Aplastic crisis revealing the diagnosis of Hb Evans [α62(E11) Val→Met, GTG→ATG (α2)] in a Hispanic kindred: Case report and review

Laurie A. Steiner, Jack Van Hoff, Ferdane Kutlar, Patrick G. Gallagher

Research output: Contribution to journalArticle

4 Scopus citations

Abstract

This report describes a Hispanic girl who presented in aplastic crisis due to parvovirus infection. She was subsequently found to have a chronic hemolytic anemia secondary to an unstable hemoglobinopathy. Genetic testing revealed that the girl and two symptomatic family members had Hb Evans [α62(E11) Val→Met, GTG→ATG (α2)], an unstable hemoglobin (Hb) variant due to a mutation in the α2-globin chain. Hb Evans has been described only once previously, in a Caucasian kindred. Literature review indicates aplastic crisis is a rare initial presentation of unstable hemoglobinopathies and that these disorders are infrequent but important causes of hemolytic anemia in Hispanic patients.

Original languageEnglish (US)
Pages (from-to)409-416
Number of pages8
JournalHemoglobin
Volume31
Issue number4
DOIs
StatePublished - Oct 1 2007

Keywords

  • Aplastic anemia
  • Hb Evans
  • Unstable hemoglobin (Hb)

ASJC Scopus subject areas

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

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