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Revista Costarricense de Ciencias Médicas
Print version ISSN 0253-2948
Abstract
CHAVES-VILLALOBOS, Mario; RODRIGUEZ-ROMERO, Wálter E.; CARRILLO-HENCHOZ, Juan M. and SAENZ-RENAULD, German F.. Anemia Hemolítica no esferocítica (AHCNE) por deficiencia de piruvato quinasa: informe del segundo caso en Costa Rica. Rev. costarric. cienc. méd [online]. 1998, vol.19, n.1-2, pp.97-103. ISSN 0253-2948.
We describe the second case in Costa Rica of a chronic hemolytic anemia due to pyruvate kinase deficiency in a 12 year old female. The family study indicates a double heterocygotic pattern of the deficiency, caused by two enzyme variants with negative cooperation. We want to strees the importance of the positive ascorbate-cyanide screening test as a first indication for the final diagnosis.