From the Guidelines
The answer is (b) hereditary spherocytosis, as it is a defect that responds to splenectomy by improving anemia and prolonging red cell survival. Hereditary spherocytosis is a genetic disorder characterized by defects in the red blood cell membrane proteins, which lead to abnormally shaped spherical red blood cells that are more rigid and less deformable than normal biconcave red cells. The spleen recognizes these spherocytes as defective and destroys them prematurely, leading to hemolytic anemia.
- Key characteristics of hereditary spherocytosis include:
- Defects in red blood cell membrane proteins, such as spectrin and ankyrin
- Abnormally shaped spherical red blood cells
- Premature destruction of red blood cells by the spleen
- Hemolytic anemia
- Unlike thalassemia, which involves defective hemoglobin synthesis, or glucose-6-phosphate dehydrogenase deficiency, an enzymatic defect, hereditary spherocytosis involves structural membrane abnormalities rather than direct hemoglobin chain defects.
- Idiopathic thrombocytopenic purpura affects platelets, not red blood cells or hemoglobin, and is not directly related to hemoglobin chain defects.
- The provided study 1 discusses pyruvate kinase deficiency, which is a different condition, but it highlights the importance of splenectomy in certain hemolytic anemias, such as hereditary spherocytosis, in improving anemia and reducing transfusion requirements.
- It is essential to note that splenectomy is not indicated in some other forms of chronic hemolytic anemia, and the diagnosis of the underlying condition should be established before splenectomy is performed, as mentioned in the study 1.
From the Research
Defect in the Hemoglobin Chain that Responds to Splenectomy
- The defect in the hemoglobin chain that responds to splenectomy is hereditary spherocytosis, a benign hematologic disease that requires surgical treatment when medical therapy fails 2, 3, 4, 5, 6.
Characteristics of Hereditary Spherocytosis
- Hereditary spherocytosis is a disease affecting the red blood cells membrane and belongs to the congenital hemolytic anemias 4.
- The clinical spectrum ranges from asymptomatic patients to severe forms requiring transfusions in early childhood 4.
Treatment of Hereditary Spherocytosis
- Splenectomy is considered the standard surgical treatment in moderate and severe forms of hereditary spherocytosis 2, 4.
- Total splenectomy exposes the patient to a life-long risk of potentially lethal infections, and thus, its usage was reconsidered 4.
- Partial or subtotal splenectomy is a feasible alternative that aims to retain splenic immunologic function while decreasing the rate of hemolysis 3, 4, 6.
Response to Splenectomy
- Splenectomy can lead to sustained and clinically significant improvement in hematologic profiles and clinical symptoms in most patients with hereditary spherocytosis 2, 3, 5.
- The long-term outcomes of patients with total or subtotal splenectomy for congenital hemolytic anemia remain unclear, but the majority of studies showed a qualitative resolution of anemia and reduction of transfusion rate 4.