RESUMEN

Among the causes of life-long cyanosis are congenital methemoglobinemia due to M hemoglobins, congenital methemoglobinemia due to methemoglobin reductase deficiency, a small number of low oxygen affinity hemoglobins, and a small number of unstable hemoglobins that spontaneously form methemoglobin in vivo at an accelerated rate. We report an unstable hemoglobin with these characteristics that was observed in a family of indigenous (native American) origin living near Santiago, Chile. This variant has the substitution beta28(B10)Leu-->Met, unambiguously corresponding to the DNA mutation of CTG-->ATG in beta-globin gene codon 28.

Asunto(s)

Anemia Hemolítica/sangre , Hemoglobinas Anormales/genética , Metahemoglobinemia/sangre , Anemia Hemolítica/inducido químicamente , Anemia Hemolítica/genética , Hemoglobinas Anormales/metabolismo , Humanos , Leucina , Masculino , Metahemoglobinemia/genética , Metionina , Azul de Metileno , Persona de Mediana Edad , Mutación Puntual , Sulfonamidas