Spherocytes trapped in the spleen resulting in splenomegaly are characteristic of which disorder?

Spherocytes trapped in the spleen resulting in splenomegaly are characteristic of which disorder?

• A. G6PD deficiency
• B. Hereditary spherocytosis
• C. Pyruvate kinase deficiency
• D. Sickle cell disease

Answer: (B)

Rigid, sphere-shaped red blood cells due to defects in the red cell membrane skeleton become less deformable. In the spleen, these spherocytes cannot pass easily through the splenic cords and are preferentially sequestered and destroyed by splenic macrophages, causing extravascular hemolysis and splenomegaly. This combination of spherocytes with an enlarged spleen is characteristic of hereditary spherocytosis. Other conditions cause different red cell shapes or mechanisms of hemolysis (for example, G6PD deficiency shows oxidative Heinz bodies and bite cells, pyruvate kinase deficiency can cause hemolysis without the classic spherocytes and splenomegaly pattern, and sickle cell disease shows sickled cells), so they don’t fit this presentation as well.

Rigid, sphere-shaped red blood cells due to defects in the red cell membrane skeleton become less deformable. In the spleen, these spherocytes cannot pass easily through the splenic cords and are preferentially sequestered and destroyed by splenic macrophages, causing extravascular hemolysis and splenomegaly. This combination of spherocytes with an enlarged spleen is characteristic of hereditary spherocytosis. Other conditions cause different red cell shapes or mechanisms of hemolysis (for example, G6PD deficiency shows oxidative Heinz bodies and bite cells, pyruvate kinase deficiency can cause hemolysis without the classic spherocytes and splenomegaly pattern, and sickle cell disease shows sickled cells), so they don’t fit this presentation as well.