骨髓移植治疗重型β地中海贫血(附2例报告)

Bone marrow transplantation for β-thalassemia major: report of 2 cases

目的探讨骨髓移植治疗重型地中海贫血的可行性。方法２例４和４．５岁男性患儿，经地贫基因检查确诊为重型 β地中海贫血，分别移植其胞兄的骨髓 ８５０和 ４７５ｍｌ。两例 ＨＬＡ－ＤＲ位点均有一个不合，血型均相同；用白消安、环磷 酰胺、抗人胸腺免疫球蛋白（ＡＴＧ）预处理，例２未用ＡＴＧ；环孢Ａ和粒系集落刺激因子预防移植物抗宿主病。结果２例 白细胞数大于１．０Ｘ１０９／Ｌ的时间分别为移植后第１４天和第１７天，红细胞数大于４．ＳＸ１０９／Ｌ的时间分别为移植后第１８ 天和第 ２７天，例 １因更昔洛韦影响白细胞曾一度下降， ３个月后恢复正常； ２例血小板和 Ｈｂ术后均恢复正常，最后一 次输血时间分别为移植后第１０３天和第１８天。移植后例Ⅰ出现Ⅱ度急性ＧＶＨＤ和巨细胞病毒性间质性肺炎，获治愈。 两例移植后至今均无需输血，Ｈｂ持续１００ｇ／Ｌ以上，地贫基因均已转为供者型。结论骨髓造血于细胞移植可根治重型 β地中海贫血。更昔洛韦治疗移植后巨细胞病毒感染间质性肺炎用量要准确，疗程要足够。

Objective To investigate the feasibility of bone marrow hematopoietic stem cell transplantation in treating β-thalassemia major. Methods Diagnosis of β-thalassemia major were confirmed in 2 boys aged 4 and 4.5 years respectively by gene mutation of CD41-42/654 and 654/654. A total of 850 and 475 ml bone marrow donated respectively by their brothers was transplanted. In both cases mismatch of HLA-DR at 1 site was identified. while red blood cell type was matched. Pretransplantation conditioning was administered using BU, CY and ATG, but ATG was omital in case 2, and CsA and were used to prevent graft versus host disease (GVHD). Results WBC count reached l.0x109/L on day 14 and 17 after transplantation. and RBC count reached 4.5xl09/L on day 18 and 27 respectively in the 2 cases. WBC was transiently in case 1 as a result of Ganciclovir administrations The platelet exceeded 50x109/L on day 86 and 16, recovering the normal level 5.5 and 1 months after transplantation. Hb reached 100 g/L on day 128 and 20. The last blood transfusion was received on day 103 and 18 respectively, and the episodes of grade Ⅱ acute GVHD and cytomaglovirus (CMV) interstitial pneumonia after transplantation was managed by Ganciclovir in case 1. The 2 patients survived without blood infusion with Hb over 100 g/L The genotypes in 2 cases were converted to the donor's after treatment Conclusions It is possible to cure β-thalassemia major by bone marrow stem cell transplantation, For the treatment of CMV interstitial pneumonia subsequent to transplantation. Ganciclovir should be used with optimized dose and sufficient length of treatment course.