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

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.

Keywords:

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Neonatal Cyanosis Due to a Novel Fetal Hemoglobin: Hb F-Circleville [^Gγ63(E7)His→Leu, CAT>CTT]

Information for

Open access

Opportunities

Help and information

Neonatal Cyanosis Due to a Novel Fetal Hemoglobin: Hb F-Circleville [Gγ63(E7)His→Leu, CAT>CTT]

Abstract

Reprints and Corporate Permissions

Academic Permissions

Related research

To cite this article:

Download citation

Information for

Open access

Opportunities

Help and information

Keep up to date

Your download is now in progress and you may close this window

Login or register to access this feature

Neonatal Cyanosis Due to a Novel Fetal Hemoglobin: Hb F-Circleville [^Gγ63(E7)His→Leu, CAT>CTT]