When is screening for glucose-6-phosphate dehydrogenase (G6PD) deficiency indicated?

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

A semi-quantitative test is usually indicated in patients with a suggestive family history or in geographic areas with a high prevalence of the disorder. Positive screening results should be confirmed by quantitative tests. Diagnosis of G6PD may be difficult in females, who may be hemizygous or have skewed X-chromosome inactivation or G6PD gene mosaicism.

G6PD activity is higher in premature infants than in term infants. This should be considered when testing for G6PD deficiency in infants.

The British Society for Haematology guidelines on the laboratory diagnosis of G6PD deficiency note that screening tests should not be relied on for the diagnosis of female patients, stating that instead, G6PD activity should be measured directly by quantitative spectrophotometric assay. They also specify that in patients in general, an abnormal or borderline screening test necessitates the performance of a quantitative assay.


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