Hb bicětre or α2β263(E7)His → pro in a white male: Clinical observations over a period of 25 years

D. R. Miller, J. B. Wilson, Abdullah Kutlar, T. H.J. Hulsman

Research output: Contribution to journalArticle

1 Scopus citations

Abstract

A description is given of clinical observations over a period of 25 years for a 26‐year‐old white male with a heterozygosity for the β‐chain variant, Hb Bicětre, in which β63His is replaced by Pro. The variant was identified through analysis of tryptic peptides from a digest of the βX‐chain isolated by PCMB precipitation and purified by chromatography. Similarity between the clinical histories of the first (French) heterozygote and our patient was most striking, including improvement after splenectomy.

Original languageEnglish (US)
Pages (from-to)209-214
Number of pages6
JournalAmerican Journal of Hematology
Volume21
Issue number2
DOIs
StatePublished - Jan 1 1986

Keywords

  • HPLC
  • Heinz bodies
  • His → Pro substitution
  • hemolytic anemia
  • unstable Hb

ASJC Scopus subject areas

  • Hematology

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