Utilize este identificador para referenciar este registo: http://hdl.handle.net/10198/508
Título: Coexistence of congenital red cell pyruvate kinase and band 3 deficiency
Autor: Branca, Rosa
Costa, Elísio
Rocha, Susana
Coelho, Henrique
Quintanilha, Alexandre
Cabeda, José
Santos-Silva, Alice
Barbot, José
Palavras-chave: Chronic nonspherocytic haemolytic anaemia,
Pyruvate kinase
Data: 2004
Editora: Blackwell
Citação: Branca, Rosa; Costa, Elísio; Rocha, Susana; Coelho, Henrique; Quintanilha, Alexandre; Cabeda, José; Santos-Silva, Alice; Barbot, José (2004) Coexistence of congenital red cell pyruvate kinase and band 3 deficiency Clinical and Laboratory Haematology. ISSN 1365-2257. 26:4, p. 297–300
Resumo: The authors report the case of a 9-year-old Caucasian girl, born in northern Portugal, with chronic nonspherocytic haemolytic anaemia and without family history of anaemia. The aethiological study of this anaemia revealed pyruvate kinase deficiency (PKD), because of two previously described mutations (426Arg fi Trp and 510Arg fi Gln). Since the blood smear revealed features not fully compatible with PKD diagnosis, additional tests were performed for the propositus and her parents, namely red blood cell membrane protein analysis. A decrease in proteins band 3 (15%) and 4.2 (18%) was found in the propositus. Her father presented only a decrease in band 3 (11%). Coexistence of PKD and erythrocyte membrane proteins deficiency in the same patient is very uncommon. Our findings suggest that a careful blood smear observation may lead to the identification of a combined deficiency in erythrocyte membrane proteins and enzymopathies.
URI: http://hdl.handle.net/10198/508
ISSN: 1365-2257
Aparece nas colecções:ESSa - Artigos em Revistas Indexados à WoS/Scopus

Ficheiros deste registo:
Ficheiro Descrição TamanhoFormato 
Clin lab hematol 2.pdf120,31 kBAdobe PDFVer/Abrir

FacebookTwitterDeliciousLinkedInDiggGoogle BookmarksMySpace
Formato BibTex MendeleyEndnote Degois 

Todos os registos no repositório estão protegidos por leis de copyright, com todos os direitos reservados.