G6PD Deficiency: The Daily PANCE Blueprint
G6PD is what type of genetic disorder?
A. X-linked recessive
B. X-linked dominant
C. Mitochondrial
D. Autosomal recessive
E. Autosomal dominant
Answer and topic summary
The answer is A. X-linked recessive
G6PD deficiency is an X-linked recessive disorder that results in episodes of hemolytic anemia. Without the enzyme G6PD (an enzyme that protects RBCs from oxidative injury), the hemoglobin molecule is denatured due to the intense oxidative stress. Often the patients have episodes that are triggered by certain things, such as fava beans, drugs (sulfa, dapsone, primaquine, etc), and infections (most commonly). During episodes, patients may have dark urine and jaundice. Labs will show anemia, high reticulocyte count, low haptoglobin, high indirect bilirubin, and high LDH. Blood smear should reveal Heinz bodies, which are essentially clumps of irreversibly denatured hemoglobin. Treatment is avoiding precipitants and transfusions as needed.
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Smarty PANCE Content Blueprint Review:
Covered under ⇒ PANCE Blueprint Hematology ⇒ ⇒ ⇒
Also covered as part of the Internal Medicine Rotation topic list
