Neonatal cyanosis due to a novel fetal hemoglobin: Hb F-Circleville [ Gγ63(E7)His→Leu, CAT>CTT]

Erin Dainer, Richard Shell, Randy Miller, Joan F. Atkin, Matt Pastore, Abdullah Kutlar, Lina Zhuang, Leslie Holley, Debra H. Davis, Ferdane Kutlar

Research output: Contribution to journalArticle

14 Scopus citations

Abstract

Neonatal cyanosis can result from a multitude of acquired and inherited causes. Cyanosis resulting from fetal M hemoglobin (Hb) variants is very rare. Only two Gγ variants causing methemoglobinemia and cyanosis in the newborn have been reported to date. Here we describe a novel fetal Hb variant, Hb F-Circleville [Gγ63(E7)His→Leu], associated with methemoglobinemia and cyanosis in the newborn. The patient's sister also had neonatal cyanosis at birth.

Original languageEnglish (US)
Pages (from-to)596-600
Number of pages5
JournalHemoglobin
Volume32
Issue number6
DOIs
Publication statusPublished - Nov 1 2008

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Keywords

  • DNA sequencing
  • Hemoglobin (Hb) variant
  • High performance liquid chromatography (HPLC)
  • Neonatal cyanosis
  • γ chain

ASJC Scopus subject areas

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

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