Deyell Rebecca, Jackson Shannon, Spier Sheldon, Le Doan, Poon Man-Chiu
Department of Pediatrics, University of Calgary and Calgary Health Region, Calgary, AB, Canada.
J Pediatr Hematol Oncol. 2006 Feb;28(2):100-2. doi: 10.1097/01.mph.0000200685.33291.0a.
The authors describe a 10-year-old Caucasian boy who presented with abnormally low oxygen saturation values on pulse oximetry after a routine tonsillectomy. He was asymptomatic and there was no personal or family history of respiratory, cardiac, or hematologic disorders. Multiple initial investigations were completed without diagnostic yield. Eventually, hemoglobinopathy studies identified the presence of a low oxygen affinity hemoglobin variant, characterized as hemoglobin Titusville. Hemoglobinopathies remain highly prevalent worldwide, with more than 65 low oxygen affinity hemoglobin variants identified to date. Early recognition of abnormal hemoglobin variants in asymptomatic patients may avoid extensive, unnecessary medical investigations.
作者描述了一名10岁的高加索男孩,他在常规扁桃体切除术后经脉搏血氧饱和度测定显示氧饱和度值异常低。他没有症状,也没有呼吸、心脏或血液系统疾病的个人或家族史。最初进行了多项检查,但均未得出诊断结果。最终,血红蛋白病研究发现存在一种低氧亲和力血红蛋白变体,被鉴定为蒂特斯维尔血红蛋白。血红蛋白病在全球范围内仍然非常普遍,迄今为止已鉴定出65种以上的低氧亲和力血红蛋白变体。对无症状患者的异常血红蛋白变体进行早期识别可以避免广泛、不必要的医学检查。