Sickle Cell Disease and Thalassemia
Sickle cell disease (SCD) occurs in approximately 1 in 500 African-American infants born in the United States. Furthermore, an estimated 1,000 individuals in the U.S. have beta thalassemia major, the most severe form of thalassemia and the only form for which transplant is indicated. [1,2]
These hemoglobinopathies are primarily found in individuals with African, Mediterranean, South American, Southeast Asian, and Middle Eastern lineages. SCD leads to lifelong morbidity and reduced life expectancy through end-organ damage. Beta thalassemia major (also called Cooley's anemia) is the most severe form of thalassemia, and requires regular, often monthly, blood transfusions. It also leads to reduced life expectancy due to end-organ damage.
Although supportive care, drug therapies, and red blood cell transfusions can ease symptoms and extend lifespan, allogeneic hematopoietic cell transplantation (HCT) is the only potential cure for these disorders. [3-7]
Recent research provides new data for clinical decision-making in patients with SCD or thalassemia:
- Related donor HCT for SCD or thalassemia major can yield overall survival of >95% at 6 years 
- Risk stratification based on liver size, liver fibrosis, and chelation history in patients with thalassemia correlates well with HCT outcomes 
- Adult SCD patients with accumulated organ damage may benefit from reduced-intensity conditioning HCT 
In addition, an ongoing multicenter trial may bring new advances. The Sickle Cell Unrelated Transplant (SCURT) study (BMT CTN 0601) is evaluating the role of unrelated donor HCT in treating severe SCD and is enrolling children with a history of severe SCD manifesting as strokes, frequent pain crises, or acute chest syndrome.
Review outcomes for allogeneic transplantation in patients with SCD and thalassemia below. View additional slides showing demographic data and hematopoietic cell transplant trends.
Data in this section have been prepared by CIBMTR® (Center for International Blood and Marrow Transplant Research), our research program.
Figure 1: Pediatric SCD Survival, Unrelated HCT
Figure 2: Thalassemia Survival, Unrelated HCT
Referral Timing Guidelines
These guidelines highlight disease categories that include patients at risk for disease progression and who should be referred for a consultation for hematopoietic cell transplantation. 
Transplant Consultation Guidelines: Hemoglobinopathies
- Sickle Cell Disease
- With aggressive course (end-organ complications, frequent pain crises)
- Transfusion-Dependent Thalassemias
- At diagnosis
View complete Referral Timing Guidelines
- Centers for Disease Control and Prevention: Sickle Cell Disease, Data and Statistics. Access
- Clinical Key: Thalassemia Causes, Diagnosis, and Treatment. Access
- Locatelli F, Kabbara N, Ruggeri A, et al. Outcome of patients with hemoglobinopathies given either cord blood or bone marrow transplantation from an HLA-identical sibling. Blood. 2013; 122(6): 1072-1078. Access
- Mehta PA, Faulkner LB. Hematopoietic cell transplantation for thalassemia: A global perspective. Biol Blood Marrow Transplant. 2013; 19(1 Suppl): S70-S73. Access
- Hsieh MM, Fitzhugh CD, Tisdale JF. Allogeneic hematopoietic stem cell transplantation for sickle cell disease: The time is now. Blood. 2011; 118(5): 1197-1207. Access
- Lucarelli G, Isgrò A, Sodani P, et al. Hematopoietic SCT for the Black African and non-Black African variants of sickle cell anemia. Bone Marrow Transplant. 2014; 49(11): 1376–1381. Access
- Tolar J, Sodani P, Symons H. Alternative donor transplant of benign primary hematologic disorders. Bone Marrow Transplant. 2015; 50(5): 619-627. Access
- NMDP/ASBMT Recommended Timing for Transplant Consultation, 2015. Download (PDF)