/hemolytic anemia due to pyrimidine 5' nucleotidase deficiency

hemolytic anemia due to pyrimidine 5' nucleotidase deficiency

Rare Disease

MONDO:0009946

Also Known As

P5N deficiencyUMPH1 deficiencyanemia, congenital, nonspherocytic hemolytic, 8anemia, hemolytic, due to UMPH1 deficiencyhemolytic anemia due to P5N deficiencyhemolytic anemia due to UMPH1 deficiencypyrimidine 5-prime nucleotidase deficiency, hemolytic anaemia due topyrimidine 5-prime nucleotidase deficiency, hemolytic anemia due touridine 5'-monophosphate hydrolase deficiencyuridine 5-prime monophosphate hydrolase deficiency, hemolytic anaemia due touridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due tohemolytic anaemia due to P5N deficiencyhemolytic anaemia due to UMPH1 deficiency

Definition

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.