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

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.
Authors	R Hojas-Bernal, P McNab-Martin, V F Fairbanks, M W Holmes, J D Hoyer, D J McCormick, K S Kubik
Journal	Hemoglobin (Hemoglobin) Vol. 23 Issue 2 Pg. 125-34 (May 1999) ISSN: 0363-0269 [Print] England
PMID	10335980 (Publication Type: Case Reports, Journal Article)
Chemical References	Hemoglobins, Abnormal Sulfonamides hemoglobin Chile Methionine Leucine Methylene Blue
Topics	Anemia, Hemolytic (blood, chemically induced, genetics) Hemoglobins, Abnormal (genetics, metabolism) Humans Leucine Male Methemoglobinemia (blood, genetics) Methionine Methylene Blue Middle Aged Point Mutation Sulfonamides

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