Urroz Maitane Echeverría, Delgado Ana Isabel López, Conejero Raquel Oliveros, Nistal David Álvarez
Laboratory of Biochemistry, Donostia University Hospital, Hernani (Gipuzkoa), Donostia, Spain.
Adv Lab Med. 2025 Jan 23;6(2):213-216. doi: 10.1515/almed-2024-0175. eCollection 2025 Jun.
Hemoglobinopathies are disorders affecting the structure, function and/or production of hemoglobin. These conditions are caused by mutations in the genes encoding globin synthesis. The highly variable clinical manifestations of hemoglobin disorders range from asymptomatic forms to severe anemia. Laboratory tests are crucial for diagnosis.
We report the case of a patient who presented with asthenia. Since the patient had a family history of hemoglobonipathies, screening for erythropathies was performed. High-resolution liquid chromatography (HPLC) showed a normal distribution of hemoglobin levels. In contrast, capillary zone electrophoresis at alkaline pH demonstrated an unidentified rapid migration peak. Genetic testing revealed a mutation in the gene causing Hofu hemoglobin disease.
The hemoglobin variant Hofu is slightly unstable. While heterozygous carriers most frequently remain asymptomatic, they may develop anemia in the presence of other concomitant disorders. Distinctively, the retention time of Hb Hofu on HPLC is very close to that of HbA (0) and they often elute together. Therefore, Hb Hofu may remain masked, thereby leading to the misinterpretation of test results.
血红蛋白病是影响血红蛋白结构、功能和/或生成的疾病。这些病症由编码珠蛋白合成的基因突变引起。血红蛋白疾病的临床表现高度可变，从无症状形式到严重贫血不等。实验室检查对诊断至关重要。
我们报告一例表现为乏力的患者。由于该患者有血红蛋白病家族史，因此进行了红细胞病筛查。高分辨率液相色谱法（HPLC）显示血红蛋白水平分布正常。相比之下，碱性pH条件下的毛细管区带电泳显示出一个不明的快速迁移峰。基因检测发现导致福布血红蛋白病的基因发生突变。
血红蛋白变体福布略有不稳定。虽然杂合子携带者大多无症状，但在存在其他并发疾病时可能会发生贫血。独特的是，Hb福布在HPLC上的保留时间与HbA（0）非常接近，它们常常一起洗脱。因此，Hb福布可能会被掩盖，从而导致检测结果解读错误。
