Clinical aspects of transfusional iron overload

Abstract

Most of our knowledge of transfusional iron overload has been obtained from patients with β-thalassemia major (TM). Iron overload causes multiple endocrinopathies presenting in the first decade of life with growth disturbance, followed by thyroid dysfunction. By the second decade of life, carbohydrate metabolism is disturbed in up to 25% of patients and failure of sexual development, even in well-chelated patients, appears as the commonest endocrine complication. In the third and fourth decades of life, osteopenia and osteoporosis are the causes of morbidity in over 50% of well-chelated and transfused TM patients. Cardiac disease, secondary to iron damage, causes death in developed countries as a result of noncompliance to desferrioxamine mesylate (DFX) from the third decade of life. In underdeveloped countries, cardiac death starts from 12 years of age, due to the nonavailability of the iron chelating agent DFX. With the emergence of the advanced cardiac magnetic resonance imaging technique, early diagnosis of heart iron will allow the use of parenteral and oral chelators in an innovative way to improve survival and the quality of life for TM patients.