RESUMEN

We identified the pyruvate kinase liver/red cell enzyme gene mutation of 8 children previously diagnosed with pyruvate kinase deficiency who were living in a remote town in the western United States. Six were found to be homozygous for the mutation 1529G-A (510 Arg-Gln). Two previously thought to have pyruvate kinase deficiency did not, because they were heterozygous.

Asunto(s)

Mutación , Piruvato Quinasa/deficiencia , Piruvato Quinasa/genética , Anemia Hemolítica Congénita/etiología , Colelitiasis/etiología , Tamización de Portadores Genéticos , Pérdida Auditiva/etiología , Homocigoto , Humanos , Hiperbilirrubinemia/etiología , Ictericia/etiología , Población Rural , Estados Unidos