地贫的治疗与防治冯晓勤__培训课件.pptVIP

什么是造血干细胞 → → 什么是造血干细胞移植 锄地 播种 生长 大剂量放疗或化疗 输入 造血干细胞 移植成功 清除 自体骨髓 白血病细胞 生产正常血细胞 继续清除白血病 → → 0 5 10 15 20 0 0.2 0.4 0.6 0.8 1 Probability 886 HLA IDENTICAL TRANSPLANTS IN THALASSEMIA AGE 1 THROUGH 35 YEARS THALASSEMIA-FREE SURVIVAL YEARS Pesaro 73% 造血干细胞移植 南方医院儿科 中国最大的儿童造血干细胞移植中心 国内每年完成儿童异基因移植例数最多 尤其是造血干细胞移植治疗地中海贫血已达110余例，为国内完成最多、疗效最好的单位。 总生存率：83.6%，无病生存率：77.3% 病人来之全国各地（广东、广西、海南、云南、四川、贵州、湖南、江西、江苏、新疆）及海外（印度、澳门） 人民日报 健康报 羊城晚报 香港大公报 香港文汇报 加拿大明报 OS EFS 三、基因治疗（Gene therapy) 应用药物增加γ基因表达或减少α基因的表达，以改善地中海贫血的贫血症状。 常用化学药物：羟基脲、丁酸盐等 祖国的中医中药 病毒载体介导 地中海贫血病人的饮食 保证充分的营养 减少食物中铁的摄入 含铁高的食物 含铁高的食物 困难与思考 课后思考题： 如何应用自己学到的地中海贫血的知识为我们广东省地中海贫血预防事业作出自己的贡献： What can we do? How can we do? Many thanks ! * Hb is composed of two ?-chains and two ?-chains. HbA (the main and most important form in adults) is composed of four globular protein subunits ( 2 ? and 2 ?) associated with a non-protein heme group. The thalassemias are genetic conditions that stem from mutations in genes which encode these globin chains. These result in errors in the production of the chains. The are two clinically important types, ?- and ?-thalassemia, classified according to the affected (deficient) globin chain and clinical severity. There are four types of ?-thalassemia, which relate to the number of genes encoding the ?-globin chains, and range in severity depending on the number of non-functional genes. In cases of one mutation, the thalassemia will be asymptomatic whereas almost all individuals with homozygous ?-thalassemia are born with hydrops fetalis. There are three main types of ?-thalassemia, which relate to mutations in the ?-globin gene. A heterozygous genotype results in the asymptomatic ?-thalassemia minor condition. A homozygous genotype (for the mutation) results in ?-thalassemia major, which is normally fatal if untreated. * * * In 1970, when adequate transfusion regimens became standard in the UK, iron overload replaced anemia as the commonest cause of death. Iron chelation with sc DFO w