Abstract：
Hemoglobin (Hb) Volga is a rare, unstable β-chain hemoglobin variant (β27 Ala→Asp), causing chronic hemolytic anemia. This study presents two members of a Danish family, splenectomized due to Hb Volga at and with multiple thrombotic events. The proband was diagnosed with Hb Volga 9 years old and splenectomy was performed as a part of treatment. Throughout his life, he experienced multiple superficial thrombophlebitis, two episodes of distal deep venous thrombosis (DVT) on lower extremities (age 32 and 33) and a transient ischemic attack (TIA) presented as amaurosis fugax (age 51). Thrombophilia investigation was normal. The proband\'s son was diagnosed with Hb Volga and underwent splenectomy at the age of 6. Despite anticoagulation therapy, he suffered from multiple venous thromboembolic events in his youth and died of chronic pulmonary embolism (PE)/pulmonary hypertension combined with infection. Given the observed propensity for multiple thromboses in these two patients, a literature review was conducted investigating reported occurrence of thrombotic events in individuals with Hb Volga.
Currently 25 cases of Hb Volga are reported worldwide. The clinical symptoms primarily described are related to hemolytic anemia. Splenectomy is reported in 15 patients. Thromboses have previously been reported in only three patients who were also splenectomized. These cases involved DVT and PE, myocardial infarction, and an unspecified thrombotic event. The proband represents the first reported Hb Volga case with both venous and arterial thrombotic disorders. The exact mechanism underlying thrombotic tendency in patients with Hb Volga remains unknown, but it is probably associated with splenectomy.
Currently 25 cases of Hb Volga are reported worldwide. The clinical symptoms primarily described are related to hemolytic anemia. Splenectomy is reported in 15 patients. Thromboses have previously been reported in only three patients who were also splenectomized. These cases involved DVT and PE, myocardial infarction, and an unspecified thrombotic event. The proband represents the first reported Hb Volga case with both venous and arterial thrombotic disorders. The exact mechanism underlying thrombotic tendency in patients with Hb Volga remains unknown, but it is probably associated with splenectomy.
摘要：
血红蛋白（Hb）伏尔加河是一种罕见的，不稳定的β链血红蛋白变体（β27Ala→Asp），导致慢性溶血性贫血.这项研究展示了一个丹麦家庭的两名成员，由于Hb伏尔加河和多个血栓事件而切除脾。先证者被诊断为HbVolga9岁，并进行了脾切除术作为治疗的一部分。在他的一生中，他经历了多发性浅表性血栓性静脉炎，两例下肢远端深静脉血栓形成(DVT)(32岁和33岁)和短暂性脑缺血发作(TIA),表现为黑蒙(51岁).血栓形成调查正常。先证者的儿子被诊断出患有HbVolga，并在6岁时接受了脾切除术。尽管抗凝治疗,他年轻时发生多次静脉血栓栓塞事件，死于慢性肺栓塞（PE）/肺动脉高压合并感染。鉴于观察到这两名患者的多发性血栓形成倾向，我们进行了文献综述,调查HbVolga患者中报告的血栓事件的发生情况.
目前全球报告25例Hb伏尔加河病。主要描述的临床症状与溶血性贫血有关。据报道15例患者行脾切除术。先前仅报道了三名同样被脾切除的患者发生血栓。这些病例涉及DVT和PE,心肌梗塞,和未指明的血栓性事件。先证者代表了首次报道的同时患有静脉和动脉血栓性疾病的HbVolga病例。HbVolga患者血栓形成倾向的确切机制仍然未知，但可能与脾切除有关.
目前全球报告25例Hb伏尔加河病。主要描述的临床症状与溶血性贫血有关。据报道15例患者行脾切除术。先前仅报道了三名同样被脾切除的患者发生血栓。这些病例涉及DVT和PE,心肌梗塞,和未指明的血栓性事件。先证者代表了首次报道的同时患有静脉和动脉血栓性疾病的HbVolga病例。HbVolga患者血栓形成倾向的确切机制仍然未知，但可能与脾切除有关.
