Baylor College of Medicine, Houston, Texas, USA.
Pediatr Blood Cancer. 2012 Apr;58(4):611-5. doi: 10.1002/pbc.23304.
Bone marrow transplantation (BMT) using human leukocyte antigen (HLA)-matched sibling donors can be curative for children with sickle cell anemia (SCA). However, minimal data exist regarding availability of HLA-identical matched siblings for transplant-eligible children, and family interest in pursuing transplantation.
We retrospectively analyzed a pediatric SCA cohort receiving chronic transfusions between July 2004 and January 2011. Data were analyzed regarding the number of full siblings and half-siblings, availability, and family interest in HLA testing the full siblings, and interest in proceeding with HLAmatched transplantation.
Among 113 patients, 46 (41%) had at least 1 full sibling and 40 (35%) had an unaffected full sibling who could serve as a BMT donor. The families of 23 of these patients (58%) agreed to HLA-type sibling, 8 of whom (35%) were matched. Transfusion indications for families agreeing to HLA typing included stroke (46%) abnormal TCD (29%), acute chest syndrome (21%), and other CNS reasons (4%). Common reasons to decline HLA typing or transplantation included fear of the process, toxicities of the procedure, and comfort with current quality of life on transfusions. Only 8 of 113 (7%) were eligible for matched BMT, and only 3 (3%) underwent HLA-matched transplantation. Two unmatched children received haploidentical transplantation.
Most families of children with SCA on chronic transfusions choose to proceed with HLA typing. However, when a matched sibling was identified, most families declined to proceed with matched-sibling transplantation. Discussing BMT as a treatment option, offering HLA typing and identifying barriers may improve acceptance of this treatment modality.
利用人类白细胞抗原（HLA）匹配的同胞供者进行骨髓移植（BMT）可以治愈镰状细胞贫血（SCA）患儿。然而，关于适合移植的儿童可获得 HLA 完全匹配的同胞供者的数量以及家属对进行移植的兴趣，相关数据很少。
我们回顾性分析了 2004 年 7 月至 2011 年 1 月期间接受慢性输血的一组儿科 SCA 患者。对同胞的数量、可用性以及家属对 HLA 检测同胞供者的兴趣和进行 HLA 匹配移植的兴趣进行了数据分析。
在 113 名患者中，46 名（41%）至少有 1 个同胞兄弟，40 名（35%）有未受影响的同胞兄弟，可以作为 BMT 供者。在这些患者中，有 23 个家庭（58%）同意进行 HLA 型同胞检测，其中 8 个家庭（35%）配型成功。同意 HLA 检测的家庭进行输血的指征包括中风（46%）、异常 TCD（29%）、急性胸部综合征（21%）和其他 CNS 原因（4%）。拒绝 HLA 检测或移植的常见原因包括对该过程的恐惧、该程序的毒性以及对输血时目前生活质量的舒适感。在 113 名患者中，仅有 8 名（7%）符合匹配 BMT 的条件，仅有 3 名（3%）接受了 HLA 匹配移植。2 名非匹配儿童接受了半相合移植。
大多数接受慢性输血的 SCA 患儿的家属选择进行 HLA 检测。然而，当确定有匹配的同胞供者时，大多数家庭拒绝进行同胞供者移植。讨论 BMT 作为一种治疗选择，提供 HLA 检测并识别障碍，可能会提高对这种治疗方式的接受度。
