Hb Hekinan observed in three chinese from macau; identification of the gag→gat mutation in the αl-globin gene

W. Zhao, J. B. Wilson, B. B. Webber, A. Kutlar, G. P. Tamagnini, B. Kuan, T. H.J. Huisnan

Research output: Contribution to journalArticle

13 Scopus citations

Abstract

Hb Hekinan, an α chain variant that is characterized by a Glu←Asp mutation at position α 27, was observed in three Chinese females attending a prenatal clinic in Macau. The relative quantities of the stable hemoglobin were 13-14% (average 13.3%; its identification was greatly aided by the separation and purification of the peptides by reversed phase high performance liquid chromatography. Dot-blot analysis of amplified DNA with 32p-labeled probes located the mutation in codon 27 of the minor α1-globin gene; the change involved a GAG (coding for glutamic acid) to GAT (coding for aspartic acid) mutation.

Original languageEnglish (US)
Pages (from-to)627-635
Number of pages9
JournalHemoglobin
Volume14
Issue number6
DOIs
StatePublished - 1990

ASJC Scopus subject areas

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

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