Pediatr Blood Cancer 2012;58:611–615 Bone Marrow Transplant Options and Preferences in a Sickle Cell Anemia Cohort on Chronic Transfusions Eileen N. Hansbury, PA-C, 1 William H. Schultz, MHS, PA-C, 1 Russell E. Ware, MD, PhD, 1 and Banu Aygun, MD 2 * INTRODUCTION Hematopoietic stem cell transplantation (HSCT), or more commonly referred to as bone marrow transplantation (BMT), from a human leukocyte antigen (HLA)-matched sibling donor can be curative for patients with sickle cell anemia (SCA). Using sibling matched bone marrow, peripheral blood, or umbilical cord blood as the stem cell source, transplantation for SCA leads to approximately 85% disease-free survival with 5–10% transplant- related mortality and graft rejection [1–3]. Accepted clinical indi- cations for BMT in SCA typically include patients in the pediatric age group with severe morbidity including stroke, severe or pro- gressive intracranial vasculopathy, severe recurrent vaso-occlusive episodes (VOE), or evidence of other severe organ disease. Potential transplant recipients must otherwise be well enough to tolerate the risks of toxicity associated with BMT. A recent search on the www.ClinicalTrials.gov website (accessed on March 2011) documented 16 open clinical trials recruiting for BMT in SCA, almost all of which included an eligibility list of clinical indica- tions featuring both severe acute events and chronic organ damage. Although BMT represents curative therapy for SCA, to date relatively few patients have undergone this procedure. Since the first reported successful case almost 30 years ago [4], fewer than 500 procedures worldwide have been documented in the medical literature [1,5–7] despite over 50,000 affected persons with SCA in the United States [8] and an annual global birth rate of over 300,000 per year [9]. There are multiple reasons for this low number of transplant procedures, but the primary reason is the enormous lack of resources and availability for most patients worldwide particularly in developing countries. However, in developed countries with numerous medical institutions capable of performing BMT for SCA, the limitations are less clear. Potential limitations include (1) lack of available or suitable donors [10,11]; (2) marginal or even unfavorable risk/benefit ratio for children who do not have an immediately life-threatening condition [12]; (3) equivocal recommendations by familiar and trusted healthcare providers, especially primary hematology teams [10,13]; and (4) limited education leading to poor under- standing and acceptance among patients and families. While all four are important, the last point is relatively unexplored in SCA. Parents and families appear to accept the risks of BMT when asked in theoretical terms [10], but rarely choose this therapeutic option when faced with the reality of their own child with clinical severity [14]. The purpose of this study was to explore the interest and acceptability of BMT as a curative option for young patients with clinically severe SCA. Recognizing that in many cases, children eligible for BMT based on clinical severity receive periodic or regular transfusions, we analyzed a large cohort of children with SCA receiving chronic transfusion therapy. We examined the preferences of families with full siblings regarding their decision on whether or not to proceed with HLA typing followed by the decision whether or not to move forward with the BMT procedure. METHODS Patient Cohort We discussed the potential option of undergoing a curative BMT with the families of a large cohort of children who had SCA and were receiving chronic transfusion therapy between July 2004 and January 2011 at St. Jude Children’s Research Hospital. The discussions were held as part of routine clinical care visits. Then, with local IRB approval, we retrospectively reviewed the medical records of these patients. Background. Bone marrow transplantation (BMT) using human leukocyte antigen (HLA)-matched sibling donors can be curative for children with sickle cell anemia (SCA). However, minimal data exist regarding availability of HLA-identical matched siblings for transplant-eligible children, and family interest in pursuing trans- plantation. Methods. We retrospectively analyzed a pediatric SCA cohort receiving chronic transfusions between July 2004 and January 2011. Data were analyzed regarding the number of full siblings and half-siblings, availability, and family interest in HLA testing the full siblings, and interest in proceeding with HLA- matched transplantation. Results. Among 113 patients, 46 (41%) had at least 1 full sibling and 40 (35%) had an unaffected full sibling who could serve as a BMT donor. The families of 23 of these patients (58%) agreed to HLA-type sibling, 8 of whom (35%) were matched. Transfusion indications for families agreeing to HLA typing included stroke (46%) abnormal TCD (29%), acute chest syndrome (21%), and other CNS reasons (4%). Common reasons to decline HLA typing or transplantation included fear of the process, toxicities of the procedure, and comfort with current quality of life on transfusions. Only 8 of 113 (7%) were eligible for matched BMT, and only 3 (3%) underwent HLA-matched transplan- tation. Two unmatched children received haploidentical transplan- tation. Conclusions. Most families of children with SCA on chronic transfusions choose to proceed with HLA typing. However, when a matched sibling was identified, most families declined to proceed with matched-sibling transplantation. Discussing BMT as a treat- ment option, offering HLA typing and identifying barriers may improve acceptance of this treatment modality. Pediatr Blood Cancer 2012;58:611–615. ß 2011 Wiley Periodicals, Inc. Key words: decision-making; sickle cell; transplantation 1 Baylor College of Medicine, Houston, Texas; 2 St. Jude Children’s Research Hospital, Memphis, Tennessee Conflict of interest: Nothing to declare. *Correspondence to: Banu Aygun, MD, Department of Hematology, MS 800, St. Jude Children’s Research Hospital, Memphis, TN 38105. E-mail: banu.aygun@stjude.org Received 3 May 2011; Accepted 13 July 2011 ß 2011 Wiley Periodicals, Inc. DOI 10.1002/pbc.23304 Published online 16 August 2011 in Wiley Online Library (wileyonlinelibrary.com).