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    BioPatel is offline Member
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    glucose-6-phosphate dehydrogenase deficiency

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    A physician from the United States decides to take a sabbatical from his responsibilities at a teaching hospital to work in a clinic in a remote part of Africa. During his first week at the clinic, he is told that he will be seeing a patient with glucose-6-phosphate dehydrogenase deficiency. Which of the following will be the most likely clinical presentation of this patient?

    A. A child with short stature, radial abnormalities, absent thumbs, and café-au-lait spots develops severe anemia
    B. A child who develops myoglobinuria following vigorous exercise
    C. A neonate with an enlarged spleen and severe anemia
    D. An adult who develops anemia following use of antimalarial drugs
    E. An adult who develops severe shortness of breath during an airplane ride

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    Asclepius1 is offline Ultimate Member 537 points
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    D.

  3. #3
    BioPatel is offline Member
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    The correct answer is D. There are several variants of G-6-PD in Africa. The most common clinically significant variant is the so-called A- type, which is due to two different nucleotide substitutions, and is unstable. This variant is also found in up to 11% of African-American males. The A- variant renders the individual's red cells susceptible to oxidative stresses, such as those that occur with administration of antimalarial drugs such as primaquine. Nitrofurantoin and sulfonamides are other agents that can trigger hemolytic episodes. Infection (bacterial or viral) are another important trigger for hemolysis in these individuals. Rarely, glucose-6-phosphate dehydrogenase deficiency presents as neonatal jaundice or with chronic hemolysis. In Mediterranean populations, glucose-6-phosphate dehydrogenase deficiency-associated hemolysis may occur in children who eat a meal of beans (Vicia fava) and several hours later develops hemoglobinuria and peripheral vascular collapse secondary to intravascular hemolysis as a result of the oxidant injury initiated by the fava beans.

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