Abstract：
A 45-year-old man presented with fatigue and pain in the finger joints. Despite having a history of suspected sideroblastic anemia since the age of 18 years, he had not been followed up for years. Upon presentation, laboratory data revealed microcytic anemia and elevated serum ferritin levels. In addition, ringed sideroblasts were increased in the bone marrow. A liver biopsy revealed hemochromatosis and cirrhosis. Furthermore, genetic analysis revealed that he harbored the ALAS2 R452H mutation, leading to the diagnosis of X-linked sideroblastic anemia (XLSA). Accordingly, oral folate or vitamin (Vit) B12 was administered, but his anemia did not respond. However, his hemoglobin level increased from 7 to 11 g/dl with an additional prescription of oral VitB6, which facilitated the patient to undergo phlebotomy to ameliorate organ dysfunctions caused by iron overload. Previous research has revealed that ALAS2 R452 mutations confer poor responses to VitB6 therapy. Hence, accrual of patients with an unexpectedly better response, which was observed in our case, may help elucidate the pathogenesis of and therapies for XLSA.
摘要：
一名45岁的男子出现手指关节疲劳和疼痛。尽管从18岁起就有疑似铁粒幼细胞贫血的病史，他已经多年没有被跟踪了。在介绍时，实验室数据显示小细胞性贫血和血清铁蛋白水平升高.此外,骨髓中环状的铁胚细胞增加。肝活检显示血色素沉着症和肝硬化。此外，遗传分析显示他有ALAS2R452H突变,导致X连锁铁粒母细胞性贫血（XLSA）的诊断。因此，口服叶酸或维生素（Vit）B12，但是他的贫血没有反应。然而,他的血红蛋白水平从7g/dl增加到11g/dl，再加上口服VitB6，这有助于患者进行静脉切开术，以改善由铁超负荷引起的器官功能障碍。先前的研究表明，ALAS2R452突变对VitB6治疗的反应较差。因此，患者反应出乎意料地更好，这在我们的案例中被观察到，可能有助于阐明XLSA的发病机制和治疗方法。
