia is passed from parent/s to child and is seen more often in people of Greek, Italian, Asian, and African ancestry. Those suffering with Thalassaemia store too much iron in their bodies, either from the disease or due to frequent blood transfusions.

If you have a family history of thalassaemia, you should ideally see your obstetrician before pregnancy so that investigations are done on you and your partner. If pregnancy has already occurred, testing can still be done. If both you and your partner have a similar gene mutation, an amniocentesis or chorionic villous sampling can be done to diagnose the baby.

Treatment
A child born with thalassaemia can be treated with the occasional blood transfusion. However, moderate to severe thalassaemia may require frequent blood transfusions or, in the most severe cases, a bone marrow transplant.

Modern treatments have significantly extended the life expectancy of those born with thalassaemia.