Hb Chile [β28(B10)Leu→Met]: An unstable hemoglobin associated with chronic methemoglobinemia and sulfonamide or methylene blue-induced hemolytic anemia

R. Hojas-Bernal, P. McNab-Martin, Virgil F. Fairbanks, M. W. Holmes, J. D. Hoyer, D. J. McCormick, K. S. Kubik

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11 Scopus citations

Abstract

Among the causes of life-long cyanosis are congenital methemoglobinemia due to M hemoglobins, congenital methemogiobinemia 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 β28(B10)Leu→Met, unambiguously corresponding to the DNA mutation of CTG→ATG in β-globin gene codon 28.

Original languageEnglish (US)
Pages (from-to)125-134
Number of pages10
JournalHemoglobin
Volume23
Issue number2
DOIs
StatePublished - Jan 1 1999

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ASJC Scopus subject areas

  • Hematology
  • Clinical Biochemistry
  • Genetics(clinical)
  • Biochemistry, medical

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