Switch From Beta-Thalassemia Major to Beta-Thalassemia Intermedia After Secondary Graft Failure

Abstract

In this article, we report a switch of β-thalassemia major to intermedia β-thalassemia after allogeneic bone marrow transplant of a 6-year-old girl from her HLA-matched brother.

After stable mixed chimerism, the patient had a secondary graft rejection and returned to total recipient chimerism as assessed by real-time polymerase chain reaction assay. Nonetheless, with a medium hemoglobin rate of 89 g/L, she did not need further transfusions for 60 months after rejection.

We conclude that complete loss of donor cells after bone marrow transplant for β-thalassemia major is compatible with a stable clinical state, probably due to a γ-globin gene demethylation that enhances γ-globin chain production and further allows constitution of a fetal hemoglobin rate compatible with free transfusion survival.