Neonatal Medicine (Feb 2023)

Breaking Free from Your Fetal Chains: A Case-Based Review of the Literature on Gamma Chain Variant Hemoglobinopathies

  • Pearl Mary Varughese,
  • Sajan Thomas,
  • Sheela Nampoothiri,
  • Perraju Bendapudi

DOI
https://doi.org/10.5385/nm.2023.30.1.14
Journal volume & issue
Vol. 30, no. 1
pp. 14 – 19

Abstract

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Methemoglobinemia is a dyshemoglobinemia characterized by cyanosis and reduced oxygen saturation with increased methemoglobin values. The etiology may be congenital or acquired, with the latter being more common. We report a case of a full-term neonate who presented with transient cyanosis and methemoglobinemia caused by a mutation in the gamma chain of fetal hemoglobin.

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