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Retired NBME 25 Answers

nbme25/Block 2/Question#37 (reveal difficulty score)
A 5-month-old boy is brought to the physician ...
Mutation of the beta-globin gene inherited from each parent ๐Ÿ” / ๐Ÿ“บ / ๐ŸŒณ / ๐Ÿ“–
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submitted by โˆ—shak360(19)
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Target cells have 4 possible associated pathologies HALT:

  • HbC disease,
  • Asplenia
  • Liver disease
  • Thalassemia

"HALT," the hunter said to his target.

Thalassemias can also present with basophilic stippling, where an erythrocyte is just muddled with darkly staining granules (that do NOT contain iron). This is also seen in sideroblastic anemia. Note that in sideroblastic anemia you would see Pappenheimer bodies (iron-containing basophilic granules).

Thalassemias are diseases of defective globin chains, either in the alpha or beta globin chain. The moment you see HbA2 mentioned, you should be thinking of beta-thalassemias. To differentiate between major and minor beta-thalassemias, you need to look at the amount of HbA2 and HbF replacing HbA.

beta-thalassemia minor is primarily an asymptomatic disease with mild microcytic anemia. Hb electrophoresis shows a small amount of HbA2 and HbF and near normal (90%) concentrations of HbA.

This person has NO HbA (an absence of HbA) and increased concentrations of HbA2 and HbF so it must be major beta thalassemia.

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