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

doi:10.3109/03630269809071512

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

Laboratory Medicine and Pathology

Research output: Contribution to journal › Article › peer-review

4 Scopus citations

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 language	English (US)
Pages (from-to)	1-10
Number of pages	10
Journal	Hemoglobin
Volume	22
Issue number	1
DOIs	https://doi.org/10.3109/03630269809071512
State	Published - 1998

ASJC Scopus subject areas

Hematology
Clinical Biochemistry
Genetics(clinical)
Biochemistry, medical

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title = "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",

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.",

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T1 - 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

AU - Hutt, P. J.

AU - Pisciotta, A. V.

AU - Fairbanks, V. F.

AU - Thibodeau, S. N.

AU - Green, M. M.

PY - 1998

Y1 - 1998

N2 - 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.

AB - 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.

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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

Abstract

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