A 1-year-old child is diagnosed with severe microcytic/hypochromic anemia. His past medical history is insignificant. His family history is significant for an early death of his uncle from 'a blood disease'. Physical examination reveals hepatomegaly and splenomegaly. Subicteric discoloration of the sclerae is present. If this child survives several years after the diagnosis, severe organ damage due to iron overload is best explained by which of the following?

Question

A 1-year-old child is diagnosed with severe microcytic/hypochromic anemia.  His past medical history is insignificant.  His family history is significant for an early death of his uncle from 'a blood disease'.  Physical examination reveals hepatomegaly and splenomegaly.  Subicteric discoloration of the sclerae is present.  If this child survives several years after the diagnosis, severe organ damage due to iron overload is best explained by which of the following?

Quizplus · Accepted Answer

Explanation: Severe microcytic/hypochromic anemia in this patient is most likely explained by thalassemia major, a severe congenital hemolytic anemia. Patients with this disorder usually die early in life due to relentless anemia and catastrophic expansion of erythroid precursors. Hypertransfusion therapy has a great role in treated patients (i.e. the child may survive several years after the diagnosis). Hypertransfusion regimen can suppress the effects of chronic severe anemia and extramedullary hematopoiesis, but result in significant iron overload and resultant organ damage. (Choices A and E)Interestingly, iron metabolism is significantly affected even without transfusion therapy in these patients. Iron overload is caused by erythroid hyperplasia, red blood cell destruction, and ineffective hematopoiesis. (Choice D)The transferrin saturation level is high in these patients. (Choice B)Iron chelators, not supplements, are given in an attempt to decrease iron deposition in tissues. Educational Objective: Hypertransfusion regimen results in significant iron overload and resultant organ damage in patients with severe congenital anemias.

A 1-Year-Old Child Is Diagnosed with Severe Microcytic/hypochromic Anemia