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Inicio Medicina Clínica (English Edition) Red cell pyruvate kinase deficiency in Spain: A study of 15 cases
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Vol. 148. Issue 1.
Pages 23-27 (January 2017)
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Vol. 148. Issue 1.
Pages 23-27 (January 2017)
Clinical report
DOI: 10.1016/j.medcle.2016.10.037
Red cell pyruvate kinase deficiency in Spain: A study of 15 cases
Déficit de piruvato cinasa eritrocitaria en España: estudio de 15 casos
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Laura Montllora, María del Mar Mañú-Pereiraa,
Corresponding author
mdmanu@clinic.cat

Corresponding author.
, Esther Llaudet-Planasa, Pilar Gómez Ramíreza, Julián Sevilla Navarrob, Joan Lluís Vives-Corronsa
a Unidad de Eritropatología, Hospital Clínic de Barcelona, Institut D’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain
b Servicio de Hematología y Hemoterapia, Hospital Infantil Universitario Niño Jesús, Madrid, Spain
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Tables (3)
Table 1. Patients with pyruvate kinase deficiency included. Clinical manifestations, haematological data, enzyme activities and genotype.
Table 2. Family studies; hematologic data, enzyme activities and genotype.
Table 3. Allelic frequencies of pyruvate kinase deficiency mutations; current Zarza 1999 study comparative.
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Abstract
Background and objective

Pyruvate kinase deficiency (PKD) is a rare, inherited disease causing chronic hemolysis and anaemia of varying intensity. The genetic heterogeneity of PKD is high and, to this day, over 240 different mutations have been identified.

Patients and 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 characterisation of all patients with PKD and for genetic counselling.

Keywords:
Chronic hemolytic anaemia
Pyruvate kinase deficiency
Genetic sequencing
Molecular variants
Resumen
Antecedentes y objetivo

El déficit de piruvato cinasa (DPK) es una enfermedad hereditaria rara, que cursa con hemólisis crónica y anemia de intensidad variable. Su heterogeneidad genética es elevada, habiéndose descrito unas 240 mutaciones diferentes.

Pacientes y metodología

Se han estudiado 15 pacientes con DPK en los que se ha secuenciado la totalidad del gen PKLR, incluyendo las regiones promotora, exónicas, intrónicas flanqueantes y 3′UTR.

Resultados

Según la intensidad del cuadro clínico, los pacientes se han clasificado en 3 grandes grupos: I) grave y muy grave (8 pacientes); II) moderado (2 pacientes), y III) leve (5 pacientes). Se han identificado 18 alelos diferentes, de los que 6 son mutaciones nuevas, no descritas con anterioridad, siendo la mutación PKLRc.721G>T la más prevalente (26,67%), seguida de la mutación PKLR c.1456C>T (13,33%). Trece de los 15 pacientes mostraron un genotipo doble heterocigoto y 2 homocigoto.

Conclusiones

En España, la heterogeneidad del patrón genético de la PKLR continúa siendo elevada, aunque algo diferente a la observada en un estudio anterior (1998). Se concluye que la secuenciación total del gen PKLR es imprescindible tanto para la caracterización de los pacientes como para la realización del consejo genético.

Palabras clave:
Anemia hemolítica crónica
Déficit de piruvato cinasa
Secuenciación genética
Variantes moleculares

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