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Table 1 Summary of hemoglobin M diseases presenting as neonatal cyanosis

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

Reference

Form of genetic variation

Hemoglobin subunit

MetHb level estimated by co-oximetry

Hemoglobin variants

Viana et al., 2014 [1]

De novo mutation

Alpha 2

12.5%

Hb M Iwate

Estey et al., 2015 [2]

Familial

Alpha 2

Measuring error

Hb M Boston

Elboraee et al., 2015 [5]

Familial

Alpha 2

Measuring error

Hb M Boston

Upadhye et al., 2015 [11]

Familial

Alpha

13%

Hb M Boston

Alonso-Ojembarrena et al., 2016 [14]

Familial

Gamma

12.3%

Hb M Osaka

  1. MetHb methemoglobin