Clin Lab. 2024 Mar 1;70(3). doi: 10.7754/Clin.Lab.2023.230910.
Normal hemoglobin is a tetrameric structure, consisting of two alpha-globin chains and two nonalpha (beta, gamma, delta) chains. Hemoglobinopathies occur when the presence of gene mutations affect the molecular structure or expression of the globin chains.
We reported the case of a 9-year-old Chinese girl who presented with abnormal low oxygen saturation values on pulse oximetry and no oximetry results were obtained during blood gas analysis (BGA).
High-performance liquid chromatography (HPLC) and capillary electrophoresis demonstrated that the presence of a low oxygen affinity hemoglobin variant, characterized as hemoglobin Titusville, was proven by gene sequencing. The patient's mother and aunt also carry the hemoglobin variant, representing the first Chinese family case reported.
Hemoglobin Titusville is a rare genetic hemoglobin structural defect. early diagnosis can help patients and clinicians avoid unnecessary anxiety and costly or excessive clinical investigations.
正常血红蛋白是由两个α-球蛋白链和两个非α（β、γ、δ）链组成的四聚体结构。当基因突变的存在影响珠蛋白链的分子结构或表达时，就会发生血红蛋白病。
我们报告了一例 9 岁中国女孩的病例，其脉搏血氧饱和度仪显示异常低的氧饱和度值，而血气分析（BGA）时则无法获得血氧饱和度结果。
高效液相色谱（HPLC）和毛细管电泳表明，存在一种低氧亲和力血红蛋白变体，其特征为血红蛋白 Titusville，通过基因测序得到证实。患者的母亲和姑姑也携带这种血红蛋白变体，这是首例中国家族病例报告。
血红蛋白 Titusville 是一种罕见的遗传性血红蛋白结构缺陷。早期诊断可以帮助患者和临床医生避免不必要的焦虑和昂贵或过度的临床检查。
