National Blood Transfusion Service

Cholangiocarcinoma (CCA) is a highly malignant solid tumor originating from the biliary tract epithelium. Due to its aggressive behavior and late clinical presentation, it poses significant diagnostic and therapeutic challenges. Therefore, finding specific biomarkers and early screening of CCA susceptible people are the current top priorities. Exosomes, a subtype of extracellular vesicles, are secreted by many cells and widely distributed in body fluids. In recent years, exosomes are known to play pivotal roles in cell communication, tumorigenesis, metastasis, and immune modulation. This review summarizes recent advances in our understanding of the relationship between exosomes and cholangiocarcinoma, with a focus on their biological functions, diagnostic implications, and therapeutic potentials.

Hemoglobin Tak (Hb Tak) is an extremely rare high-oxygen-affinity β-globin variant, and data on heterozygous Hb Tak/β-thalassemia remain limited. We performed a retrospective analysis of four Vietnamese cases, reviewing clinical, hematological, and biochemical characteristics. Hemoglobin fractions were analyzed by high-performance liquid chromatography (HPLC), Hb Tak was confirmed by Sanger sequencing, and JAK2V617F mutation testing was used to exclude polycythemia vera (PV).All patients presented with erythrocytosis accompanied by microcytosis and hypochromia, elevated HbA₂ (>3.5%) and/or HbF, and a high proportion of abnormal hemoglobin on HPLC (76.6–83.6%). Serum erythropoietin levels were increased, and the JAK2V617F mutation was negative. Reduced iron stores were observed.Conclusion: This case series expands current knowledge of heterozygous Hb Tak/β-thalassemia. Erythrocytosis and microcytosis should prompt consideration of high-oxygen-affinity hemoglobin variants, not just PV with iron deficiency. Awareness of this distinctive hematological pattern may facilitate appropriate diagnostic evaluation and management, particularly in patients presenting with unexplained erythrocytosis.

Inborn Errors of Immunity (IEIs) are rare genetic disorders that cause immunodeficiency. Diagnosis and classification of these disorders are challenging due to the heterogeneous clinical manifestations and genetic mutations. This is the first study to fully describe the spectrum of gene mutations and genetic diversity of IEIs in Vietnamese pediatric patients. A cross-sectional study was conducted on pediatric patients diagnosed with IEIs at Children’s Hospital 1, Vietnam, from 2014 to 2024. Ninety-two patients with identified mutations were enrolled. Genetic testing was performed using Sanger, fluorescence in situ hybridization, and whole exome sequencing to identify pathogenic variants. Clinical and epidemiological data were collected from medical records and mutations were classified according to the IUIS 2024 classification. The study identified 99 mutations in 33 different genes, with X-linked inheritance being predominant (53.2%). The antibody deficiency and immune dysregulation groups were the most common (22.8% for each mutation). Nineteen novel mutations were identified, all of which were predictively classified as pathogenic or likely pathogenic. The majority of mutations caused protein truncations, leading to loss of function, especially in the immunodeficiencies affecting cellular and humoral immunity and the phagocyte disorder groups. Clinical manifestations differed markedly between the different gene groups, highlighting the complexity of diagnosing IEIs. The number of cases with mutations causing X-linked inheritance was dominant, which was similar to studies from Asian countries, though different from studies from Africa due to the rates of consanguineous marriage. In addition, the variability between clinical phenotype and genotype in IEIs noted from our study has been a significant obstacle to the classification of diseases and their efficient treatment. This is the largest single center cohort to date in Vietnam to describe gene mutations in children with IEIs. The results of the study emphasize the importance of genetic testing in the diagnosis and treatment of IEIs, and open possible directions for further research for novel mutations.

Cytomegalovirus (CMV) causes harm in at-risk populations. Selection of seronegative donors has been used to prevent transmission. Leucodepletion reduces the potential for CMV transmission; however, the residual risk is uncertain, leading to variability in practice. This study systematically reviews the risk of CMV transmission in leucodepleted blood products compared to seronegative blood products. A systematic review identified comparative studies of CMV infection rates following transfusion of leucodepleted blood from CMV-negative or unselected donors. Preclinical studies on blood product CMV transmission, reported cases and studies that informed population risk were also reviewed. Meta-analysis was performed on comparative studies. There was no difference in the rate of infection following transfusion of leucodepleted cellular products with or without donor CMV seronegativity selection, with a relative risk of 1.21 (95% confidence interval [CI]: 0.42-3.49). No confirmed cases of CMV transmission were found. Preclinical studies showed a significant reduction in transmissible virus with leucodepletion, although no threshold could be defined. Cell-free CMV is not removed by filtration, and although it may remain a potential source of infection, there was no evidence of transmission through plasma, possibly due to detectable virus not reflecting intact transmissible virus. Selecting CMV-seronegative donors did not reduce the risk of transmission when transfusing leucodepleted blood products because of the high efficiency of filters in removing transmissible cellular virus. This finding suggests CMV donor negative selection does not substantially contribute to donor safety.

Restrictive red blood cell transfusion strategies are widely recommended for acute anemia but may not adequately address the needs of chronically anemic patients with transfusion-dependent myelodysplastic syndromes or myeloproliferative neoplasms. For these patients with chronic anemia, alleviating symptoms and improving quality of life are key objectives. This study evaluates the impact of additional red blood cell (RBC) transfusions administered alongside standard-of-care transfusions on heart rate, physical activity, quality of life, and cognitive function. This interim analysis of a randomized, multicenter, within-subject, cross-over trial evaluated 12 transfusion-dependent patients receiving three transfusion regimens: standard-of-care, standard-of-care + 1 additional unit, and standard-of-care + 2 additional units. The primary outcome was heart rate, and secondary outcomes were physical activity, quality of life, and cognitive performance. Heart rate and activity were continuously monitored, while questionnaires and cognitive tasks assessed outcomes at predefined visits. Greater hemoglobin augmentation was associated with significant reductions in heart rate, with the largest decrease in patients receiving the standard-of-care + 2 regimen. Quality of life and fatigue measures showed transient improvements with more red blood cells transfused, though these changes were not statistically significant. Cognitive performance trends suggested possible benefits, but findings were inconsistent. Physical activity, as measured by daily step count, was unaffected by transfusions. This interim analysis suggests that higher post-transfusion hemoglobin is associated with lower heart rate, reflecting enhanced oxygen delivery. Wearable monitoring was sensitive to these changes. Nonsignificant, hypothesis-generating trends toward improved QoL, fatigue, and cognition were observed.

ABSTRACTAcute myeloid leukaemia (AML) with isolated trisomies (ITs) represents a distinct cytogenetic subgroup with heterogeneous clinical behaviour and incompletely defined molecular features. To explore its genomic and transcriptomic landscape, we performed next‐generation sequencing (NGS) on 14 AML patients harbouring isolated trisomies of chromosomes 8, 9, 10, 13, 14, 21 and 22. RNA sequencing (RNA‐Seq) was conducted on 15 samples, including 12 with IT and 3 cytogenetically normal AML cases (normal karyotype, NK‐AML) serving as controls. Trisomy 8 was most frequent, followed by chromosomes 13, 14 and 21. Recurrent mutations were identified in epigenetic regulators (DNMT3A, IDH1/2, ASXL1, TET2). Transcriptomic profiling stratified cases into IT‐8, IT‐21 and IT‐13+22 subgroups. Gene set enrichment analysis (GSEA) revealed shared downregulation of cell cycle‐related pathways (e.g., G2M checkpoint) and subgroup‐specific patterns: oxidative stress and unfolded protein response in IT‐8; epithelial‐mesenchymal transition and oxidative phosphorylation in IT‐21; inflammatory signalling (IL‐6/JAK/STAT, TNF‐α/NF‐κB) in IT‐13+22. A core set of 60 differentially expressed genes (DEGs) was shared, with nine hub genes related to cell cycle (MCM4, CDC7, CDC25A, DHFR), proteostasis (HSPA5, DNAJC3, CALR, HSP90B1) and inflammation. Drug sensitivity profiling revealed subgroup‐specific vulnerabilities: IT‐8 to DNA damage checkpoint inhibitors, IT‐21 to PLK/mTOR inhibitors and IT‐13+22 to BRAF/EGFR‐targeted agents. These findings highlight AML‐IT heterogeneity and therapeutic potential.

The blood donor population has great potential to serve as a sentinel system for the general population. The data presented in this study of a survey of the seroprevalence of Anti-SARS-CoV-2 antibodies in Switzerland are an illustrative example of this possibility. From March 2020 to January 2021, the increase in antibody seroprevalence for both Anti-NCP and Anti-S was only very moderate, up to ~17%. In May/June 2021, the Anti-NCP seroprevalence was 21.6% and the S-seroprevalence 59.4%, respectively, indicating only a moderate natural infection rate. The Anti-seroprevalence rate was in good agreement with the first vaccination campaign launched in winter 2020/21. The dramatic increase in the antibodies against the NCP protein (74.6%) since November/December 2021 to June–August 2022 was simultaneous with the appearance and rapid spread of the Omicron SARS-CoV-2 variant in Switzerland and the abolition of compulsory mask wearing in public spaces. At the end of 2022, 99.0% of the blood donor population already developed antibodies against the S protein and 83.9% against the NCP. One year later, after the official termination of the pandemic, these seroprevalences were even higher, 99.8% for the Anti-S and 95.0% for Anti-NCP. This increase for both of them was in accordance with the vaccination campaigns, the abolition of mask wearing, and the spread of the Omicron variant. These data show how the blood donor population can be used to represent the infection surveillance of the general population of a region or country.