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Hemoglobin Oviedo (c.115A > G; p.T39A): A Cause of Low Oxygen Saturation
Luis Vega López1, Alberto Medina2, Helena Gil-Peña3,4
1Department of Paediatrics, Paediatric Pneumonology Unit, Hospital Universitario Central de Asturias, Oviedo, Spain.
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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