2. Academic Validation
  3. Neonatal cyanosis due to a novel fetal hemoglobin: Hb F-Circleville [Ggamma63(E7)His-->Leu, CAT>CTT]

Neonatal cyanosis due to a novel fetal hemoglobin: Hb F-Circleville [Ggamma63(E7)His-->Leu, CAT>CTT]

  • Hemoglobin. 2008;32(6):596-600. doi: 10.1080/03630260802507915.
Erin Dainer 1,  Richard Shell,  Randy Miller,  Joan F Atkin,  Matt Pastore,  Abdullah Kutlar,  Lina Zhuang,  Leslie Holley,  Debra H Davis,  Ferdane Kutlar
Affiliations

Affiliation

  • 1 Department of Medicine, Medical College of Georgia, Augusta, GA 30912, USA.
PMID: 19065339 DOI: 10.1080/03630260802507915
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 (G)gamma variants causing methemoglobinemia and cyanosis in the newborn have been reported to date. Here we describe a novel fetal Hb variant, Hb F-Circleville [Ggamma63(E7)His-->Leu], associated with methemoglobinemia and cyanosis in the newborn. The patient's sister also had neonatal cyanosis at birth.

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