Literature DB >> 2470017

Mutant fetal hemoglobin causing cyanosis in a newborn.

J R Priest1, J Watterson, R T Jones, A E Faassen, B E Hedlund.   

Abstract

A well but cyanotic newborn was found to have a mutant gamma-globin chain, leading to a functionally abnormal fetal hemoglobin. A single amino acid substitution was found in a site consistent with known adult M hemoglobins. This patient showed no clinical evidence of cyanosis at 5 weeks of age as gamma-chain synthesis was replaced by beta-chain synthesis. A sibling born 20 months later was also cyanotic and the same mutant hemoglobin was found.

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Year:  1989        PMID： 2470017

Source DB:  PubMed          Journal:  Pediatrics        ISSN： 0031-4005            Impact factor:   7.124


  5 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.  Congenital methemoglobinaemia due to Hb F-M-Fort Ripley in a preterm newborn.

Authors:  Satvinder Ghotra; Krista Jangaard; Chantale Pambrun; Conrad Vincent Fernandez
Journal:  BMJ Case Rep       Date:  2016-03-11

Review 3.  Recommendations for diagnosis and treatment of methemoglobinemia.

Authors:  Achille Iolascon; Paola Bianchi; Immacolata Andolfo; Roberta Russo; Wilma Barcellini; Elisa Fermo; Gergely Toldi; Stefano Ghirardello; Davis Rees; Richard Van Wijk; Antonis Kattamis; Patrick G Gallagher; Noemi Roy; Ali Taher; Razan Mohty; Andreas Kulozik; Lucia De Franceschi; Antonella Gambale; Mariane De Montalembert; Gian Luca Forni; Cornelis L Harteveld; Josef Prchal
Journal:  Am J Hematol       Date:  2021-09-23       Impact factor: 13.265

4.  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

5.  Case report of congenital methemoglobinemia: an uncommon cause of neonatal cyanosis.

Authors:  Allison N J Lyle; Rebecca Spurr; Danielle Kirkey; Catherine M Albert; Zeenia Billimoria; Jose Perez; Mihai Puia-Dumitrescu
Journal:  Matern Health Neonatol Perinatol       Date:  2022-09-16
  5 in total

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