Glucose 6-phosphate dehydrogenase deficiency red cell membrane defects: additive or synergistic interaction in producing chronic haemolytic anaemia (Articolo in rivista)

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Label
  • Glucose 6-phosphate dehydrogenase deficiency red cell membrane defects: additive or synergistic interaction in producing chronic haemolytic anaemia (Articolo in rivista) (literal)
Anno
  • 1994-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1111/j.1365-2141.1994.tb04885.x (literal)
Alternative label
  • ALFINITO F, CALABRO V, CAPPELLINI M.D, FIORELLI G, FILOSA S, IOLASCON A, MIRAGLIA DEL GIUDICE E, PERROTTA S, MIGLIORATI R, VALLONE D, ROTOLI B, LUZZATTO L (1994)
    Glucose 6-phosphate dehydrogenase deficiency red cell membrane defects: additive or synergistic interaction in producing chronic haemolytic anaemia
    in British journal of haematology (Print); Blackwell Publishing, Oxford (Regno Unito)
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • ALFINITO F, CALABRO V, CAPPELLINI M.D, FIORELLI G, FILOSA S, IOLASCON A, MIRAGLIA DEL GIUDICE E, PERROTTA S, MIGLIORATI R, VALLONE D, ROTOLI B, LUZZATTO L (literal)
Pagina inizio
  • 148 (literal)
Pagina fine
  • 152 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 87 (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo
  • 1 (literal)
Note
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • [ 1 ] HAMMERSMITH HOSP,ROYAL POSTGRAD MED SCH,DEPT HAEMATOL,LONDON W12 0NN,ENGLAND [ 2 ] UNIV NAPLES FEDERICO II,SCH MED,DEPT GENET GEN & MOLEC BIOL,DIV HAEMATOL,NAPLES,ITALY [ 3 ] UNIV NAPLES FEDERICO II,SCH MED,DEPT GENET GEN & MOLEC BIOL,DIV PEDIAT,NAPLES,ITALY [ 4 ] CNR,INT INST GENET & BIOPHYS,I-80125 NAPLES,ITALY [ 5 ] UNIV MILAN,INST INTERNAL MED,I-20122 MILAN,ITALY [ 6 ] UNIV NAPLES 2,PEDIAT CLIN 1,NAPLES,ITALY [ 7 ] ROYAL POSTGRAD MED SCH,DEPT HAEMATOL,LONDON W12 0HS,ENGLAND (literal)
Titolo
  • Glucose 6-phosphate dehydrogenase deficiency red cell membrane defects: additive or synergistic interaction in producing chronic haemolytic anaemia (literal)
Abstract
  • We have investigated two unrelated patients with congenital haemolytic anaemia in both of whom we found a combination of hereditary spherocytosis (HS) and glucose-6-phosphate dehydrogenase (G6PD) deficiency. Segregation of the two defects was documented in both families, who had different molecular abnormalities for both HS and G6PD deficiency. In one family the propositus had a reduced level of spectrin and G6PD Seattle (282Asp-->His). In the other family the propositus had a band 3 abnormality and was heterozygous for G6PD Mediterranean (188Ser-->Phe). From a comparison of clinical and haematological findings in family members with either or both abnormalities we conclude that in one case the two defects exhibited a synergistic effect, resulting in a severe chronic haemolytic anaemia; whereas in the other the association was simply additive. (literal)
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