Biblioteca Digital do Instituto Politécnico de Bragança   Instituto Politécnico de Bragança

Biblioteca Digital do IPB >
Escola Superior de Saúde >
Departamento de Tecnologias de Diagnóstico Terapêutica >
DTDT - Artigos em Revistas Indexados ao ISI/Scopus >

Please use this identifier to cite or link to this item:

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
Issue Date: 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.
ISSN: 1365-2257
Appears in Collections:DTDT - Artigos em Revistas Indexados ao ISI/Scopus

Files in This Item:

File Description SizeFormat
Clin lab hematol 2.pdf120,31 kBAdobe PDFView/Open

Please give feedback about this item
FacebookTwitterDeliciousLinkedInDiggGoogle BookmarksMySpace
Formato BibTex MendeleyEndnote Logotipo do DeGóis 

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.


© Instituto Politécnico de Bragança - Biblioteca Digital - Feedback - Statistics
Promotores do RCAAP   Financiadores do RCAAP

Fundação para a Ciência e a Tecnologia Universidade do Minho   Governo Português Ministério da Educação e Ciência PO Sociedade do Conhecimento (POSC) Portal oficial da União Europeia