Abstract
Background
Pre-transplant infectious diseases screening is an essential component of the pre-transplant workup. Many centres that offer allogeneic hematopoietic stem cell transplantation ...(HSCT) routinely screen for human T-lymphotropic virus (HTLV) in all recipients in the pre-transplant setting. The aim of this single centre retrospective chart review was to assess pre-transplant HTLV screening rates in allogeneic HSCT recipients at our institution in Melbourne, Australia and determine the prevalence of HTLV in this cohort.
Methods
Patients who received an allogeneic HSCT between 1st January 2018 and 31st December 2022 were identified from an institutional database. Patients who received a second HSCT during the study period were excluded from this analysis. Demographic and clinical data were extracted from electronic medical records. Descriptive analysis of the patient cohort was conducted. Data on the number and outcome of HTLV screening tests performed in this cohort between 1st January 2017 and 31st December 2022 were collated in order to determine the rate of pre-transplant HTLV screening and prevalence of HTLV in this cohort.
Results
Over the study period 116 patients received an allogeneic HSCT at our institution. Of these, 110 were included in this analysis. 67 (60.9%) were male and 43 (39.1%) were female. The mean age at time of transplant (D0) was 51.0 years. Eight (7.3%) patients received haploidentical transplants, 20 (18.2%) received matched unrelated donor transplants, 44 (40.0%) received sibling transplants and 38 (34.5%) received unrelated donor transplants. 158 pre-transplant HTLV screening tests were performed on included patients over the study period. 75 (68.2%) patients had one pre-transplant HTLV test, 25 (22.7%) had two pre-transplant HTLV tests, seven (6.4%) had three pre-transplant HTLV tests and three (2.7%) had four pre-transplant HTLV tests. All HTLV tests included in this analysis were non-reactive on enzyme immunoassay screening.
Conclusion
All patients included in this study had at least one pre-transplant HTLV screening test over the study period. There were no cases of HTLV detected in this cohort. Further research is required on the utility and cost effectiveness of routine pre-transplant HTLV screening in transplant recipients in non-endemic areas.
Disclosures
All Authors: No reported disclosures
Diamond-Blackfan anemia (DBA) is a rare pure red-cell hypoplasia of unknown etiology and pathogenesis. A major DBA locus has previously been localized to chromosome 19q13.2. Samples from additional ...families have been collected to identify key recombinations, microdeletions, and the possibility of heterogeneity for the disorder. In total, 29 multiplex DBA families and 50 families that comprise sporadic DBA cases have been analyzed with polymorphic 19q13 markers, including a newly identified short-tandem repeat in the critical gene region. The results from DNA analysis of 29 multiplex families revealed that 26 of these were consistent with a DBA gene on 19q localized to within a 4.1-cM interval restricted by loci D19S200 and D19S178; however, in three multiplex families, the DBA candidate region on 19q13 was excluded from the segregation of marker alleles. Our results suggest genetic heterogeneity for DBA, and we show that a gene region on chromosome 19q segregates with the disease in the majority of familial cases. Among the 50 families comprising sporadic DBA cases, we identified two novel and overlapping microdeletions on chromosome 19q13. In combination, the three known microdeletions associated with DBA restrict the critical gene region to ∼1 Mb. The results indicate that a proportion of sporadic DBA cases are caused by deletions in the 19q13 region.
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