TY - JOUR
T1 - Hb Chile [β28(B10)Leu→Met]
T2 - An unstable hemoglobin associated with chronic methemoglobinemia and sulfonamide or methylene blue-induced hemolytic anemia
AU - Hojas-Bernal, R.
AU - McNab-Martin, P.
AU - Fairbanks, Virgil F.
AU - Holmes, M. W.
AU - Hoyer, J. D.
AU - McCormick, D. J.
AU - Kubik, K. S.
PY - 1999
Y1 - 1999
N2 - 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.
AB - 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.
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U2 - 10.3109/03630269908996157
DO - 10.3109/03630269908996157
M3 - Article
C2 - 10335980
AN - SCOPUS:0032588819
SN - 0363-0269
VL - 23
SP - 125
EP - 134
JO - Hemoglobin
JF - Hemoglobin
IS - 2
ER -