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Hemoglobin
international journal for hemoglobin research
Volume 32, 2008 - Issue 6
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Neonatal Cyanosis Due to a Novel Fetal Hemoglobin: Hb F-Circleville [Gγ63(E7)His→Leu, CAT>CTT]

Erin Dainer Department of Medicine, Medical College of Georgia, Augusta, GA, USA
,
Richard Shell Department of Pulmonary Medicine, Nationwide Children's Hospital, Columbus, OH, USA
,
Randy Miller Department of Neonatology, Nationwide Children's Hospital, Columbus, OH, USA
,
Joan F. Atkin Division of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, OH, USA
,
Matt Pastore Division of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, OH, USA
,
Abdullah Kutlar Department of Medicine, Medical College of Georgia, Augusta, GA, USA
,
Lina Zhuang Department of Medicine, Medical College of Georgia, Augusta, GA, USA
,
Leslie Holley Department of Medicine, Medical College of Georgia, Augusta, GA, USA
,
Debra H. Davis Department of Medicine, Medical College of Georgia, Augusta, GA, USA
&
Ferdane Kutlar Department of Medicine, Medical College of Georgia, Augusta, GA, USACorrespondence[email protected]
 show all
Pages 596-600 | Received 09 Apr 2008, Accepted 10 Jul 2008, Published online: 07 Jul 2009
 
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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.

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