Dover G J
Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA.
Ann N Y Acad Sci. 1998 Jun 30;850:80-6. doi: 10.1111/j.1749-6632.1998.tb10465.x.
Homozygous beta thalassemia affects thousands of people around the world. Current management of this condition includes regular transfusion of red cells, which leads to transfusional iron overload requiring chelation therapy: increasing hemoglobin levels while decreasing or eliminating iron overload is therefore a major therapeutic goal in the treatment of thalassemia. Bone marrow transplantation may achieve this goal, but it is not an option for most patients. This study reports on efforts to increase gamma-globin transcription and HbF production using sodium phenylbutyrate (SPB) and hydroxyurea (HU). It was found that 36% (4/11) of all patients or 50% (4/8) of non-transfused patients responded to SPB (increase in Hb levels of 1 g/dL). A positive correlation between baseline serum erythropoietin level and likelihood of response to SPB was observed. Since HU may also increase HbF production, evaluation of combination therapy with these drugs is underway and preliminary results are reported.
纯合子β地中海贫血影响着全球数千人。目前对这种疾病的治疗包括定期输注红细胞，这会导致输血性铁过载，需要进行螯合治疗：因此，提高血红蛋白水平同时降低或消除铁过载是地中海贫血治疗的主要治疗目标。骨髓移植可能实现这一目标，但对大多数患者来说并非一种选择。本研究报告了使用苯丁酸钠（SPB）和羟基脲（HU）来增加γ-珠蛋白转录和HbF生成的研究成果。研究发现，所有患者中有36%（4/11）或未输血患者中有50%（4/8）对SPB有反应（血红蛋白水平升高1 g/dL）。观察到基线血清促红细胞生成素水平与对SPB反应的可能性之间存在正相关。由于HU也可能增加HbF生成，目前正在对这些药物的联合治疗进行评估并报告了初步结果。
