Hb f-charlotte, an aγ variant with a threonine residue in position γ75 and a glycine residue in position γ136

D. Plaseska, F. Kutlar, J. B. Wilson, Y. J. Fei, T. H.J. Huisman

Research output: Contribution to journalArticle

11 Scopus citations

Abstract

Structural analyses of an abnormal ỳ chain, present in a relative amount of ∼10% in a cord blood sample of a Black newborn baby, identified two substitutions (γ75 lle←Thr and γ136 Ala←Gly) in an apparent variant of the Aγ chain. Gene mapping analysis of genomic DNA and hybridization with specific probes confirmed the presence of these two mutations and provided the evidence to indicate that the abnormal γ chain was indeed a variant ofAγ with the two listed mutations.

Original languageEnglish (US)
Pages (from-to)617-625
Number of pages9
JournalHemoglobin
Volume14
Issue number6
DOIs
Publication statusPublished - Jan 1 1990

    Fingerprint

ASJC Scopus subject areas

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

Cite this