title: The genetic basis of the interaction between pyrimidine 5' nucleotidase I deficiency and hemoglobin E.
abstract: We have previously described a family in which the interaction between pyrimidine 5' nucleotidase I (P5N-I) deficiency and hemoglobin E resulted in severe haemolytic anaemia. In this study we explored the genetic basis of the severe clinical phenotype and look for evidence of the interaction between these conditions. A P5N-I gene mutation (IVS8 + 1-2delGT) was found in the family, confirming that the severe phenotype results from the interaction between two genetic diseases.
authors.affiliation: Purine Research Unit, Department of Chemical Pathology, Guy's and St. Thomas Hospitals, London, UK.
authors.forename: E
authors.initials: E
authors.lastname: Escuredo
authors.forename: A M
authors.initials: AM
authors.lastname: Marinaki
authors.forename: J A
authors.initials: JA
authors.lastname: Duley
authors.forename: S L
authors.initials: SL
authors.lastname: Thein
authors.forename: D C
authors.initials: DC
authors.lastname: Rees
mesh_terms: D015720:5'-Nucleotidase / Q000172:deficiency* / Q000235:genetics*; D000743:Anemia, Hemolytic / Q000235:genetics; D005091:Exons; D005192:Family Health; D017353:Gene Deletion; D005838:Genotype; D006446:Hemoglobin E / Q000235:genetics* / Q000378:metabolism*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D009154:Mutation; D010641:Phenotype; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics; D017086:beta-Thalassemia / Q000235:genetics
chemical_list: D006446:Hemoglobin E; C023275:uridine monophosphatase; D010744:Phosphoric Monoester Hydrolases; D015720:5'-Nucleotidase