congenital nonspherocytic hemolytic anemia 8

info · Genetic

A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the UMPH1 gene (NT5C3A) on chromosome 7p14.

Signs and symptoms

Reduced circulating pyrimidine 5-prime-nucleotidase activity
Hyperbilirubinemia
Hemolytic anemia
Reticulocytosis
Hemoglobinuria