Who should be screened for 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

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. [20]  Positive screening results should be confirmed by quantitative tests. The molecular analysis may be useful for population screening, family studies, females, and prenatal diagnosis. [10]  Diagnosis of G6PD may be difficult in females, who may be hemizygous or have skewed X chromosome inactivation or G6PD gene mosaicism. [20]


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