Hb Chile [beta28(B10)Leu-->Met]: an unstable hemoglobin associated with chronic methemoglobinemia and sulfonamide or methylene blue-induced hemolytic anemia.
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.
Hojas-Bernal
R
R
Facultad de Medicina, Universidad de Chile, Departamento de Medicina Interna, Hospital Clinica San Borja-Arriaran, Santiago.
McNab-Martin
P
P
Fairbanks
V F
VF
Holmes
M W
MW
Hoyer
J D
JD
McCormick
D J
DJ
Kubik
K S
KS
D000743:Anemia, Hemolytic / Q000097:blood* / Q000139:chemically induced / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007930:Leucine; D008297:Male; D008708:Methemoglobinemia / Q000097:blood* / Q000235:genetics; D008715:Methionine; D008751:Methylene Blue; D008875:Middle Aged; D017354:Point Mutation; D013449:Sulfonamides
D006455:Hemoglobins, Abnormal; D013449:Sulfonamides; C119897:hemoglobin Chile; D008715:Methionine; D007930:Leucine; D008751:Methylene Blue