Hematopoietic stem cell transplantation (HSCT) is the only curative option available for patients with thalassemia major in India with increasing access to alternate donor transplantation for patients with no matched family donor. We aimed to analyze the impact of family and alternate donor HSCT on morbidity and mortality post-HSCT. We conducted a retrospective study in the department between July 2007 and December 2018 where all children who underwent HSCT for thalassemia major were included. A total of 264 children were included with a median age of 6 years (male/female, 1.4:1). The graft source was matched related donor (MRD) (76%; parent 15%, sibling 85%) and matched unrelated donor (MUD) (22%). All children received a myeloablative conditioning regimen with treosulfan/thiotepa/fludarabine in 93% and busulfan/cyclophosphamide in 7%. The source of stem cells was peripheral blood in 61%, bone marrow in 38%, and umbilical cord blood in 3%. The incidence of bacteremia was 14% versus 25% in MRD versus MUD groups. There was a higher incidence of posterior reversible encephalopathy syndrome (PRES) in the MUD group (10% versus 3%). Engraftment occurred in 97% with a higher trend toward mixed chimerism in the MRD group (12% versus 2%). When indicated, whole-blood donor lymphocyte infusion was used to ensure complete chimerism in children in the MRD group. A statistically significant difference was found in the incidence of graft versus host disease (GVHD), both acute and chronic between the MUD versus MRD groups, 60% versus 20% and 41% versus 17%, respectively (P = .001). Similarly, immune cytopenia and cytomegalovirus reactivation were also significantly higher in the MUD group, 27% versus 1.4% and 25% versus 2%, respectively (P = .001). Thalassemia-free survival in our cohort was 96%, 94%, and 84% with a median follow-up of 65 months in the matched sibling donor, matched family donor, and MUD groups, respectively. Overall survival of 95% and 90% with a median follow-up of 65 months was noted in those who underwent transplantation less than and greater than 7 years of age, respectively. MUD transplantation for patients with thalassemia major involves specific challenges such as PRES and unusual manifestations of GVHD such as immune cytopenia. Early interventions to optimize supportive care and measures to reduce GVHD are required to ensure survival rates of over 90%.

造血干细胞移植（HSCT）是印度重症地中海贫血患者唯一可用的治疗选择，对于没有匹配家庭供体的患者，替代供体移植的机会也越来越多。我们旨在分析家庭和替代供者HSCT对HSCT后发病率和死亡率的影响。我们在2007年7月至2018年12月期间在该科室进行了一项回顾性研究，其中包括所有因重度地中海贫血接受HSCT治疗的儿童。总共包括264名儿童，中位年龄为6岁（男/女，1.4：1）。移植物来源是相配的相关供体（MRD）（76％；亲本15％，兄弟姐妹85％）和相配的不相关供体（MUD）（22％）。所有儿童均接受了清髓调理方案，其中93％的为硫代硫丹/硫替太帕/氟达拉滨，7％的为白消安/环磷酰胺。干细胞的来源是61％的外周血，38％的骨髓和3％的脐带血。MRD组和MUD组的菌血症发生率分别为14％和25％。MUD组的后可逆性脑病综合征（PRES）发生率更高（10％对3％）。在MRD组中，有97％发生了移入，并趋向于混合嵌合体（12％对2％）。指示时，使用全血供体淋巴细胞输注以确保MRD组儿童完全嵌合。在MUD和MRD组之间的急性和慢性移植物抗宿主病（GVHD）的发生率上有统计学意义的差异，分别为60％对20％和41％对17％（MRD组和MUD组的菌血症发生率分别为14％和25％。MUD组的后可逆性脑病综合征（PRES）发生率更高（10％对3％）。在MRD组中，有97％发生了移入，并趋向于混合嵌合体（12％对2％）。指示时，使用全血供体淋巴细胞输注以确保MRD组儿童完全嵌合。在MUD和MRD组之间的急性和慢性移植物抗宿主病（GVHD）的发生率上有统计学意义的差异，分别为60％对20％和41％对17％（MRD组和MUD组的菌血症发生率分别为14％和25％。MUD组的后可逆性脑病综合征（PRES）发生率较高（10％比3％）。在MRD组中，有97％发生了移入，并趋向于混合嵌合体（12％对2％）。指示时，使用全血供体淋巴细胞输注以确保MRD组儿童完全嵌合。在MUD和MRD组之间的急性和慢性移植物抗宿主病（GVHD）的发生率上有统计学意义的差异，分别为60％对20％和41％对17％（在MRD组中，有97％发生了移入，并趋向于混合嵌合体（12％对2％）。指示时，使用全血供体淋巴细胞输注以确保MRD组儿童完全嵌合。在MUD和MRD组之间的急性和慢性移植物抗宿主病（GVHD）的发生率上有统计学意义的差异，分别为60％对20％和41％对17％（在MRD组中，有97％发生了移入，并趋向于混合嵌合体（12％对2％）。指示时，使用全血供体淋巴细胞输注以确保MRD组儿童完全嵌合。在MUD和MRD组之间的急性和慢性移植物抗宿主病（GVHD）的发生率上有统计学意义的差异，分别为60％对20％和41％对17％（P  = 0.001）。同样，MUD组的免疫性血细胞减少症和巨细胞病毒再激活率也显着更高，分别为27％对1.4％和25％对2％（P = .001）。我们的队列中无地中海贫血的存活率分别为配对的同胞供体，配对的家庭供体和MUD组的96％，94％和84％，中位随访时间为65个月。移植年龄小于和大于7岁的患者的总生存率分别为95％和90％，中位随访时间为65个月。重度地中海贫血患者的MUD移植涉及特定挑战，例如PRES和GVHD的异常表现，例如免疫性血细胞减少症。需要尽早采取干预措施以优化支持治疗并采取措施降低GVHD，以确保90％以上的生存率。