Which defect in the hemoglobin chain responds to splenectomy: idiopathic thrombocytopenic purpura (ITP), hereditary spherocytosis, thalassemia, or glucose-6-phosphate dehydrogenase (G6PD) deficiency?

From the Guidelines

The answer is (b) hereditary spherocytosis, as it is a condition characterized by a defect in the red blood cell membrane proteins, which can lead to abnormally shaped red blood cells that are more fragile and prone to premature destruction in the spleen. Splenectomy is an effective treatment for hereditary spherocytosis because it removes the primary site of red cell destruction, significantly improving the lifespan of affected red blood cells and reducing hemolysis 1.

Key Points

• Hereditary spherocytosis is a condition that affects the red blood cell membrane, not the hemoglobin chain itself.
• Splenectomy is a effective treatment for hereditary spherocytosis, as it removes the primary site of red cell destruction.
• The other options, such as idiopathic thrombocytopenic purpura, thalassemia, and glucose-6-phosphate dehydrogenase deficiency, do not involve defects in the hemoglobin chain itself and are not directly related to the question.
• While splenectomy may be used in some cases of ITP, as discussed in 1 and 1, it is not related to hemoglobin chain defects as specified in the question.

Clinical Considerations

• Hereditary spherocytosis is a genetic disorder that can be diagnosed through a combination of clinical evaluation, laboratory tests, and genetic analysis.
• Splenectomy is typically considered for patients with hereditary spherocytosis who have significant hemolysis, anemia, or other complications related to the condition.
• The decision to perform splenectomy should be made on a case-by-case basis, taking into account the individual patient's condition, medical history, and potential risks and benefits of the procedure.

From the Research

Defect in the Hemoglobin Chain that Responds to Splenectomy

• The correct answer is (b) hereditary spherocytosis, as it is a defect in the red blood cell membrane that responds to splenectomy 2, 3, 4, 5, 6.
• Hereditary spherocytosis is a hematologic disorder characterized by hemolytic anemia and splenomegaly, and splenectomy is an effective therapeutic option for this condition 2, 3, 4, 5, 6.
• Splenectomy removes the primary site of red blood cell destruction, eliminating anemia and hyperbilirubinemia, and lowering the high reticulocyte number to nearly normal levels 2, 3, 4, 5, 6.
• The other options, (a) idiopathic thrombocytopenic purpura, (c) thalassemia, and (d) glucose-6-phosphate deficiency, are not directly related to hereditary spherocytosis or do not respond to splenectomy in the same way 2, 3, 4, 5, 6.

Hereditary Spherocytosis and Splenectomy

• Hereditary spherocytosis is a disease affecting the red blood cells membrane, and splenectomy is considered the standard surgical treatment in moderate and severe forms of the disease 4.
• Total splenectomy exposes the patient to a life-long risk of potentially lethal infections, and partial splenectomy is a feasible alternative that aims to retain splenic immunologic function while decreasing the rate of hemolysis 4, 6.
• The long-term outcomes of patients with total or subtotal splenectomy for congenital hemolytic anemia are still unclear, but the majority of studies show a qualitative resolution of anemia and reduction of transfusion rate 4.