Glucose-6-phosphate dehydrogenase deficiency (G6PD) is the most common red blood cells enzymopathy that affects 400 million people worldwide and is especially prevalent in areas of high malaria infection. G6PD deficiency has an X-linked recessive mode of inheritance and most known mutations in the G6PD gene decrease the enzyme stability. Oxidative stress, e.g. ingestion of fava beans, can induce acute haemolytic anaemia in affected individuals. The paper describes the case of two 6-month and 5-year-old male children with an acute haemolytic crisis due to the ingestion of fava beans. Due to increased immigration, the condition is expected to occur more often in Italian healthcare centres.
Guiducci C., Fumarola A., Pusceddu S., Radice C., Marchetti F. (2018). Two cases of favism: From diagnosis to management. MEDICO E BAMBINO, 37(6), 379-383.
Two cases of favism: From diagnosis to management
Marchetti F.Ultimo
Writing – Review & Editing
2018
Abstract
Glucose-6-phosphate dehydrogenase deficiency (G6PD) is the most common red blood cells enzymopathy that affects 400 million people worldwide and is especially prevalent in areas of high malaria infection. G6PD deficiency has an X-linked recessive mode of inheritance and most known mutations in the G6PD gene decrease the enzyme stability. Oxidative stress, e.g. ingestion of fava beans, can induce acute haemolytic anaemia in affected individuals. The paper describes the case of two 6-month and 5-year-old male children with an acute haemolytic crisis due to the ingestion of fava beans. Due to increased immigration, the condition is expected to occur more often in Italian healthcare centres.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
