Singer Sylvia T, Kuypers Frans A, Olivieri Nancy F, Weatherall David J, Mignacca Robert, Coates Thomas D, Davies Sally, Sweeters Nancy, Vichinsky Elliott P
Children's Hospital & Research Center at Oakland, 747 52nd St., Oakland, CA 94609, USA.
Ann N Y Acad Sci. 2005;1054:250-6. doi: 10.1196/annals.1345.031.
Patients with hemoglobin E (Hb E)-beta 0-thalassemia, one of the most common hemoglobinopathies worldwide, could benefit from drugs that increase fetal and total hemoglobin levels and thereby decrease the need for transfusions. The long-term clinical outcome of such therapy, its hematologic effects, and which patients are likely to benefit from treatment are unknown. Consequently, the use of such drugs for Hb E-beta 0-thalassemia is limited, and countries where resources for safe and regular transfusion are scarce cannot benefit from them. In a multicenter trial of 42 patients treated with hydroxyurea for two years, almost half the patients demonstrated a significant increase in steady-state hemoglobin level. Drug toxicity was minimal. Combined treatment of hydroxyurea with erythropoietin benefited selected patients, but the addition of sodium phenyl butyrate was ineffective. After 5 years of follow-up, a subset of patients remained off transfusions. Hydroxyurea should be considered for a subset of Hb E-beta 0-thalassemia patients.
血红蛋白E（Hb E）-β0地中海贫血是全球最常见的血红蛋白病之一，此类患者可受益于能提高胎儿血红蛋白和总血红蛋白水平、从而减少输血需求的药物。这种治疗的长期临床结果、血液学效应以及哪些患者可能从治疗中获益尚不清楚。因此，此类药物在Hb E-β0地中海贫血治疗中的应用有限，在安全和定期输血资源稀缺的国家无法从中受益。在一项针对42例患者使用羟基脲进行为期两年治疗的多中心试验中，近半数患者的稳态血红蛋白水平显著升高。药物毒性极小。羟基脲与促红细胞生成素联合治疗使部分患者受益，但添加苯丁酸钠无效。经过5年随访，一部分患者不再需要输血。对于一部分Hb E-β0地中海贫血患者应考虑使用羟基脲。
