Glucose-6-phosphate dehydrogenase (G6PD) is an enzyme included in the pentose phosphate pathway with a cellular protective effect against oxidative stress.The most frequent clinical manifestations of G6PD deficiency are neonatal jaundice and acute hemolytic anemia, which is usually triggered by an exogenous agent such as drugs, infections and certain nutrients. Some G6PD variants cause chronic hemolysis, leading to congenital non-spherocytic hemolytic anemia. The disorder is inherited by X-linked transmission. Homozygote females and males are the cases at risk for G6PD deficiency.A 26-month-old girl presented with hemolytic anemia after eating broad beans. She was diagnosed with G6PD deficiency and interestingly the G6DP level was also decreased in her father. There was no history of hemolytic anemia in the father despite multiple exposure to broad beans. We aimed to underline the different types of clinical expressions of G6PD deficiency in different genders by presenting this case report
Glucose-6-phosphate dehydrogenase (G6PD) is an enzyme included in the pentose phosphate pathway with a cellular protective effect against oxidative stress.The most frequent clinical manifestations of G6PD deficiency are neonatal yellow and acute hemolytic anemia, which is usually triggered by an exogenous agent such as drugs, infections and certain nutrients. Some G6PD variants cause chronic hemolysis, leading to congenital non-spherocytic hemolytic anemia. The disorder is inherited by X-linked transmission. Homozygote females and males are the cases at risk for G6PD deficiency.A 26-month-old girl presented with hemolytic anemia after eating broad beans. She was diagnosed with G6PD deficiency and interestingly the G6DP level was also decreased in each father. There was no history of hemolytic anemia in the father despite multiple exposure to broad beans. We aimed to underline the different types of clinical expressions of G6PD deficiency in different genders by presenting this case report
Alan : Sağlık Bilimleri
Dergi Türü : Uluslararası
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