Which clinical history findings are characteristic of glucose-6-phosphate dehydrogenase (G6PD) deficiency?

Updated: Jun 25, 2020
  • Author: Lawrence C Wolfe, MD; Chief Editor: George T Griffing, MD  more...
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Answer

The majority of people with glucose-6-phosphatase dehydrogenase (G6PD) deficiency may remain clinically asymptomatic. However, neonates can present with exacerbated neonatal jaundice. Episodes of acute hemolytic anemia following exposure to an oxidative agent or with chronic nonspherocytic hemolytic anemia can occur. [4, 16, 28, 29, 30, 26, 31]

Patients may experience episodes of intravascular hemolysis and consequent anemia, triggered by infections, medicines that induce oxidative stresses, fava beans, and ketoacidosis. Hemolysis begins 24-72 hours after exposure to oxidative stress. Patients with severe hemolysis present with weakness, tachycardia, jaundice, and hematuria.

The clinical presentation of G6PD deficiency includes a spectrum of hemolytic anemia ranging from mild to severe hemolysis in response to oxidative stress. The likelihood of developing hemolysis and its severity depend on the level of the enzyme deficiency, which in turn depends on the G6PD variant. [4, 5]


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