Vega López Luis, Medina Alberto, Gil-Peña Helena, Fonseca Mourelle Ariana, Gutiérrez Martínez Jose Ramón
Department of Paediatrics, Paediatric Pneumonology Unit, Hospital Universitario Central de Asturias, Oviedo, Spain.
Department of Paediatrics, Paediatric Intensive Care Unit, Hospital Universitario Central de Asturias, Oviedo, Spain.
Hemoglobin. 2024 May;48(3):192-195. doi: 10.1080/03630269.2024.2382775. Epub 2024 Aug 2.
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 ( gene) located on chromosome 11.
我们报告了一个新的低亲和力血红蛋白病(血红蛋白奥维耶多)家系,该家系存在孤立性低氧饱和度(89 - 92%),由位于11号染色体上的血红蛋白β亚基编码基因(基因)中一个先前未描述的变异(NM_000518.5: c.115A>G;p.Thr39Ala)引起。