EC Clinical and Medical Case Reports

AGlucose-6-phosphate dehydrogenase (G6PD) deficiency, or Favism, is the most common erythrocyte enzymopathy in the world. It is a sex-linked genetic disorder, due to mutations in the G6PD gene (Xq28) and transmitted in an X-linked recessive manner. Hemizygous boys and homozygous girls fully express the deficiency, while in heterozygous girls, expression is variable, often absent or moderate. It can be responsible for severe neonatal jaundice and acute hemolytic crises when taking certain common drugs (some antimalarials, sulfonamides, analgesics), or during an infection.

Management aims to prevent hemolysis by informing patients about exogenous agents that can trigger crises. In this work we report two cases of female children of Moroccan nationality, with acute hemolytic anemia reported to be due to G6PD deficiency and followed at the Mohamed V military training hospital in Rabat.

This analysis helps to raise awareness among physicians of the need to consider G6PD deficiency in both boys and girls during a hemolytic crisis.

 Keywords: Hemolysis; Favism; G6PD; Girl

1. Renaulta A., et al. “G6PD deficiency in girls with neonatal revelation. Review of 4 clinical cases”. Archives of Pediatrics9 (2017): 865-871.
2. WHO Working Group. “Glucose-6-phosphate dehydrogenase deficiency”. Bulletin of the World Health Organization 6 (1989): 601-611.
3. Naylor CE., et al. “Glucose 6-phosphate dehydrogenase mutations causing enzyme deficiency in a model of the tertiary structure of the human enzyme”. Blood 7 (1996): 2974-2982.
4. Sara TO Saad and Fernando FC. “Mild hemolysis in a girl with G6PD Sumaré (class I variant) associated with G6PD A-”. Blood Cells, Molecules, and Diseases 3 (2003): 238-240.
5. Zangen S., et al. “Fatal kernicterus in a girl deficient in glucose-6-phosphate dehydrogenase: A paradigm of synergistic heterozygosity”. Journal of Pediatrics 4 (2009): 616-619.
6. Herschel M., et al. “Hemolysis and hyperbilirubinemia in an African American Neonate heterozygous for Glucose-6-phosphate dehydrogenase deficiency”. Journal of Perinatology 7 (2002): 577-579.
7. Watchko JF. “Hyperbilirubinemia in African American neonates: clinical issues and current challenges”. Seminars in Fetal and Neonatal Medicine 3 (2010): 176-182.
8. Kaplan M and Hammerman C. “Neonatal screening for Glucose-6-phosphate dehydrogenase deficiency: biochemical versus genetic technologies”. Seminars in Perinatology 3 (2011): 155-161.