Treatment and Management of Late Complications in Hereditary Hemolytic Anemia
Treatment and Management of Late Complications in Hereditary Hemolytic Anemia
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DOI：
10.15264/cpho.2016.23.1.1
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发表时间：
2016-01-01
期刊：
影响因子：
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通讯作者：
Chueh, Hee Won
中科院分区：
文献类型：
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作者：
Chueh, Hee Won
遗传性溶血性贫血是一种异质性很强的疾病，红细胞结构蛋白异常、珠蛋白异常或酶缺陷导致寿命缩短。在揭示其病理生理和遗传背景方面取得了很大进展，但对这些患者的终身护理计划尚未建立。所有的遗传性溶血性贫血患者都有三个共同的问题：输血依赖、铁超载和铁螯合治疗。遗传性球形红细胞增多症（HS）患者通常表现为新生儿期和婴儿期严重贫血，但成年后输血需求可能减少。但地中海贫血或镰状细胞病患者通常终生依赖输血。在这些患者中维持最佳血红蛋白（Hb）水平至关重要，因为纠正贫血和稀释异常Hb有助于预防这些患者中经常发生的某些并发症。频繁输血可导致输血介导性感染和血色素沉着症。铁螯合治疗应尽早开始，以防止永久性器官损害。叶酸治疗对遗传性球形红细胞增多症患者有帮助。应在5岁时开始对胆汁淤积进行定期评估，如果患者患有胆囊炎，可以考虑脾切除术合并胆囊切除术。羟基脲可用于减少地中海贫血和镰状细胞病患者的输血需求和预防并发症。对于遗传性溶血性贫血患者的长期治疗缺乏共识，特别是对于成人患者。但是，在韩国社会背景下，需要进一步努力建立遗传性溶血性贫血患者的长期随访和管理指南。
Hereditary hemolytic anemia is a very heterogeneous disorder in which abnormalities of red blood cell structural protein, globin protein, or enzyme defect lead to shortened life span. There has been much progress in revealing its pathophysiology and genetic backgrounds, but the lifelong plans for caring these patients are not well established yet. All patients with hereditary hemolytic anemic have three common problems: transfusion dependency, iron overload and iron chelation therapy. Patients with hereditary spherocytosis (HS) usually manifest severe anemia in neonatal period and infancy, but transfusion requirements may decrease in adulthood. But patients with thalassemia or sickle cell disease usually transfusion-dependent throughout life. Maintaining the optimal hemoglobin (Hb) levels in these patients is crucial because correction of anemia and dilution of abnormal Hb helps prevent certain complications that frequently occur in these patients. Frequent transfusion leads to transfusion-mediated infection and hemochromatosis. Iron chelation therapy should be started early to prevent permanent organ damage. Folate therapy can be helpful in patients with hereditary spherocytosis. Regular evaluations for cholestasis should be started at age 5, and splenectomy with concurrent cholecystectomy can be considered if the patient has cholecystitis. Hydroxyurea can be used to reduce transfusion requirements and prevent complications in patients with-thalassemia and sickle cell disease. Consensus on long-term management of patients with hereditary hemolytic anemia is lacking, especially for adult patients. But further efforts to build guidelines for long-term follow-up and management of the patients with hereditary hemolytic anemia in the context of Korean society are needed.