Patient-Parent Reported Quality of Life Assessment Post Hematopoietic Stem Cell Transplant for Sickle Cell Disease: Validation and Clinical Application of Sickle Cell Disease Burden Index

Introduction: Awaiting wider application of gene therapy, hematopoietic stem cell transplantation (HSCT) is only the curative option for Sickle cell disease (SCD). It's a common understanding that HSCT improves the quality of life (QOL) of SCD patients but, only few groups have assessed and subjectively reported changes in QOL post HSCT. After more than a decade of HSCT for SCD, we tried to assess change in burden of sickle cell disease post HSCT by conducting a cross-sectional survey in patients, who underwent HSCT and completed 2 years of follow up. Methodology: A structured questionnaire was developed looking at motor, cognitive, behavioral and sexual health along with the financial burden. A group of experts and parents of patients who underwent HSCT for SCD decided the dimensions of construct and the questionnaire content was validated. The questionnaire was structured in three parts; part I included personal data and part II included questions on six domains including physical health, educational status, family income and employment status, hospital visits, general well-being and part III includes data on relationship, sexual health and impact on siblings, if applicable. Each questionnaire is framed in a positive manner and graded on scale of 1-4 on the Likert scale. For part II, A total of 12 questionnaires was framed with the minimum score of 12 and maximum score of 48. For patients eligible for part III, a total of 8 questions were framed for relationship and sexual health with a minimum score of 8 and maximum score of 32 and post-transplant impact on siblings was assessed by 3 questions, with a minimum score of 3 and maximum score of 12. The questionnaire was sent via email to parents who were given telephonic guidance to fill out the questionnaire. For any part of the questionnaire, a score of more than 50% in that domain was considered as an improvement in QOL. A total of 90 patients were eligible for the study (completed 2 years post HSCT), 81 were sent questionnaire (missing/changed contact details in 9). Out of 81 who were sent the questionnaire, 62 responded with the desired information. Results: The survey included 62 participants with a mean age of 13.2 years (SD = 9.3 years), predominantly male (57%). The mean duration post HSCT was 59 months (range, 24 to 130). Majority (98.3%) were of African origin whereas only one child was Indian. On assessing the questionnaire for part II, mean T (SD) score of questionnaires was 42.5 (2.8). There was no difference in overall mean score between males (mean: 42.12, SD: 2.92 and females mean: 42.24, SD: 2.74 (p- value= 0.87). Forty-three patients did not experience any pain crisis post-transplant; rest 19 had rarely experienced pain crisis post-transplant. Majority (81%; n=50) of patients never visited hospital in past 6 months and rest 12 had visited hospital just once in past 6 months for non-sickle related causes. Fifty-four (87%) patients reported improvement in scholastic performance. Fifty-seven (92%) patients were very hopeful about their future post-transplant. Thirty-five (57%) patients-parents reported increase in the income of family post-transplant. Ten responders were above the age of 18 out of which 5 children were in relationship and sexually active. All of them reported improvement in sexual health and relationship goals. Majority (73%) reported excellent quality of life post-transplant. On assessing the post-transplant impact on sibling, mean T (SD) score of questions was 10.98 (1.9), which suggested improved QOL of sibling as well. Conclusions: Our study highlighted that patient of SCD, post HSCT, experienced improved physical health, improved scholastic performance, decreased hospital visits and were able to pursue personal life goals. Along with the patient, sibling health and family's financial status also improved significantly post HSCT.