Conditions / Genetic

congenital nonspherocytic hemolytic anemia 9

info ยท Genetic

A congenital nonspherocytic hemolytic anemia that has_material_basis_in hemizygous or heterozygous mutation in the GATA1 gene on chromosome Xp11.

Signs and symptoms

  • Erythroid hyperplasia
  • Stomatocytosis
  • Hyperbilirubinemia
  • Hemolytic anemia
  • Reduced erythrocyte adenosine triphosphate concentration
  • Reticulocytosis