Who should be screened for glucose-6-phosphate dehydrogenase (G6PD) deficiency?

Updated: Feb 19, 2019
  • Author: Srikanth Nagalla, MBBS, MS, FACP; Chief Editor: Emmanuel C Besa, MD  more...
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Screening for G6PD deficiency is indicated in patients with a suggestive family history or in geographical areas with a high prevalence of the disorder. Screening tests are described by Minucci et al. [21]  Positive screening results should be confirmed by quantitative tests. The molecular analysis may be useful for population screening, family studies, females, and prenatal diagnosis. [14] Diagnosis of G6PD may be difficult in females, who may be hemizygous or have skewed X chromosome inactivation or G6PD gene mosaicism. [21]

A number of rapid point-of-care diagnostic tests for determining G6PD deficiency status have been developed. [24, 25]  These have a potential role in malaria-endemic areas for permitting safe use of primaquine, which can provoke hemolysis in persons with G6PD deficiency. [27, 28]

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