Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency

Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency is a rare, hereditary, hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by mild to moderate hemolytic anemia associated with basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Patients present with variable features of jaundice, splenomegaly, hepatomegaly, gallstones, and sometimes require transfusions. Rare cases of mild development delay and learning difficulties are reported.

Also known as: P5N deficiency, UMPH1 deficiency, anemia, congenital, nonspherocytic hemolytic, 8, anemia, hemolytic, due to UMPH1 deficiency, hemolytic anemia due to P5N deficiency, hemolytic anemia due to UMPH1 deficiency, pyrimidine 5-prime nucleotidase deficiency, hemolytic anaemia due to, pyrimidine 5-prime nucleotidase deficiency, hemolytic anemia due to

20 clinical trials for this condition and its sub-types.