3例父子间HLA完全相合家系及1例造血干细胞移植后临床分析

HLA完全相合供者是造血干细胞移植成功的关键因素。父母与子女多数为半相合,两代间HLA完全相合的情况很少见。本室采用PCR-SSP技术对患者及其亲属进行HLA低分辨分型检测。结果在两代间HLA低分辨配型结果中共发现3例父子间完全相合病例,其中1例在本院按单倍型移植预处理方案行造血干细胞移植术,术后造血恢复良好,未发生移植物抗宿主病(GVHD)。术后定期随访嵌合体检测结果均为100%供者型嵌合,融合基因MLL-ENL定量检测结果均为阴性,现已健康生存2年余。结论:子女与其父母HLA完全相合是因为父母间具有1条相同的单倍体,这条相同的单倍体多见于人群中高频且呈显著连锁不平衡单倍型。1例HLA完全相合父供子单倍体造血干细胞移植病例,术后未发生GVHD,且长期健康生存,供临床参考。

Clinical analysis for 3 cases of HLA-matched between father and son and 1 case of post-hematopoietic stem cell transplant efficacy

Getting a HLA-matched donor is a key factor for successful hematopoietic stem cell transplantation. People are almost semi-matched with their parents, while a person HLA-matched with his/her father or mother was rarely seen, if so, usually whose father and mother are genetically related. HLA-low resolution for patients and their relatives were performed using PCR-SSP technique and three patients were found HLA-matched with their father in these results. One of them accepted hematopoietic stem cell transplantation using his HLA-matched father as his donor. The results showed that the chimerism was detected as stable complete donor chimerism, fusing gene of MLL-ENL was detected all negatively in the post-transplant period. This case got well hematopoietic reconstruction and GVHD didn't occur, so far he has survived for two years in health conditioning. It is concluded that people HLA-matched with his/her father or mother can be found when there is one identical haplotype of high frequency and strong linkage disequilibrium between father and mother. This case is valuable for hematopoietic stem cell transplantation development.