Management of Thalassaemia

Aims of management:
-Suppress ineffective erythropoiesis.
-Prevent bony deformities.
-Allow normal activity and development.

Treatment:
-Long term folic acid supplements.
-Regular blood transfusions every 4-6 weeks to keep Hb above 10 g/dL.
-Bone marrow transplant. (but high mortality for patients in poor condition, with iron overload or liver dysfunction.)

Complications of treatment:
-Iron overload due to repeated transfusions (transfusion haemosiderosis) which may damage endocrine glands, liver, pancreas and myocardium. Assessed via measuring the serum ferritin and hepatic iron stores.
To overcome this problem, treatment with iron chelating agents. The agent of choice reamins desferrioxaminegiven as overnight subcutaneous injection 5-7 nights a week. Ascorbic acid 200 mg is also given to increase urinary excretion of iron in response to desferrioxamine.
An alternative agent is ICL670 administered orally, but long term studiesare still awaited. However, treatment with iron chelating agents are not without complications as excessive doses of desferrioxamine may cause cataracts, retinal nerve damage, deafness and infection with Yersinia enterocolitica. Compliance could be another problem.
-Requirement of increased blood transfusions may make a splenectomy recommended. And prophylaxis against infection is required for patients undergoing one.

Source: Clinical Medicine, 6th edition, Kumar and Clark.