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Exon sequencing of the alpha-2-globin gene for the differential diagnosis of central cyanosis in newborns: a case report.

Chungwoo ShinMee HongMyungshin KimJung Hyun Lee
Published in: BMC pediatrics (2019)
Hb M disease is a benign disease and does not require any treatment whereas acquired methemoglobinemia is a potentially fatal condition. Neonatologists should be aware that low oxygenation status on pulse oximetry in the face of normal arterial blood saturation values might indicate the possibility of Hb M disease in early neonatal cyanosis, irrespective of MetHb value.
Keyphrases
  • blood pressure
  • single cell
  • gene expression
  • genome wide
  • copy number
  • blood flow
  • combination therapy
  • genome wide identification