congenital nonspherocytic hemolytic anemia 10

A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the GSR gene on chromosome 8p21.

Signs and symptoms

• Cataract
• Reduced erythrocyte glutathione reductase activity
• Hyperbilirubinemia
• Fava bean-induced hemolytic anemia