Two new mutations of the P5′N-1 gene found in Italian patients with hereditary hemolytic anemia: The molecular basis of the red cell enzyme disorder

Laurent R. Chiarelli, Elisa Fermo, Patrizia Abrusci, Paola Bianchi, Chiara M. Dellacasa, Alessandro Galizzi, Alberto Zanella, Giovanna Valentini

Research output: Contribution to journalArticlepeer-review

Abstract

Inherited pyrimidine 5′-nucleotidase type-1 (P5′N-1) deficiency is the most frequent abnormality of red cell nucleotide metabolism causing non-spherocytic hemolytic anemia. We describe two novel mutations in two Italian patients affected by P5′N-1 deficiency. One mutation is a two base deletion that occurs at the splice site junction between intron 7 and exon 8 (c.396-397del AG); the second is an in-frame deletion of three adjacent bases (c.427-429del CAA), leading to deletion of glutamine 143. The kinetic properties of Q143del variant were not grossly altered, but the variant was very heat unstable even at physiological temperatures.

Original languageEnglish
Pages (from-to)1244-1247
Number of pages4
JournalHaematologica
Volume91
Issue number9
Publication statusPublished - Sep 2006

Keywords

  • Hemolytic anemia
  • Mutations
  • P5′N-1 deficiency
  • Recombinant mutant

ASJC Scopus subject areas

  • Hematology

Fingerprint Dive into the research topics of 'Two new mutations of the P5′N-1 gene found in Italian patients with hereditary hemolytic anemia: The molecular basis of the red cell enzyme disorder'. Together they form a unique fingerprint.

Cite this