Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency Clinical Presentation

Updated: Apr 07, 2016
  • Author: Paul Schick, MD; Chief Editor: Emmanuel C Besa, MD  more...
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Presentation

History

Most patients with glucose-6-phosphate dehydrogenase (G6PD) deficiency are asymptomatic. Neonatal jaundice may occur. Jaundice usually appears within 24 hours after birth, at the same time as or slightly earlier than physiologic jaundice but later than in blood group alloimmunization. [1, 20] Exchange transfusions are often required.

Most patients are usually not anemic, but episodes of intravascular hemolysis and consequent anemia can be triggered by infections, medicines that induce oxidative stresses, fava beans, and ketoacidosis. [21] Hemolysis begins 24 to 72 hours after exposure to oxidant stress. When hemolysis is severe, patients present with weakness, tachycardia, jaundice, and hematuria. Some patients have a history of chronic hemolytic anemia.

Acute hemolysis is self-limiting, resolving after 8 to 14 days. Hemolytic episodes destroy aging red blood cells (RBCs) that have the lowest levels of G6PD, New RBCs produced to compensate for anemia contain high levels of G6PD. Young RBCs are not vulnerable to oxidative damage and hence limit the duration of hemolysis.

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Physical Examination

Physical examination findings may be normal in patients with G6PD deficiency. Jaundice and splenomegaly may be present in patients with severe hemolysis. [8] . Patients may have right upper quadrant tenderness due to hyperbilirubinemia and cholelithiasis. Skin ulcers are an infrequent complication that may occur in patients with severe G6PD deficiency.

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