Growth retardation, skeletal deformities and hemosiderosis are characteristic features of which of the following disorders?
β-thalassemia trait and α-thalassemia trait are typically asymptomatic.
The anatomic changes in β-thalassemia major are similar in kind to those seen in other hemolytic anemias but are profound in degree. Ineffective erythropoiesis and hemolysis result in a striking hyperplasia of erythroid progenitors, with a shift towards early forms. The expanded erythropoietic marrow may completely fill the intramedullary space of the skeleton, invade the bony cortex, impair bone growth, and produce skeletal deformities. Extramedullary hematopoiesis and hyperplasia of mononuclear phagocytes result in prominent splenomegaly, hepatomegaly, and lymphadenopathy. The ineffective erythropoietic precursors consume nutrients and produce growth retardation and a degree of cachexia reminiscent of that seen in cancer patients. Unless steps are taken to prevent iron overload, during the span of years, severe hemosiderosis develops.
Robin’s Textbook of pathology 10th ed Page 442
β-Thalassemia major
α-Thalassemia trait
β-Thalassemia minor
G6PD deficiency