Hb Chile [beta28(B10)Leu-->Met]: an unstable hemoglobin associated with chronic methemoglobinemia and sulfonamide or methylene blue-induced hemolytic anemia

Hemoglobin. 1999 May;23(2):125-34. doi: 10.3109/03630269908996157.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Anemia, Hemolytic / blood*
  • Anemia, Hemolytic / chemically induced
  • Anemia, Hemolytic / genetics
  • Hemoglobins, Abnormal / genetics*
  • Hemoglobins, Abnormal / metabolism
  • Humans
  • Leucine
  • Male
  • Methemoglobinemia / blood*
  • Methemoglobinemia / genetics
  • Methionine
  • Methylene Blue
  • Middle Aged
  • Point Mutation
  • Sulfonamides

Substances

  • Hemoglobins, Abnormal
  • Sulfonamides
  • hemoglobin Chile
  • Methionine
  • Leucine
  • Methylene Blue