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Title: Coexistence of congenital red cell pyruvate kinase and band 3 deficiency
Author: Branca, Rosa
Costa, Elísio
Rocha, Susana
Coelho, Henrique
Quintanilha, Alexandre
Cabeda, José
Santos-Silva, Alice
Barbot, José
Keywords: Chronic nonspherocytic haemolytic anaemia,
Pyruvate kinase
Issue Date: 2004
Publisher: Blackwell
Citation: 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
Abstract: 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

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