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 journalArticle

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 languageEnglish (US)
Pages (from-to)381-391
Number of pages11
JournalHemoglobin
Volume15
Issue number5
DOIs
StatePublished - 1991
Externally publishedYes

ASJC Scopus subject areas

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

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