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Hemoglobin
international journal for hemoglobin research
Volume 22, 1998 - Issue 1
33
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Original Article

DNA Sequence Analysis Proves HB M-Milwaukee-2 is DUE to β-Globin Gene Codon 92 (CAC→TAC), The Presumed Mutation of HB M-Hyde Park HB M-Akita

, , , &
Pages 1-10 | Received 11 Apr 1997, Accepted 16 Oct 1997, Published online: 07 Jul 2009
 

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 CACTAC 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 Hb M-Akita. In addition, the DNA mutation of Hb E, GAGAAG at codon 26, was confirmed in this case.

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