Pyruvate kinase deficient hemolytic anemia in the Northern Irish population

Blood Cells, Molecules, and Diseases

Volumn 39, Issue 2, 2007, Pages 189-194

  Percy, M J ^a   van Wijk, R ^b   Haggan, S ^c   Savage, G A ^b   Boyd, K ^d   Dempsey, S ^e   Hamilton, J ^f   Kettle, P ^a   Kyle, A ^g   Shepherd, C W ^d   van Solinge, W W ^b   Lappin, T R J ^h   McMullin, M F ^a  

^a BELFAST CITY HOSPITAL   (United Kingdom)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c ROYAL VICTORIA HOSPITAL   (United Kingdom)

^d CRAIGAVON AREA HOSPITAL   (United Kingdom)

^e ROYAL BELFAST HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^f ALTNAGELVIN HOSPITAL   (United Kingdom)

^g ANTRIM AREA HOSPITAL   (United Kingdom)

^h QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

Author keywords

Hemolytic anemia; Human PKLR gene mutations; Northern Ireland; Pyruvate kinase deficiency

Indexed keywords

PYRUVATE KINASE;

ADULT; ALLELE; ARTICLE; CASE REPORT; CAUCASIAN; ENZYME DEFICIENCY; FEMALE; FRAMESHIFT MUTATION; GENE; GENE MUTATION; HEMOLYTIC ANEMIA; HOMOZYGOSITY; HUMAN; MALE; NONSENSE MUTATION; PKLR GENE; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; SCHOOL CHILD; UNITED KINGDOM;

ANEMIA, HEMOLYTIC; EPIDEMIOLOGY, MOLECULAR; HUMANS; MUTATION; NORTHERN IRELAND; PEDIGREE; PREVALENCE; PYRUVATE KINASE;

EID: 34547394273     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2007.05.001     Document Type: Article

References (14)

1. Valentini G., Chiarelli L.R., Fortin R., et al. Structure and function of human erythrocyte pyruvate kinase. Molecular basis of nonspherocytic hemolytic anemia. J. Biol. Chem. 277 (2002) 23807-23814
2. Valentini G., Chiarelli L., Fortin R., et al. The allosteric regulation of pyruvate kinase. J. Biol. Chem. 275 (2000) 18145-18152
3. Zanella A., Fermo E., Bianchi P., and Valentini G. Red cell pyruvate kinase deficiency: molecular and clinical aspects. Br. J. Haematol. 130 (2005) 11-25
4. Beutler E., and Gelbart T. Estimating the prevalence of pyruvate kinase deficiency from the gene frequency in the general white population. Blood 95 (2000) 3585-3588
5. van Wijk R., and van Solinge W. Pyruvate kinase deficiency: genotype to phenotype. Eur. Hematol. Assoc. Educ. Progr. 2 (2006) 55-62
6. Baronciani L., Magalhaes I.Q., Mahoney D.H., et al. Study of the molecular defects in pyruvate kinase deficient patients affected by non-spherocytic anemia. Blood Cells Mol. Diseases 21 (1995) 49-55
7. Zanella A., Bianchi P., Baronciani L., et al. Molecular characterization of PK-LR gene in pyruvate kinase-deficient Italian patients. Blood 89 (1997) 3847-3852
8. Beutler E. Pyruvate kinase (PK). Red Cell Metabolism: A Manual of Biochemical Methods (1984), Grune & Stratton, Inc., Orlando, FL 62-65
9. Pissard S., Max-Audit I., Skopinski L., et al. Pyruvate kinase deficiency in France: 3-year study reveals 27 new mutations. Br. J. Haematol. 133 (2006) 683-689
10. Pastore L., Pastore L., Della Morte R., Frisso G., et al. Novel mutations and structural implications in R-type pyruvate kinase-deficient patients from Southern Italy. Human Mutat. 11 (1998) 127-134
11. Manco L., Ribeiro M.L., Almeida H., et al. PK-LR gene mutations in pyruvate kinase deficient Portuguese patients. Br. J. Haematol. 105 (1999) 591-595
12. Manco L., and Abade A. Pyruvate kinase deficiency: prevalence of the 1456C→T mutation in the Portuguese population. Clin. Genet. 60 (2001) 472-473
13. Valentini G., Chiarelli L.R., Fortin R., et al. Structure and function of human erythrocyte pyruvate kinase. Molecular basis of nonspherocytic hemolytic anemia. J. Biol. Chem. 277 (2002) 23807-23814
14. Fermo E., Bianchi P., Chiarelli L.R., et al. Red cell pyruvate kinase deficiency: 17 new mutations of the PK-LR gene. Br. J. Haematol. 129 (2005) 839-846