Uncovering an undisclosed diagnosis: a glucose-6-phosphate dehydrogenase deficiency diagnosis in a critically ill adult.

Brittany M Kasturiarachi, David Robinson,Kristine Karkoska,Jahnavi Gollamudi

eJHaem(2024)

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摘要
Glucose-6-phosphate dehydrogenase (G6PD) deficiency affects over 400 million people worldwide. The most common variant of G6PD deficiency in the United States is the A-variant, which is present amongst African-Americans. Most people with this variant, however, do not experience severe hemolysis unless under extreme circumstances. Here, we present the case of a 44-year-old African-American male who under circumstances of multiple admissions for critical illness eventually presented with a masked diagnosis of G6PD deficiency.
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关键词
G6PD,hemoglobinopathies,hemolysis
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