Golf-ball inclusions on Brilliant Cresyl Blue smear with HbH on electrophoresis indicate which diagnosis?

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Multiple Choice

Golf-ball inclusions on Brilliant Cresyl Blue smear with HbH on electrophoresis indicate which diagnosis?

Golf-ball inclusions seen with Brilliant Cresyl Blue are HbH bodies, which are tetramers of beta chains that form when alpha-globin synthesis is severely reduced (usually three alpha-globin gene deletions). This finding points to Hemoglobin H disease, a form of alpha-thalassemia. The presence of HbH on electrophoresis further supports this diagnosis because HbH is a distinct abnormal hemoglobin that accumulates in HbH disease. In contrast, beta-thalassemia major typically shows little to no HbA and increased HbF and HbA2, not HbH bodies; alpha-thalassemia minor usually lacks HbH inclusions; sideroblastic anemia involves ring sideroblasts and iron-related marrow changes rather than HbH.

Golf-ball inclusions seen with Brilliant Cresyl Blue are HbH bodies, which are tetramers of beta chains that form when alpha-globin synthesis is severely reduced (usually three alpha-globin gene deletions). This finding points to Hemoglobin H disease, a form of alpha-thalassemia. The presence of HbH on electrophoresis further supports this diagnosis because HbH is a distinct abnormal hemoglobin that accumulates in HbH disease. In contrast, beta-thalassemia major typically shows little to no HbA and increased HbF and HbA2, not HbH bodies; alpha-thalassemia minor usually lacks HbH inclusions; sideroblastic anemia involves ring sideroblasts and iron-related marrow changes rather than HbH.

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