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.
journal_name
Hemoglobinjournal_title
Hemoglobinauthors
Hojas-Bernal R,McNab-Martin P,Fairbanks VF,Holmes MW,Hoyer JD,McCormick DJ,Kubik KSdoi
10.3109/03630269908996157keywords:
subject
Has Abstractpub_date
1999-05-01 00:00:00pages
125-34issue
2eissn
0363-0269issn
1532-432Xjournal_volume
23pub_type
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