We reviewed the evidence about the effect and safety of different types of allogeneic stem cell transplantation in people with severe transfusion-dependant ß-thalassaemia major or ß0/+-thalassaemia variants requiring chronic blood transfusion.
Thalassaemia is a blood disorder passed down through families (inherited) in which the body is unable to make adequate amount of normal haemoglobin (the protein in red blood cells that carries oxygen). The disorder results in excessive destruction of red blood cells, which, without blood transfusions, leads to anaemia and causes significant mortality and morbidity. The anaemia can be treated effectively with regular blood transfusions. However, these lead to the accumulation of iron, which, unless treated with regular iron chelation, causes multiorgan disease and early death. Although ß-thalassaemia major responds to this conventional treatment to correct haemoglobin status, the treatment does not provide a cure. The use of hematopoietic (blood-forming) stem cell transplantation involves replacing the unhealthy hematopoietic stem cells with normal hematopoietic stem cells from a healthy donor. These stem cells then produce normal red blood cells containing normal amounts of globin chains. Stem cells can be derived from either the bone marrow or blood (umbilical cord blood or peripheral blood) of a healthy individual.
The evidence is current to: 18 August 2016.
The review authors did not find any randomised controlled trials assessing the effectiveness and safety of different types of stem cell transplantation in people with severe transfusion-dependant ß-thalassaemia major or ß0/+- thalassaemia variants requiring chronic blood transfusion.
We were unable to identify any randomised controlled trials or quasi-randomised controlled trials on the effectiveness and safety of different types of allogeneic stem cell transplantation in people with severe transfusion-dependant ß-thalassaemia major or ß0/+- thalassaemia variants requiring chronic blood transfusion. The absence of high-level evidence for the effectiveness of these interventions emphasises the need for well-designed, adequately-powered, randomised controlled clinical trials.
Thalassemia is an inherited autosomal recessive blood disorder, caused by mutations in globin genes or their regulatory regions. This results in a reduced rate of synthesis of one of the globin chains that make up haemoglobin. In ß-thalassaemia major there is an underproduction of ß-globin chains combined with excess of free α-globin chains. The excess free α-globin chains precipitate in red blood cells, leading to their destruction (haemolysis) and ineffective erythropoiesis. The conventional approach to treatment is based on the correction of haemoglobin status through regular blood transfusions and iron chelation therapy for iron overload. Although conventional treatment has the capacity to improve the quality of life of people with ß-thalassaemia major, allogeneic hematopoietic stem cell transplantation is the only currently available procedure which has the curative potential. This is an update of a previously published Cochrane Review.
To evaluate the effectiveness and safety of different types of allogeneic hematopoietic stem cell transplantation, in people with severe transfusion-dependant ß-thalassaemia major, ß-thalassaemia intermedia or ß0/+- thalassaemia variants requiring chronic blood transfusion.
We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Haemoglobinopathies Trials Register comprising references identified from comprehensive electronic database searches and handsearches of relevant journals and abstract books of conference proceedings.
Date of the most recent search: 18 August 2016.
Randomised controlled trials and quasi-randomised controlled trials comparing allogeneic hematopoietic stem cell transplantation with each other or with standard therapy (regular transfusion and chelation regimen).
Two review authors independently screened studies and had planned to extract data and assess risk of bias using standard Cochrane methodologies but no studies were identified for inclusion.
No relevant studies were retrieved after a comprehensive search of the literature.