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

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

Access to Document

10.3109/03630269108998858

Fingerprint Dive into the research topics of 'HB port huron [α56(e5)LYS → åg]: A new α chain variant'. Together they form a unique fingerprint.

Cite this

Zwerdling, T., Williams, S., Nasr, S. A., & Rucknagel, D. L. (1991). HB port huron [α56(e5)LYS → åg]: A new α chain variant. Hemoglobin, 15(5), 381-391. https://doi.org/10.3109/03630269108998858

@article{a187d4a216884e23ab92c046d3823618,

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.",

author = "Theodore Zwerdling and S. Williams and Nasr, {S. A.} and Rucknagel, {D. L.}",

year = "1991",

doi = "10.3109/03630269108998858",

language = "English (US)",

volume = "15",

pages = "381--391",

journal = "Hemoglobin",

issn = "0363-0269",

publisher = "Informa Healthcare",

number = "5",

}

TY - JOUR

T1 - HB port huron [α56(e5)LYS → åg]

T2 - A new α chain variant

AU - Zwerdling, Theodore

AU - Williams, S.

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.

UR - http://www.scopus.com/inward/record.url?scp=0025954547&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0025954547&partnerID=8YFLogxK

U2 - 10.3109/03630269108998858

DO - 10.3109/03630269108998858

M3 - Article

C2 - 1802882

AN - SCOPUS:0025954547

VL - 15

SP - 381

EP - 391

JO - Hemoglobin

JF - Hemoglobin

SN - 0363-0269

IS - 5

ER -