ONE of the most common genetic diseases in Malaysia is thalassaemia, a genetically inherited disease of the blood. Parents who carry an abnormal globin gene will pass the gene to their offspring. Mutations in the globin genes reduce the production of haemoglobin, a type of protein in the red blood cells that carry oxygen to all parts of the body. Low oxygen level in the body will affect the functions of the organs.
Infants affected by thalassaemia major normally fail to thrive and gradually become pale. Most thalassaemia major patients require continuous blood transfusion on a monthly basis. If thalassaemia is not treated, children may develop skeletal alterations such as changes to the bones of the skull and face and deformities in the long bones of the legs; enlargement of the spleen and liver, causing swelling of the abdomen; and heart problems that may eventually lead to premature death.