Literature DB >> 1385361

A second observation of the fetal methemoglobin variant Hb F-M-Fort Ripley or alpha 2G gamma 2(92)(F8)His----Tyr.

T P Molchanova1, J B Wilson, L H Gu, R D Hain, L S Chang, A O Poon, T H Huisman.   

Abstract

We have identified a second baby with the fetal methemoglobin F-M-Fort Ripley. It was observed in a Caucasian infant from Canada; at least eleven additional members of that family were known to have had a neonatal cyanosis similar to that seen in the propositus and in a previously described baby (2). Sequencing of amplified DNA that included (part of) the G gamma gene greatly facilitated the characterization. The G gamma X chain was readily isolated by reversed phase high performance liquid chromatography; its quantity was approximately 12.5% of total gamma. Interestingly, the baby also carried the A gamma T mutation on one chromosome, either in cis or in trans to the G gamma X mutation. Hb F-M-Fort Ripley could be isolated in reasonably pure form by DEAE-cellulose chromatography. The isolated Hb FX was unstable, had spectral changes characteristic for the M-hemoglobins, while its methemoglobin derivative reacted rapidly with cyanide. Oxygen affinity data could not be obtained. It is suggested that the formation of a rather large amount (approximately 25%) of mixed hybrids (alpha 2G gamma X.gamma) with low oxygen affinity is the main cause for the occurrence of the neonatal cyanosis.

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Year:  1992        PMID: 1385361     DOI: 10.3109/03630269209005690

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.  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

3.  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

4.  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
  4 in total

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