Hemoglobin Oviedo (c.115A > G; p.T39A): A Cause of Low Oxygen Saturation

Abstract

We report a new low-affinity hemoglobinopathy (Hemoglobin Oviedo) in a family with isolated low oxygen saturation (89–92%) caused by a previously undescribed variant (NM_000518.5: c.115A > G;p.Thr39Ala) in the hemoglobin subunit β encoding gene (HBB gene) located on chromosome 11.

Keywords:

• Hemoglobin
• Oviedo
• low
• oxygen
• saturation

Acknowledgements

We present a genomic sequence variant that causes a low affinity hemoglobinopathy, not previously reported in HbVar. We suggest naming it after the city in which it was discovered: Hemoglobin Oviedo.

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

Additional information

Funding

No funding sources were used in this study.