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Iron deficiency anemia
0%
0/9
Autoimmune hemolytic anemia
22%
2/9
Sickle cell anemia
Thalassemia
G6PD deficiency
78%
7/9
Select Answer to see Preferred Response
A child presenting with acute symptoms of shortness of breath and jaundice in the setting of recent sulfonamide or nitrofurantoin use with a positive family history should raise concern for G6PD deficiency (glucose-6-phosphate dehydrogenase deficiency). G6PD deficiency is an x-linked recessive inherited disease found in up to 1/10 of African American males. G6PD catalyzes the reaction of NADP to NADPH via the glutathione system, protecting cells from oxidative stress. Because erythrocytes are deficient in other means for reduction of NADP, they are particularly susceptible to destruction from oxidative stress. Medications which can precipitate acute crisis in patients with G6PD deficiency include dapsone, sulfonamides, quinine, primaquine, and nitrofurantoin. Frank et al. discuss the causes and treatment of G6PD deficiency. They state that G6PD mutations are more common in African Americans and people of Mediterranean origin. Diagnosis of this disease is made by a quantitative spectrophotometric analysis or by a rapid fluorescent spot test detecting the generation of NADPH from NADP, but these assays may be falsely negative in acute crises. They also state that crises typically occur in states of acute stress (infection, trauma) or is caused by medications (see above). Bedejoko et al. present a retrospective cohort study comparing patients with and without G6PD deficiency with regards to hematocrit and bilirubin levels. They report that G6PD-deficient and G6PD-intermediate infants had higher mean total serum bilirubin than their G6PD-normal counterparts at birth and throughout the first week of life (P < .001). They also note that though mean hematocrits at birth were similar in the 3 G6PD groups, G6PD-deficient and intermediate infants had higher declines in hematocrit, bilirubin levels, and need for phototherapy compared to G6PD-normal infants (P < .001) Figure A shows bite cells and red blood cells with Heinz bodies, suggestive of G6PD deficiency. Incorrect Answers: Answer 1 and 4: This patient has a normal MCV. Iron deficiency anemia and thalassemia normally present with a microcytic anemia. Answer 2: Autoimmune hemolytic anemias typically present with positive Coombs tests. Answer 3: There are no sickle shaped cells on this patients peripheral smear, making sickle cell disease less likely.
4.5
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