Abstract
BackgroundGlucose-6-phosphate dehydrogenase (G6PD) deficiency is rare among Japanese ethnicity although it is known as one of the most common hereditary disorders of erythrocytes, causing intravascular hemolysis. It is well-known that G6PD deficiency may cause hemolysis even in the neonatal period. However, most cases are asymptomatic, and the frequency of severe anemia is low.FindingsWe describe a Japanese male neonatal case of G6PD deficiency presenting as severe, persistent indirect hyperbilirubinemia on day 2 and hemolytic anemia. He was born to non-consanguineous Japanese parents without any family history. We could not find any triggers that could have induced hemolysis during pregnancy.ConclusionsThis case encouraged us to investigate G6PD deficiency as a differential diagnosis of severe neonatal jaundice and hemolytic anemia despite the low prevalence in Japan.
Highlights
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is said to be a rare disorder in Japan (Nakashima et al 1977), even though it is one of the most common genetic enzymatic disorders in the world (Steiner & Gallagher 2007)
We describe a neonatal case of G6PD deficiency that developed severe jaundice and acute hemolytic anemia
The case presented as severe jaundice and hemolytic anemia, most cases are asymptomatic, in the neonatal period
Summary
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is said to be a rare disorder in Japan (Nakashima et al 1977), even though it is one of the most common genetic enzymatic disorders in the world (Steiner & Gallagher 2007). Conclusions: This case encouraged us to investigate G6PD deficiency as a differential diagnosis of severe neonatal jaundice and hemolytic anemia despite the low prevalence in Japan. We describe a neonatal case of G6PD deficiency that developed severe jaundice and acute hemolytic anemia
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