A Japanese neonatal case of glucose-6-phosphate dehydrogenase deficiency presenting as severe jaundice and hemolytic anemia without apparent trigger

作者：Tsuzuki Shinya^*; Akahira Azuma Moe; Kaneshige Masao; Shoya Kazuhiro; Hosokawa Shinichi; Kanno Hitoshi; Matsushita Takeji

来源：SpringerPlus, 2013, 2: 434.

DOI：10.1186/2193-1801-2-434

• Glucose-6-phosphate dehydrogenase deficiency
• Neonate
• Jaundice
• Hemolytic anemia

Background: Glucose-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. %26lt;br%26gt;Findings: We 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. %26lt;br%26gt;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.

• 出版日期2013