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

Unstable hemoglobinopathies are a rare, heterogeneous group of diseases that disrupt the stability of hemoglobin (Hb), leading to chronic hemolysis and anemia. Patients with severe phenotypes often require regular blood transfusions and iron chelation therapy. Although rare, studies have reported that hematopoietic stem cell transplantation (HSCT) seems to be an available curative approach in transfusion-dependent patients with unstable hemoglobinopathies. Here, we describe successful haploidentical HSCT for the treatment of an unstable Hb variant, Hb Bristol-Alesha, in a 6-year-old boy with severe anemia since early childhood. Two years after transplantation, he had a nearly normal hemoglobin level without evidence of hemolysis. DNA analysis showed complete chimerism of the donor cell origin, confirming full engraftment with normal erythropoiesis.

Automated summary

Unstable hemoglobinopathies are rare diseases that disrupt hemoglobin stability, causing chronic hemolysis and anemia. Hematopoietic stem cell transplantation has been reported as a curative approach for transfusion-dependent patients with unstable hemoglobinopathies. This case report describes the successful haploidentical HSCT treatment of Hb Bristol-Alesha variant in a 6-year-old boy with severe anemia. Two years post-transplantation, the patient achieved near normal hemoglobin levels without signs of hemolysis, confirming full engraftment with normal erythropoiesis through DNA analysis.