Clinical Presentation - Transfusional Iron Overload

If untreated, sequelae include:

• congestive cardiomyopathy and/or cardiac arrhythmias
• liver damage eventually resulting in cirrhosis
• endocrine dysfunction affecting:
  - the pancreas (leading to diabetes mellitus)
  - the pituitary gland (causing short stature and hypogonadism)
  - the parathyroid (causing hypocalcemia)

Mechanism

With repeated transfusions iron accumulates, reflecting the retention of the heme iron from the transfused red cells after they become senescent and are destroyed by cells of the monocyte-macrophage system.

Iron toxicity is believed to be due to free radical damage to tissues induced by iron that is circulating unbound to plasma proteins such as transferrin.