title: Red cell pyruvate kinase deficiency in Spain: A study of 15 cases.
abstract: OBJECTIVE
  Pyruvate kinase deficiency (PKD) is a rare, inherited disease causing chronic hemolysis and anemia of varying intensity. The genetic heterogeneity of PKD is high and, to this day, over 240 different mutations have been identified.
  
  
  METHODS
  15 unrelated patients affected by PKD have been studied. PKLR gene sequencing was performed by SANGER, including the determination of promoter regions, exonic, intronic flanking and 3'UTR.
  
  
  RESULTS
  Patients were classified into 3 groups based on the intensity of their clinical symptoms: I) severe and very severe (8 patients); II) moderate (2 patients), and III) mild (5 patients). Six out of the 18 alleles found were new mutations which had not been described previously, with the PKLR c.721G>T mutation being the most prevalent (26.67%), followed by the PKLR c.1456C>T mutation (13.33%).
  
  
  CONCLUSIONS
  In Spain, the genetic heterogeneity of PKLR is still high but differs from that observed in the previous study carried out in 1998. Total PKLR gene sequencing is necessary for the characterization of all patients with PKD and for genetic counseling.
authors.affiliation: Unidad de Eritropatología, Hospital Clínic de Barcelona, Institut D'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, España.
authors.forename: Laura
authors.initials: L
authors.lastname: Montllor
authors.affiliation: Unidad de Eritropatología, Hospital Clínic de Barcelona, Institut D'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, España. Electronic address: mdmanu@clinic.cat.
authors.forename: María Del Mar
authors.initials: MD
authors.lastname: Mañú-Pereira
authors.affiliation: Unidad de Eritropatología, Hospital Clínic de Barcelona, Institut D'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, España.
authors.forename: Esther
authors.initials: E
authors.lastname: Llaudet-Planas
authors.affiliation: Unidad de Eritropatología, Hospital Clínic de Barcelona, Institut D'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, España.
authors.forename: Pilar
authors.initials: P
authors.lastname: Gómez Ramírez
authors.affiliation: Servicio de Hematología y Hemoterapia, Hospital Infantil Universitario Niño Jesús, Madrid, España.
authors.forename: Julián
authors.initials: J
authors.lastname: Sevilla Navarro
authors.affiliation: Unidad de Eritropatología, Hospital Clínic de Barcelona, Institut D'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, España.
authors.forename: Joan Lluís
authors.initials: JL
authors.lastname: Vives-Corrons
mesh_terms: D000293:Adolescent; D000328:Adult; D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D005819:Genetic Markers; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011770:Pyruvate Kinase / Q000172:deficiency* / Q000235:genetics*; D015323:Pyruvate Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics*; D012720:Severity of Illness Index; D013030:Spain; D055815:Young Adult
chemical_list: D005819:Genetic Markers; D011770:Pyruvate Kinase
keywords: Anemia hemolítica crónica; Chronic hemolytic anemia; Déficit de piruvato cinasa; Genetic sequencing; Molecular variants; Pyruvate kinase deficiency; Secuenciación genética; Variantes moleculares