Neonatal Med.  2023 Feb;30(1):14-19. 10.5385/nm.2023.30.1.14.

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

• Varughese PM
• Thomas S
• Nampoothiri S
• Bendapudi P

• KMID: 2540095
• DOI: http://doi.org/10.5385/nm.2023.30.1.14

Abstract

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.

Keyword

Cyanosis; Methemoglobin; Fetal hemoglobin

Figure

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  Figure 1. A suggested approach to a cyanotic baby. Abbreviations: SpO2, saturation of partial pressure oxygen; PaO2, arterial oxygen pressure.

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