What is the mortality and morbidity associated with glucose-6-phosphate dehydrogenase (G6PD) deficiency?

Updated: May 01, 2020
  • Author: Srikanth Nagalla, MBBS, MS, FACP; Chief Editor: Emmanuel C Besa, MD  more...
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Answer

Most persons with G6PD deficiency are asymptomatic. Symptomatic patients can present with neonatal jaundice and acute hemolytic anemia. [6, 7]

Kernicterus is a rare complication of neonatal jaundice, [11] but can occur in certain populations and can be fatal. Other mechanisms may contribute to hyperbilirubinemia in G6PD deficiency, such as an underlying defect in uridine diphosphoglucoronate-glucuronosyltransferase, the enzyme affected in Gilbert syndrome (see Unconjugated Hyperbilirubinemia).

Acute episodic hemolytic anemia can occur due to oxidant stress induced by exposure to certain drugs or chemicals (including some anesthetic agents [12] ), infections, ketoacidosis, or the ingestion of fava beans. [9, 13, 14, 15] Chronic hemolysis occurs in severe G6PD deficiency. Fatality rarely occurs.

G6PD deficiency appears to be a risk factor for the development of diabetes mellitus. A systematic review and meta-analysis by Lai and colleagues of publications involving involving 949,260 persons with G6PD deficiency found an odds ratio (OR) of 2.37 (95% confidence interval 1.50-3.73) for diabetes. The risk was higher in men than in women (OR 2.22 versus 1.87, respectively). [16] Certain G6PD gene variants in Africans and East Asians (G6PD-Asahi, G6PD-Canton, G6PD-Kaiping) have been shown to lower glycosylated hemoglobin (HbA1c) levels independent of glycemia, so patients who are carriers of those variants may be at risk for underdiagnosis of diabetes or pre-diabetes if screened by HbA1c without confirmation by direct glucose measurements. [17]

However, G6PD deficiency may have a protective effect on ischemic heart disease, cerebrovascular disease, and colorectal cancer. [18, 19]


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