Open-access Anemia Hemolítica no esferocítica (AHCNE) por deficiencia de piruvato quinasa: informe del segundo caso en Costa Rica

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.


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Editorial Nacional de Salud y Seguridad Social Apdo. 75-10100, San José, Costa Rica, San José, San José, CR, 10105-1000, (506) 22216193 - E-mail: cendeisss@info.ccss.sa.cr
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