Thalassemia is an inherited disease of the red blood cells. In thalassemia, the genetic defect results in reduced rate of synthesis of normal globin chains(c.f. hemoglobinopathy which is a structural change in a globin chain leading to instability or abnormal oxygen transport). The blood cells are vulnerable to mechanical injury and die easily. To survive, many people with thalassemia need blood transfusions at regular intervals.
- In more severe types of thalassaemia, such as Cooley’s anaemia, signs of the severe anaemia are seen in early childhood and may include:
- Fatigue (feeling tired) and weakness
- Pale skin or jaundice (yellowing of the skin)
- Protruding abdomen, with enlarged spleen and liver
- Dark urine
- Abnormal facial bones and poor growth