Literature DB >> 19065339

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

Erin Dainer1, Richard Shell, Randy Miller, Joan F Atkin, Matt Pastore, Abdullah Kutlar, Lina Zhuang, Leslie Holley, Debra H Davis, Ferdane Kutlar.   

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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Year:  2008        PMID: 19065339     DOI: 10.1080/03630260802507915

Source DB:  PubMed          Journal:  Hemoglobin        ISSN: 0363-0269            Impact factor:   0.849


  4 in total

1.  A hemoglobin variant associated with neonatal cyanosis and anemia.

Authors:  Moira A Crowley; Todd L Mollan; Osheisa Y Abdulmalik; Andrew D Butler; Emily F Goodwin; Arindam Sarkar; Catherine A Stolle; Andrew J Gow; John S Olson; Mitchell J Weiss
Journal:  N Engl J Med       Date:  2011-05-12       Impact factor: 91.245

2.  Diagnosis of a rare fetal haemoglobinopathy in the age of next-generation sequencing.

Authors:  Thomas A Hooven; Ellen M Hooper; Sandeep N Wontakal; Richard O Francis; Rakesh Sahni; Margaret T Lee
Journal:  BMJ Case Rep       Date:  2016-04-19

3.  Clinical characteristics on manifestation and gene mutation of a transient neonatal cyanosis: A case report.

Authors:  Jing Yuan; Xue-Ping Zhu
Journal:  World J Clin Cases       Date:  2020-01-06       Impact factor: 1.337

4.  GNAI3: Another Candidate Gene to Screen in Persons with Ocular Albinism.

Authors:  Alejandra Young; Uma Dandekar; Calvin Pan; Avery Sader; Jie J Zheng; Richard A Lewis; Debora B Farber
Journal:  PLoS One       Date:  2016-09-08       Impact factor: 3.240

  4 in total

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