DNA sequence analysis proves Hb M-Milwaukee-2 is due to β-globin gene codon 92 (CAC→TAC), the presumed mutation of Mb M-Hyde park and Hb M-Akita

P. J. Hutt, A. V. Pisciotta, V. F. Fairbanks, S. N. Thibodeau, M. M. Green

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Abstract

Among the causes of congenital methemoglobinemia, Hb M-Milwaukee-2 was one of the earliest described, in a patient who also had Hb E trait. The structure of Hb M-Milwaukee-2 has been elusive. DNA sequence analysis, as here reported, proves that this hemoglobin variant is due to the mutation CAC→TAC at codon 92 of the β-globin gene, corresponding to the substitution of tyrosine for histidine. This mutation is identical with that presumed to be the cause of Hb M-Hyde Park and Hb M-Akita. In addition, the DNA mutation of Hb E, GAG→AAG at codon 26, was confirmed in this case.

Original languageEnglish (US)
Pages (from-to)1-10
Number of pages10
JournalHemoglobin
Volume22
Issue number1
DOIs
StatePublished - Jan 1 1998

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ASJC Scopus subject areas

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

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