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.
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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.