Molecular characterization of six unrelated Italian patients affected by pyrimidine 5′‐nucleotidase deficiency

• Published in: British journal of haematology Vol. 122; no. 5; pp. 847 - 851
• Main Authors: Bianchi, Paola, Fermo, Elisa, Alfinito, Fiorella, Vercellati, Cristina, Baserga, Mariangiola, Ferraro, Filomena, Guzzo, Immacolata, Rotoli, Bruno, Zanella, Alberto
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Science Ltd 01.09.2003; Blackwell; Blackwell Publishing Ltd
• Subjects: 5'-Nucleotidase - deficiency; 5'-Nucleotidase - genetics; Adult; Anemia, Hemolytic - genetics; Anemia, Hemolytic - metabolism; Anemia, Hemolytic - surgery; Anemias. Hemoglobinopathies; Biological and medical sciences; Child, Preschool; Chronic Disease; chronic haemolytic anaemia; Diseases of red blood cells; erythrocyte metabolism; Erythrocytes - metabolism; Female; Ferritins - blood; Frameshift Mutation; Hematologic and hematopoietic diseases; Hematology; Homozygote; Humans; Infant; Male; Medical sciences; Middle Aged; Mutation; Mutation, Missense; mutations; P5′N‐1 gene; pyrimidine 5′‐nucleotidase deficiency; Splenectomy; Human; Pyrimidine-5'-nucleotide nucleosidase; erythrocyte metabolism; Enzyme; Deficiency; Red blood cell; Clinical form; chronic haemolytic anaemia; Hemopathy; Metabolism; pyrimidine 5'-nucleotidase deficiency; Case study; Chronic; Hemolytic anemia; mutations; Gene; Etiology; Glycosidases; Genetics; Hydrolases; N-Glycosidases; Mutation; P5'N-1 gene; Pyrimidine nucleotide

Pyrimidine 5′‐nucleotidase deficiency is a rare autosomal recessive disorder characterized by haemolytic anaemia, marked basophilic stippling and accumulation of pyrimidine nucleotides within the erythrocytes. The gene encoding for this enzyme (P5′N‐1) has been cloned recently, and seven mutations h...