HB port huron [α56(e5)LYS → åg]: A new α chain variant

Theodore Zwerdling; S. Williams; S. A. Nasr; D. L. Rucknagel

doi:10.3109/03630269108998858

HB port huron [α56(e5)LYS → åg]: A new α chain variant

Theodore Zwerdling, S. Williams, S. A. Nasr, D. L. Rucknagel

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

5 Scopus citations

Abstract

We have determined the structural abnormality of a putative Hb E detected in an African-American family with no apparent Asian ancestry. The tryptic peptide map performed by high performance liquid chromatography showed that the electrophoretic variant was indeed Hb E [β 26 (B8)Glu→Lys]. In addition, the tryptic map showed an abnormal peptide adjacent to the αT-6 peptide. The amino acid analysis and confirmatory restriction analysis of the DNA showed that a second mutation was also present, characterized by a substitution of arginine for lysine at residue 56 of the a chain. The variant is clinically silent and has been named Hb Port Huron for the city in Michigan where the family resides.

Original language	English (US)
Pages (from-to)	381-391
Number of pages	11
Journal	Hemoglobin
Volume	15
Issue number	5
DOIs	https://doi.org/10.3109/03630269108998858
State	Published - 1991
Externally published	Yes

ASJC Scopus subject areas

Hematology
Genetics(clinical)
Clinical Biochemistry
Biochemistry, medical
Biochemistry

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title = "HB port huron [α56(e5)LYS → {\aa}g]: A new α chain variant",

abstract = "We have determined the structural abnormality of a putative Hb E detected in an African-American family with no apparent Asian ancestry. The tryptic peptide map performed by high performance liquid chromatography showed that the electrophoretic variant was indeed Hb E [β 26 (B8)Glu→Lys]. In addition, the tryptic map showed an abnormal peptide adjacent to the αT-6 peptide. The amino acid analysis and confirmatory restriction analysis of the DNA showed that a second mutation was also present, characterized by a substitution of arginine for lysine at residue 56 of the a chain. The variant is clinically silent and has been named Hb Port Huron for the city in Michigan where the family resides.",

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year = "1991",

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T1 - HB port huron [α56(e5)LYS → åg]

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AU - Zwerdling, Theodore

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AU - Nasr, S. A.

AU - Rucknagel, D. L.

PY - 1991

Y1 - 1991

N2 - We have determined the structural abnormality of a putative Hb E detected in an African-American family with no apparent Asian ancestry. The tryptic peptide map performed by high performance liquid chromatography showed that the electrophoretic variant was indeed Hb E [β 26 (B8)Glu→Lys]. In addition, the tryptic map showed an abnormal peptide adjacent to the αT-6 peptide. The amino acid analysis and confirmatory restriction analysis of the DNA showed that a second mutation was also present, characterized by a substitution of arginine for lysine at residue 56 of the a chain. The variant is clinically silent and has been named Hb Port Huron for the city in Michigan where the family resides.

AB - We have determined the structural abnormality of a putative Hb E detected in an African-American family with no apparent Asian ancestry. The tryptic peptide map performed by high performance liquid chromatography showed that the electrophoretic variant was indeed Hb E [β 26 (B8)Glu→Lys]. In addition, the tryptic map showed an abnormal peptide adjacent to the αT-6 peptide. The amino acid analysis and confirmatory restriction analysis of the DNA showed that a second mutation was also present, characterized by a substitution of arginine for lysine at residue 56 of the a chain. The variant is clinically silent and has been named Hb Port Huron for the city in Michigan where the family resides.

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JF - Hemoglobin

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HB port huron [α56(e5)LYS → åg]: A new α chain variant

Abstract

ASJC Scopus subject areas

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