Medicine · Anemia (Iron Deficiency, Hemolytic, Sickle Cell, Thalassemia)

A 22-year-old man of African descent presents with hemolytic anemia. Peripheral smear shows blister cells and bite cells. His mother's brother had similar episodes. He recalls his symptoms worsened after eating fava beans. Which is the most likely diagnosis?

  • A Hereditary spherocytosis
  • B Autoimmune hemolytic anemia
  • C Pyruvate kinase deficiency
  • D Glucose-6-phosphate dehydrogenase (G6PD) deficiency
Correct answer: D. Glucose-6-phosphate dehydrogenase (G6PD) deficiency

Explanation

Blister cells and bite cells (Heinz body-containing RBCs after splenic pitting) are characteristic of oxidative hemolysis in G6PD deficiency. X-linked inheritance, African descent, and fava bean trigger (favism) are classic. HS shows spherocytes, not bite cells. PK deficiency shows eccentrocytes. AIHA would have a positive direct Coombs test.

Reference: Harrison's Principles of Internal Medicine, 21st ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

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