SummaryThis study aimed to demonstrate the validity, reliability and responsiveness of a new disease-specific quality of life (QoL) questionnaire for children and adults with thalassaemia major, the Transfusion-dependent QoL questionnaire (TranQol). 106 participants (51 adults and 55 children) were recruited from six North American thalassaemia treatment centres with a mean age of 20Á7 years (standard deviation [SD] 9, range 7-51 years). The mean total TranQol score was 71 (SD 17, 32-97) on a scale of 0-100. Patients with co-morbidities had significantly lower scores (63 vs. 75, P = 0Á001). TranQol scores showed substantial agreement (P < 0Á001) with the Health Utilities Index Mark 3 (all patients, r = 0Á65), the Pediatric QoL (children, r = 0Á77) and the Short Form (36) physical (adults, r = 0Á69) and mental summary scores (r = 0Á76). In the subgroup who rated their QoL as better, there was a 4Á0 point (SD 9Á0) improvement in TranQol scores, from baseline of 67Á1-71Á1 one week later (P = 0Á008). Test-retest reliability was excellent (intra-class correlation coefficient, 0Á93). The TranQol was valid, with acceptable correlation for all administered measures and was reliable and responsive to change. The TranQol can be incorporated into future studies of thalassaemia major.

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Thalassemia is a congenital blood disorder often requiring chronic blood transfusions and iron chelation therapy [1,2]. While advances in treatment have resulted in increased life expectancy [3], extended life spans have exposed previously unidentified issues, including bodily pain. The aim of this study was to examine the prevalence, severity, predictors, and effects of pain in 265 adults/adolescents and 103 children with thalassemia. Overall, 69% of adults/adolescents reported bodily pain on the SF-36v2 health survey, with 28% reporting at least moderate pain. Parents reported pain in 56% of children using the PF-28 child health questionnaire, with only 11% reporting pain fairly often. There were no significant differences in pain in children with thalassemia compared with the general population. In adults/adolescents, pain increased significantly with age (P = 0.005), more so than in the general population. This study highlights the fact that children and young adults with thalassemia experience pain comparable to the general population, whereas older adults (aged 35+) experience greater pain. Our findings show that increased pain is associated with decreased quality of life and increased anxiety and depression.

Thalassemia is one of the most common causes of inherited anemia worldwide. While significant advances has been made in clinical management of thalassemia patients over the past few decades, our knowledge on the factors affecting the quality of life of thalassemia patients is limited. The "IntercontinThal Study" is a collaborative effort to study the quality of life (QoL) and quality of care of thalassemia patients in populations across diverse social and health care systems. Data presented here are from the three participating centers in Canada, Lebanon and Iran. We have gathered study data through: a) QoL questionnaire SF-36 completed by patients, b) a specifically designed and validated questionnaire completed by patients which addressed patient's social status (marriage/relationship status, education, employment status, and access to social support and health care), and c) review of the patients' charts using a data collection form. This form included: patients' demographics, specifics of transfusion therapy and iron chelation, thalassemia-related and other clinical complications (endocrinopathies, bone disease, cardiac disease, hemolysis-related complications, etc.), tissue iron content (liver and cardiac) and/or serum ferritin within the past three years, and splenectomy status. All study questionnaires were translated into Persian (for Iranian patients) and Arabic (for Lebanese patients). Due to the variety of the clinical complications, all clinical complications were aggregated together for statistical analysis. We used univariate and multivariate regression analysis to study the association of predictors and patients' QoL Mental Component Summary (MCS) Score. Ninety seven patients [46 female, 59 transfusion-dependent beta-thalassemia (TDT) and 38 non-transfusion-dependent beta-thalassemia (NTDT)] were included in the analysis. All patients were older than 18 years of age (Mean 32 years, SD: 7 years). In univariate analysis age, access to social support and health care, marriage status, liver iron concentration and ferritin (strongly correlated with each other), and disease-related complications were found to be predictor of QoL MCS scores. In NTDT patients, splenectomy and lower baseline hemoglobin were also significantly associated with reduced QoL. In multivariate analysis, ferritin and age (and clinical complications in TDT patients) were found to independently be associated with reduced QoL. LIC was not found to be an independent factor likely due to the fewer number of patients who had recent LIC assessments. Of interest, patients with NTDT reported better QoL at younger age compared to TDT patients but there was a trend toward worse QoL at older age. Our results provide a better understanding of the factors that affect the QoL of thalassemia patients and highlights the importance of management of body iron in both TDT and specially in NTDT patients. In addition, it confirms the notion that while NTDT patients may not require regular transfusions based on conventional criteria, they may experience significant reduction in QoL especially at older ages. Further efforts to address the health and QoL of NTDT patients are required to improve the outcomes of this often neglected condition. (Funded by a research grant from the Thalassemia Foundation of Canada) Disclosures Taher: Celgene: Research Funding; Novartis: Honoraria, Research Funding.

ObjectivesWith improved access to intrauterine transfusion (IUT), more fetuses with haemoglobin Bart’s hydrops fetalis (HBHF; homozygous α0-thalassaemia) will survive.DesignTo evaluate the long-term outcomes of affected fetuses with and without IUT in Ontario, Canada, we retrospectively collected data on IUTs and pregnancy outcomes in all cases of HBHF, from 1989 to 2014. Clinical outcome and neurocognitive profiles of long-term survivors were also collected and compared with data from 24 patients with transfusion-dependent β-thalassaemia (TDT-β).ResultsOf the 99 affected pregnancies (93 prenatally diagnosed), 68 resulted in miscarriage or elective termination of pregnancy. Twelve mothers (12%) continued their pregnancies without IUT, and none of those newborns survived the first week of life. All 13 fetuses that received IUT(s) were live-born, but 3 died due to severe hydrops at birth and 1 died due to infection. The remaining nine survivors, in comparison with TDT-β patients, had earlier iron overload requiring iron chelation therapy. Endocrinopathies and short stature were more frequent in these patients. Neurocognitive outcome was not significantly affected in five patients who were assessed, and none were diagnosed with intellectual impairment. In three patients, MRI studies demonstrated brain white matter changes in keeping with ‘silent’ ischaemic infarcts.ConclusionsIn patients with HBHF, IUT is associated with improved survival. While acceptable neurocognitive outcome can be expected, these patients have more clinical complications compared with their TDT-β counterparts. The clinical and neurocognitive outcomes of HBHF should be discussed in detail when counselling and offering IUT for patients.