Survival and late effects of hematopoietic cell transplantation in patients with thalassemia major

Abstract

In this retrospective study, we evaluated long-term survival and late effects in 137 patients affected by thalassemia major (TM) who received an allogeneic hematopoietic cell transplantation (HCT). Median age at HCT was 10.1 years. After a median follow-up of 30 years, 114 (83.2%) patients are living and 108 (78.8%) are cured. The cumulative incidence of nonrelapse mortality and thalassemia recurrence was 9.5% at 1 year and 10.2% at 39 years respectively. The 39-years cumulative incidence of overall survival and disease-free survival were 81.4% and 74.5%. One hundred twenty-three patients who survived more than 2 years after HCT were evaluated for late effects concerning hematological disorders, iron burden, growth, obesity, diabetes mellitus, thyroid and gonadal function, eye, heart, liver, lung, kidney, gastrointestinal, neurologic and psychiatric system, osteoarticular system, secondary solid cancer (SSC), performance status, and Covid-19 infection. Fertility was preserved in 21 males whose partners delivered 34 neonates and 25 females who delivered 26 neonates. Fifteen cases of SSC were diagnosed for a 39-year cumulative incidence of 16.4%. HCT represents a definitive cure for the majority of TM patients at the price, however, of a non-negligible early and late mortality which in the long run affects survival and disease-free survival.

Secondary Malignancies in Patients after Allogeneic Hematopoietic Cell Transplantation at Triple the Incidence of Malignancies in Their Family Donors

“…A particular mention must be reserved to the finding of an ever-increasing incidence of secondary malignancies in patients affected by thalassemia major. The data found in the present study (17 cases in 137 patients for a cumulative incidence of 21.7%), confirms and extends what we have previously reported in two other studies [19,20]. The incidence of malignancies in the cohort of family donors (13 cases in 761 donors, 1.7%) was apparently similar to that described by Pulsipher et al (26 cases in 2408 PB donors, 1.1%) [21].…”

Good engraftment after reduced intensity targeted busulfan‐based conditioning and matched related donor hematopoietic cell transplantation in hemoglobinopathies

“…Overall survival and event‐free survival exceeded the short‐ and long‐term outcomes reported by other authors, along with the low rate of complications in patients with TDT 10,21,22,24,38 . Very few studies had a comparable or longer follow‐up period 51 than in our report.…”

Case report: Curing a rare, unstable hemoglobin variant Hb Bristol-Alesha using haploidentical hematopoietic stem cell transplantation

“…A retrospective follow-up study evaluated the long-term outcomes in 137 patients with TM who underwent allogeneic HSCT. The 39-year OS and disease-free survival rates were 81.4% and 74.5%, respectively, indicating a definitive cure for the majority of patients (33). For those lacking HLA-matched sibling donors or unrelated donors, HLA-haploidentical donors (in pediatrics, in most cases a parent) are increasingly considered and used (34).…”