Question 149
While on a 4th year elective rotation in Africa, a medical student sees a 1-year-old black female who was brought to the clinic by her parents. Physical examination reveals prominence of the malar eminences of the cranium, yellow-tinged conjunctivae, ulcers of the skin of the legs, an incorrectly healed fracture of the left leg, and massive splenomegaly. A peripheral smear reveals marked variation in the size and shape of the red blood cells, and nucleated red blood cells are present. Of the following, what is the most likely diagnosis?
A. Sickle cell anemia
B. β-thalassemia
C. Child abuse
D. Severe chronic malaria
E. Acute lymphoblastic leukemia
F. Acute and chronic cholecystitis
Answer for Question 149
Answer: B (β-thalassemia)
Explanation: In β-thalassemia major, the ineffective erythropoeisis leads to expansion of the marrow cavity, and hence the prominence of the malar eminences. Involvement of the long bones can predispose to fractures. The hemolysis associated with the ineffective erythropoeisis leads to an elevated concentrated of unconjugated bilirubin and can manifest as jaundice. And, while the unconjugated bilirubin can predispose to cholelithiasis, acute and chronic cholecystitis is not the sole cause of this child’s condition. On blood smear, β-thalassemia major has poikilocytosis (variation in cell shape) and anisocytosis (variation in cell size).