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

13 Citations (Scopus)

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
StatePublished - Nov 1 2008

Fingerprint

Fetal Hemoglobin
Cyanosis
Hemoglobin M
Methemoglobinemia
Newborn Infant
Siblings
Parturition

Keywords

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

ASJC Scopus subject areas

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

Cite this

Neonatal cyanosis due to a novel fetal hemoglobin : Hb F-Circleville [ Gγ63(E7)His→Leu, CAT>CTT]. / Dainer, Erin; Shell, Richard; Miller, Randy; Atkin, Joan F.; Pastore, Matt; Kutlar, Abdullah; Zhuang, Lina; Holley, Leslie; Davis, Debra H.; Kutlar, Ferdane.

In: Hemoglobin, Vol. 32, No. 6, 01.11.2008, p. 596-600.

Research output: Contribution to journalArticle

Dainer, E, Shell, R, Miller, R, Atkin, JF, Pastore, M, Kutlar, A, Zhuang, L, Holley, L, Davis, DH & Kutlar, F 2008, 'Neonatal cyanosis due to a novel fetal hemoglobin: Hb F-Circleville [ Gγ63(E7)His→Leu, CAT>CTT]', Hemoglobin, vol. 32, no. 6, pp. 596-600. https://doi.org/10.1080/03630260802507915
Dainer, Erin ; Shell, Richard ; Miller, Randy ; Atkin, Joan F. ; Pastore, Matt ; Kutlar, Abdullah ; Zhuang, Lina ; Holley, Leslie ; Davis, Debra H. ; Kutlar, Ferdane. / Neonatal cyanosis due to a novel fetal hemoglobin : Hb F-Circleville [ Gγ63(E7)His→Leu, CAT>CTT]. In: Hemoglobin. 2008 ; Vol. 32, No. 6. pp. 596-600.
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