Journal of Blood Medicine最新文献

Purpose: Aplastic Anaemia (AA) is a critical haematological disorder characterized by pancytopenia and marrow hypoplasia. It is generally regarded as a rare disease albeit with multiple symptoms. The aim of the study was to get the patients' perspective to evaluate the disease burden and their knowledge, attitude, practices, and adherence to treatment.

Patients and methods: This qualitative cross-sectional study was conducted at the Parirenyatwa Group of Hospitals in Harare, Zimbabwe, to investigate patients' perspectives on their knowledge, attitudes, practices and disease burden regarding AA.

Results: Eleven participants diagnosed with AA via bone marrow biopsy were recruited between November 2022 and May 2023. A structured, ethically approved questionnaire was used to gather data on demographics, clinical status, treatment experiences, and overall disease knowledge. Results showed that respondents generally possessed a robust understanding of their condition; however, financial constraints significantly hindered access to appropriate treatment options, including potential curative therapies such as hematopoietic stem cell transplantation. Zimbabwean healthcare faces profound challenges, with less than 5% of patients receiving appropriate therapy within the first year of diagnosis.

Conclusion: This study underscores the urgent need for enhanced patient support systems and policies to improve healthcare access for individuals with AA in Zimbabwe. Recommendations include the development of targeted awareness initiatives and supportive resources to elevate the quality of life for patients with aplastic anaemia.

Purpose: Patients with non-severe hemophilia A (PwnSHA) may be at risk for joint damage (JD), yet data remain scarce. Our aim was to evaluate the joint condition in PwnSHA in a real-world setting.

Patients and methods: A nationwide, multicenter, cross-sectional study was conducted. To mitigate the impact of discrepancies between factor VIII (FVIII) assays, baseline FVIII levels were determined using chromogenic and one-step clotting assays. Mutation in F8 gene, baseline FVIII levels, thrombin generation and age were assessed. The joint condition was described using the HEAD-US score by trained specialists at each participating hospital.

Results: One hundred and twenty-four patients were recruited, 84 of them with an available HEAD-US evaluation, who were finally included in our analysis. The median age was 38.4 years (18.3-48.5). Twenty percent (16/84) had moderate hemophilia (MoH) with FVIII levels of 4.0 IU/dL (2.6-4.6), and 80% (68/84) had mild hemophilia (MiH) with FVIII levels of 14.8 IU/dL (10.4-19.9), (p< 0.001). JD (HEAD-US>0) was observed in 50% (8/16) of MoH patients (HEAD-US= 6.5 [5.5-8.5]) and in 40% (27/68) of those with MiH (HEAD-US= 3.0 [2.0-6.5]), p=0.198. In the moderate group, JD was primarily observed in ankles (44%), while in the MiH group, knees were the most affected (31%). MoH patients reported a hypocoagulable thrombin generation profile compared to MiH patients (p<0.05).

Conclusion: Near half of PwnSHA had JD. A worse joint health and a lower thrombin generation was observed in MoH population. These patients can benefit from an early prophylaxis and prevent further joint deterioration. Future research should explore additional variables that might influence joint condition.

Purpose: This study aimed to determine the prevalence of alpha+ thalassemia and its hematological indices in a newborn population in Mwanza city, North-western Tanzania.

Patients and methods: A cross-sectional study screened 803 newborns for alpha+ thalassemia that extracted DNA from dried blood spots using the Qiagen Mini Kit then analysed by multiplex PCR. Demographic data, anemia-related clinical information, and CBC parameters were collected at birth. Prevalence was determined by the proportion of newborns with the alpha+ thalassemia deletion. Fisher's Exact test assessed differences in demographic and clinical variables, while Student's t-tests and ANOVA evaluated hematological parameters. A P-value < 0.05 was considered statistically significant.

Results: Alpha thalassemia was detected in 49.6% (398/803) of neonates, with 38.6% heterozygous and 11.0% homozygous deletions. Significant differences in erythrocyte indices were observed across groups. Hemoglobin (Hb) levels were lower in heterozygous (_α/αα) and homozygous (_α/_α) newborns (16.42±3.62 g/dl and 16.04±3.37 g/dl, respectively) compared to the αα/αα group (17.03±3.35 g/dl, p < 0.05). Mean Corpuscular Volume (MCV) was reduced in heterozygous (_α/αα) and homozygous (_α/_α) groups (99.23±9.12 μm³ and 94.75±9.88 μm³, respectively) compared to αα/αα (102.41±9.56 μm³, p < 0.0001). Mean Corpuscular Hemoglobin (MCH) followed a similar pattern, being lowest in the homozygous group (p ≤ 0.0001). Red Cell Distribution Width (RDW) was higher in homozygous (_α/_α) newborns (10.03±1.22) compared to heterozygous (_α/αα) (9.57±0.79, p < 0.001). Leucocyte counts were significantly higher in heterozygous (_α/αα) newborns (13.91±12.14) compared to homozygous (_α/_α) (12.60±7.91) and αα/αα groups (11.26±9.76, p = 0.001).

Conclusion: Alpha+ thalassemia is highly prevalent in North-western Tanzania and significantly affects blood indices. Neonatal screening is an effective tool for identifying affected children, especially in settings with high prevalence of a trait and low awareness of genetic inheritance.

Background: Due to the absence of a head-to-head trial directly comparing elranatamab and teclistamab in triple-class exposed/refractory multiple myeloma (TCE/R MM), a matching-adjusted indirect treatment comparison (MAIC) was previously conducted. The aim of the current study was to update this prior MAIC with more mature clinical data from both trials.

Methods: The approach of the MAIC remained consistent with the previous study, with the exception of more mature data (28.4 months and 30.4 months of follow-up for elranatamab from MagnetisMM-3 (NCT04649359) and teclistamab from MajesTEC-1 (NCT03145181, NCT04557098), respectively). Individual patient-level data from MagnetisMM-3 (N = 116) were reweighted to match published aggregated data from MajesTEC-1. Variables included for adjustment were age (≥75 years), sex (for OS only), median time since diagnosis, International Staging System disease stage, high-risk cytogenetics, extramedullary disease, number of prior lines of therapy, Eastern Cooperative Oncology Group performance status, and penta-exposed/refractory status. An unanchored MAIC was conducted based on the National Institute for Health and Care Excellence Decision Support Unit 18 example code. A sensitivity analysis was conducted in which missing baseline characteristics data were imputed for elranatamab.

Results: In the base-case analysis, elranatamab was associated with significantly longer PFS (hazard ratio [HR] 0.55 [95% confidence intervals (CI): 0.37, 0.81], p < 0.05), OS (HR [95% CI]: 0.60 [0.40, 0.91], p < 0.05, and DoR 0.56 [0.31, 0.99] p < 0.05) compared with teclistamab. Results were largely consistent in the sensitivity analysis, except that the differences in OS were non-significant. A subgroup analysis of patients with a complete response or better was consistent with the base case.

Conclusion: The results of this updated MAIC of elranatamab and teclistamab in TCE/R MM support the findings of the previous MAIC over a longer-term follow-up, now indicating significantly improved PFS, OS, and DoR with elranatamab versus teclistamab.

Background: Newly diagnosed multiple myeloma (MM) patients with circulating plasma cells (CPC) had worse prognosis, and it was important to investigate the prognostic value of CPC for newly diagnosed MM.

Methods: We retrospectively enrolled 718 patients with newly diagnosed MM and used propensity score matching to reduce the effect of different distributions of prognostic factors on the outcome.

Results: We totally analyzed 718 patients included 103 (14.3%) patients with CPC and 615 (85.7%) patients without CPC. Median overall survival (OS) (35.1 months vs 57.4 months, p <0.001) and progression-free survival (PFS) (17.2 months vs 25.8 months, p =0.002) were significantly shorter in patients with CPC compared with that of patients without CPC. Univariate Cox proportional hazards regression analysis showed that CPC was associated with shorter OS (HR=1.740, 95% CI: 1.293-2.342, p<0.001) and PFS (HR=1.486, 95% CI: 1.149-1.921, p=0.003). However, it was showed that CPC was not an independent poor prognostic factor for OS (p=0.243) and PFS (p=0.228) in multivariable analyses. In the propensity score matching analysis, patients with CPC had similar OS (p=0.309) and PFS (p=0.686) to patients without CPC.

Conclusion: Our study suggested that newly diagnosed MM patients with CPC had poor outcome, but CPC was not an independent poor prognostic factor for patients with newly diagnosed MM.

Studies on high-dose prophylaxis therapy using Factor VIII show promising decrease in the Annual Bleeding Rates (ABR) in hemophilia patients. However, the greater dose and frequency raise concerns on cost considerations and adherence of the patients, especially in several countries where resources are limited. Other data has proven that the low dose prophylaxis is also promising regarding the decrease of ABR. The purpose of this systematic review is to conduct a comprehensive analysis of the lower dosage formulation used for prophylaxis in hemophilia. A PubMed and Embase database search was performed based on articles that met the following criteria: written in English language and published within the last 10 years. Consequently, the following key terms were used in combination: 'high dose', 'low dose', 'recombinant', 'prophylaxis', and 'hemophilia' in different combinations. 19 articles were included for this review. 10 of the investigated papers demonstrated decrease in ABR, functional improvement of affected joints, alleviation of pain, and a better quality of life in hemophilia patients. Low dose prophylaxis has proven to significantly improve symptoms, lower ABR and preserve joint and bone health compared to episodic or on-demand treatment. Furthermore, low dose prophylaxis (LDP) was also observed to be cost-effective and more convenient in certain countries, especially in south-east Asia where resources are limited. Overall, low dose prophylaxis appears to be non-inferior in improving the overall Quality of Life in people with hemophilia, and therefore could be a beneficial alternative in countries of the south east Asian region.

Interdigitating dendritic cell sarcoma (IDCS) is an exceedingly rare hematological neoplasm arising from dendritic cells that presents significant diagnostic and therapeutic challenges, particularly in cases of disseminated disease. Here, a 33-year-old woman presented with discomfort of the left pharynx accompanied by nasopharyngeal and cervical mass for 3 months. The histopathology confirmed the diagnosis of IDCS as the neoplastic cells were spindle or ovoid in shape, forming fascicles or whorls, and were positive for S-100, vimentin and CD163 but negative for CD21, CD23, CD35 and CD1a. The patient underwent autologous hematopoietic stem cell transplantation (auto-HSCT) after achieving partial remission (PR) from six courses of chemotherapy based on the ABVD regimen and one cycle of radiotherapy. Encouragingly, the mass disappeared after cladribine containing regimen pretreated auto-HSCT and the patient has been in complete remission (CR) state for over 5 years. Therefore, the long survival of this patient might suggest that ABVD regimen with a sequential cladribine-containing preparative regimen prior to auto-HSCT may improve the prognosis of disseminated IDCS. However, this represents only a single-case experience, and further studies with larger sample sizes are required for validation.

Purpose: Blood transfusion is an essential component of healthcare systems, and blood donors play a critical role in saving lives and enhancing the well-being of others. This study explored blood donation practices among health profession students in northern Uganda.

Participants and methods: We conducted an institutional-based, cross-sectional study with a quantitative approach from November 2023 to July 2024 across five healthcare institutions in Gulu. Attitude toward blood donation was assessed with seven questions, each scored from 0 (negative) to 2 (positive), yielding a total score per participant ranging from 0 to 28. The mean of these total scores across all 408 participants was calculated, with a mean total score of ≥5.0 indicating a positive group attitude, reflecting moderate favorability on average. Knowledge of blood donation practices was evaluated with 16 questions, each scored from 0 (incorrect) to 4 (fully correct), yielding a total score per participant ranging from 0 to 64. The mean of these total scores across all 408 participants was computed, with a mean total score of ≥12.0 signifying adequate group knowledge, representing a basic proficiency level. Willingness to donate blood was determined by a single question, with a "YES" response indicating willingness. Data were cleaned and analyzed using STATA 18.0, with descriptive statistics presented in tables. This study was approved by the Gulu University Research and Ethics Committee (GUREC-2023-619) on 11/11/2023.

Results: A total of 408 participants were recruited, with a median age of 23 years (IQR: 21-24). Half of the participants identified as male, comprising 56.4% (n=230). Most participants demonstrated adequate knowledge about blood donation 73% (n=298). The overall positive attitude towards blood donation was 93.6% (n=382). Nearly all participants considered donating blood (99.0%, n=404), and 83.8% (n=342) expressed a willingness to donate blood in the future. However, only 48.8% (n=199) of respondents reported having donated blood in the past.

Conclusion: While health profession students in northern Uganda exhibit adequate knowledge and positive attitudes towards blood donation, actual blood donation practices remain suboptimal. These findings highlight the need for interventions to translate knowledge and attitudes into consistent donation practices among this population.

Relapsed/refractory multiple myeloma (RRMM) and extramedullary multiple myeloma (EMM) present significant challenges for patients with multiple myeloma (MM) after their disease progresses.Despite notable advancements in treatments like autologous hematopoietic stem cell transplantation (ASCT) and chimeric antigen receptor (CAR)-T-cell therapy, most patients with RRMM and EMM face a short survival period. Currently, there are no effective treatments available. Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is one of the treatment options for MM. Reduced-intensity conditioning (RIC) regimens have largely replaced myeloablative conditioning (MAC) regimens. RIC is now preferred because it significantly lowers transplant-related mortality, which has dropped to 10-20%. However, RIC regimens are linked to higher relapse rates compared to MAC. To enhance the efficacy of allo-HSCT, it is essential to identify a safer and more effective conditioning regimen. We report a case of EMM involving the breast, supraclavicular region, mediastinum, and pleural effusion, among other sites. The patient did not respond to several treatments, including a proteasome inhibitor (PI) like bortezomib, immunomodulatory drugs (IMiDs) such as lenalidomide, and a monoclonal antibody targeting CD38, like daratumumab. Consequently, we recommended haploidentical hematopoietic stem cell transplantation as a salvage treatment. After undergoing allo-HSCT with a conditioning regimen that mainly included selinexor and helical tomotherapy, the patient achieved a complete remission(CR) and enjoyed long-term disease-free survival for 11 months. Along with existing literature, this case provides encouraging insights for future research on RRMM and EMM, and we anticipate more reports on allo-HSCT cases in the future.

Purpose: Vietnam is estimated to have approximately 30,000 hemophilia B (HB) carriers, with hundreds of new cases registered annually. However, comprehensive molecular studies on HB remain limited. Therefore, this study aimed to characterize genetic variants and assess their clinical significance in unrelated Vietnamese patients with HB.

Patients and methods: This study included a cohort of 143 unrelated HB patients with diagnosed FIX levels. Genetic analysis of the F9 gene was performed using DNA sequencing and other molecular techniques. Variant pathogenicity was classified following ACMG/AMP guidelines, supplemented by computational predictions and clinical data.

Results: A 100% variant detection rate was achieved, identifying 83 unique variants from 143 patients. Single nucleotide variants were predominant, with missense variants accounting for 71.08%. Of the 83 unique variants, 20 novel variants were identified, including six missenses, four nonsenses, four frameshifts, two large deletions, two in-frame deletions, and two splice-site variants. The serine protease domain contained the highest proportion of variants (49.4%). Pathogenicity analysis revealed a predominance of severe phenotypes (72.03%). Among the novel variants, twelve were classified as pathogenic, one as likely pathogenic, and seven as variants of uncertain significance. A noteworthy case was the NM_000133.4:c.-21C>T promoter variant associated with HB Leyden, which demonstrated age-dependent improvements in factor IX levels.

Conclusion: This study expands the mutational spectrum of HB in the Vietnamese population and provide critical insights into genotype-phenotype correlations. The identification of novel variants enhances diagnostic precision and underscores the importance of comprehensive genomic analyses in understanding disease mechanisms.