【摘要】 目的　探讨脐血移植(UCBT)治疗重型β 地中海贫血 (简称β 地贫 )的疗效。方法　用人类白细胞抗原(HLA)全相合或不全相合UCBT治疗重型β 地贫患儿 12例。供受者的有核细胞(3.63~16.0)×107 /kg,CD34+细胞(0 11~1 03)×106 /kg,粒 巨噬细胞集落形成单位 (0.17~1.18)×105 /kg。移植的预处理方案:HLA全相合的患儿采用马利兰+环磷酰胺+抗胸腺细胞球蛋白方案;HLA2个位点不全相合者采用高剂量输血+连续静脉滴注去铁胺+羟基脲+氟达拉宾+马利兰+环磷酰胺+抗胸腺细胞球蛋白方案。结果　10例患儿获得植入,其中 7例为长期稳定植入, 3例植入后发生排斥; 2例未能植入。获得植入的 10例患儿均发生急性移植物抗宿主病 (aGVHD),其中Ⅰ度aGVHD7例,Ⅱ度aGVHD3例。脱离地贫状态生存 7例,血红蛋白始终维持正常。3例恢复地贫状态。2例未获植入的患儿 1例发生移植后再生障碍性贫血, 1例死于严重感染。结论　UCBT是目前β 地贫最有效的治疗手段。更多还原

【Abstract】 Objective The β-thalassemia major is a common hereditary hematology disease in southern China. The combination of blood transfusion and iron chelation is now the reference treatment. The allogeneic hematopoietic stem cell transplantation is the only curative therapy for β-thalassemia major. In this study the investigators observed and evaluated the effects of umbilical cord blood transplantation （UCBT） for patients with β-thalassemia major. Methods Twelve cases of β-thalassemia major aged from 1.3 to 8.3 years （8 male and 4 female） received UCBT. Eleven of the twelve donors were siblings and one was unrelative. Eight patients received no antigen and four patients received two antigen disparate grafts. According to the Pesaro′s classification for thalassemia, 10 patients were at grade Ⅰ or Ⅱ, and 2 were at grade Ⅲ. The HLA-identical patients accepted the conditioning regimen consisting of busulfan, cyclophosphamide and antithymocyteglobulin. The HLA-mismatched patients accepted the conditioning regimen consisting of hypertransfusions, continuous iv desferrioxamine, hydroxyurea, fludarabine, busulfan, cyclophosphamide and antithymocyteglobulin. The harvest stem cells contained 3.63-16.0×10⁷/kg of nucleated cells,0.11-1.03×10⁶/kg of CD⁺₃₄ cells and 0.17-1.18 ×10⁵/kg of colony- forming-unit-granulocyte macrophages. Cyclosporine alone or in combination with mycophenolate mofetil （MMF） was given for acute graft-versus-host disease （aGVHD） prophylaxis. Results Of the 12 patients, 10 were engrafted. Ten patients had neutrophil recovery （>0.5×10⁹/L） and seven patients had platelet recovery （>50×10⁹/L）. The median time was 18.1 and 57.3 days, respectively. Seven patients had disease-free survival （DFS） at a median follow up of 23 months （range 4-63 months）. Three patients had rejection and autologous hematopoitic reconstitution. Two patients were not engrafted. One patient acquired severe aplastic anemia, another patient died of severe infection. The incidences of grade Ⅰ and grade Ⅱ aGVHD were 60% （6/10） and 40% （4/10）, respectively. There were no long-term complications in the disease free survivors. Conclusions Grade Ⅰ-Ⅱ β-thalassemia major patients receiving sibling UCBT had high DFS. UCBT is an effective way to treat β-thalassemia major.更多还原