Hemato

Angioimmunoblastic T-cell lymphoma (AITL) is a rare subtype of peripheral T-cell lymphoma (PTCL) and is frequently associated with autoimmune phenomena. Clinically, AITL shows an aggressive disease course and poor prognosis with currently available treatment strategies. We here report the case of a 64-year-old female patient who was diagnosed with AITL and showed a complicated clinical course due to concurrent immune-mediated thrombotic thrombocytopenic purpura (iTTP). To our knowledge, the presented case highlights a previously unreported association of both conditions. Treatment, including chemotherapy and iTTP-directed treatments, resulted in rapid clinical improvement and sustained remission of both the AITL and the concurrent iTTP. In AITL, transformed T-follicular helper cells (TFHs) are particularly thought to mediate hypersecretion of cytokines and excessive autoantibody production. Immunological disturbances to large parts mediated through these transformed TFHs are thought to trigger autoimmune conditions, as seen with iTTP in this patient. At 36 months post-treatment, the patient remains in complete remission for both AITL and iTTP. This case highlights the complex immunopathological relationship between AITL and autoimmune disorders possibly impeding diagnosis and treatment in a timely manner. Full article

Background: Sickle cell disease (SCD) is a hereditary blood disorder marked by the production of abnormally shaped, rigid red blood cells that obstruct blood flow, resulting in pain, organ damage, and increased infection risk. SCD poses a significant public health challenge in Nigeria, which has the highest global burden, with about 150,000 affected children born annually. The high prevalence is exacerbated by limited healthcare infrastructure, low public awareness, and socio-economic barriers, making effective disease management difficult. Understanding the knowledge of home-based caregivers is essential to identify gaps that may impact care quality. This study was performed within the African Research and Innovative Initiative for Sickle Cell Education (ARISE, EC GA No 824021) project to develop best practice in the clinical management of SCD. Aim: This study explores the knowledge, experiences, and educational needs of home-based caregivers of children with SCD attending the Paediatric Haematology Clinic, ABUTH, Zaria. Methods: A qualitative case study design was used, involving in-depth interviews with ten purposively selected caregivers. Interviews were conducted in Hausa, transcribed, and translated into English. Thematic analysis was performed. Results: Four themes emerged: 1. Understanding of SCD aetiology 2. Knowledge of symptoms 3. Awareness of complications and 4. Knowledge of SCD type. Conclusions: Home-based caregivers had limited knowledge of the genetic basis of the disease, but possess some knowledge of SCD key symptoms, enabling basic disease management and healthcare seeking. However, there is a need to enhance caregiver education to improve care quality and health-seeking behaviour for children with SCD. Full article

Objective: This study aimed to investigate erythrocyte morphological alterations in hematological malignancies, with particular emphasis on structural differences among leukemia subtypes and anemia. Materials and Methods: Peripheral blood samples were obtained from 60 patients, including individuals with anemia (n = 10), acute lymphoblastic leukemia (ALL, n = 15), acute myeloid leukemia (AML, n = 15), chronic lymphocytic leukemia (CLL, n = 15), and chronic myeloid leukemia (CML, n = 5), as well as 10 healthy controls. Erythrocyte morphology was evaluated using light microscopy and scanning electron microscopy. Morphological abnormalities, including loss of biconcavity, poikilocytosis, echinocyte transformation, burr cells, and stomatocytes, were assessed in accordance with International Council for Standardization in Haematology (ICSH)-based morphological definitions. Results: Distinct erythrocyte morphological alterations were observed across disease groups. AML cases demonstrated pronounced central depression-like or perforation-like structures and hypochromasia. Lymphoid malignancies, particularly ALL and CLL, exhibited increased echinocyte formation, whereas chronic leukemias showed a higher prevalence of stomatocytes and cup-shaped cells. Quantitative scoring indicated that loss of biconcavity was most prominent in anemia, followed by AML, CML, ALL, and CLL. Poikilocytosis was most frequent in anemia, followed by ALL, CLL, AML, and CML. Conclusions: The findings indicate that erythrocyte shape alterations are more heterogeneous and prominent in lymphoid leukemias, whereas myeloid leukemias exhibit distinct ultrastructural membrane abnormalities. Although studies focusing on erythrocyte morphology in leukemia remain limited, the present results provide a foundational morphological reference dataset that may support the development and validation of artificial intelligence-based diagnostic approaches. Further studies involving larger cohorts and expanded imaging analyses are warranted to improve diagnostic accuracy and translational applicability. Full article

Marginal zone lymphomas (MZLs) are indolent mature B-cell neoplasms. Approximately 3.4% of gastrointestinal mucosa-associated lymphoid tissue (MALT) lymphomas involve the small bowel. Pseudoaneurysmal dilation has been reported in up to 35% of patients with small bowel MALT lymphoma. We report the case of a 73-year-old woman with ulcerative colitis in remission who presented with hematuria, constitutional symptoms, and progressive respiratory distress. Imaging incidentally revealed pseudoaneurysmal dilation of the small bowel and thoracic findings suggestive of pulmonary lymphangitic dissemination. A PET scan showed lung, nodal, and small bowel infiltration. Histopathological and flow cytometry examinations confirmed small bowel MZL, and bone marrow biopsy excluded marrow involvement. The patient was treated with R-CHOP chemotherapy and then R-Bendamustine, achieving complete clinical and radiological remission. This case illustrates a rare presentation of intestinal MALT lymphoma and emphasizes the diagnostic significance of correlating imaging and clinical findings in identifying pseudoaneurysmal dilatation and distinguishing it from other potential causes. Full article

Background: Feto-maternal hemorrhages (FMHs) due to placenta disruption and bleeding from fetal maternal circulation can lead to life-threatening fetal anemia. These hemorrhages are more often of small volume and remain unreported. Sensitization to fetal red blood cell (RBC) antigens can occur during pregnancy, at delivery, or after invasive procedures. The sensitized mother produces IgG antibodies (abs) that cross the placenta and cause the hemolysis of fetal RBCs, release of hemoglobin, and increased levels of unconjugated bilirubin in the fetus or neonate. The result is hemolytic disease of the fetus and newborn (HDFN). Methods: In this study, we aim to provide a structured overview of RBC alloimmunization in pregnancy. A literature search was conducted using PubMed. English articles published from January 2010 to October 2025 were selected by the authors. The contributing manuscripts focused on managing RBC alloimmunization in pregnancy, FMH screening and quantification, antenatal and postnatal testing, Rh immune globulin (Rh Ig or Anti-D) prophylaxis, and national registry data. Results: Frequencies of RBC abs vary among American, Caucasian, and Asian populations because of genetic diversity, different antibody detection and antibody identification methods, and FMH tests. More specifically, the erythrocyte rosette is a simple screening test for FMH. A positive rosette must be quantified by the Kleihauer–Betke (KB) or flow cytometry (FC). The KB results may be overestimated or underestimated. The advantages of FC include high accuracy, specificity, and repeatability. Ultimately, anti-D prophylaxis protocol varies from country to country. Conclusion: Maternal alloimmunization is an uncommon and highly variable event. Although introducing anti-D prophylaxis has decreased the Rh immunization rate, it is still an unmet medical need. In brief, mitigation strategies for RBC alloimmunization risk include accurate maternal and neonatal testing at different time points, adequate Rh immune globulin prophylaxis in D-negative pregnant women, preventing sensitizing events, adopting a conservative transfusion policy, and upfront ABO and Rh (C/c, E/e) and Kell matching in females under 50 years of age. Full article

Background/Objectives: Tyrosine kinase inhibitors (TKIs) have transformed the treatment of chronic myeloid leukemia (CML), yet emerging evidence indicates an increased risk of vascular adverse events, particularly peripheral artery disease (PAD). Reliable biomarkers for early detection of TKI-related vascular toxicity are still lacking. Methods: A cross-sectional study was conducted on 78 patients with chronic-phase CML treated at Dr. Soetomo General Hospital, Surabaya. PAD was confirmed using ankle–brachial index. Serum oxidized low-density lipoprotein (OxLDL) and interleukin-10 (IL-10) levels were measured using ELISA. Results: PAD was detected in 20% of subjects. The PAD group showed significantly higher OxLDL, lower IL-10, and a markedly elevated OxLDL/IL-10 ratio (all p < 0.001). OxLDL remained independently associated with PAD after adjustment (adjusted OR = 1.132, 95% CI 1.020–1.255, p = 0.019). OxLDL/IL-10 ratio yielded a good diagnostic value (sensitivity 87.5% and specificity of 88.7%). Conclusions: Elevated OxLDL and an increased OxLDL/IL-10 ratio are associated with PAD in CML patients receiving TKI therapy and demonstrated a good diagnostic performance for early detection of TKI-induced vascular toxicity. Full article

Introduction: Ropeginterferon alfa-2b is an emerging treatment for polycythemia vera, with growing interest in its application for essential thrombocythemia and early myelofibrosis due to its extended dosing intervals and favorable tolerability profile. However, real-world evidence regarding its dosing strategies and titration practices remains limited. Objective: This study examined seven younger patients, all under 60 years of age, who were treated with ropeginterferon alfa-2b. Materials and Methods: This study is a retrospective medical records review of consecutive patients from seven hospitals. Treatment was initiated at a dose of 250 micrograms, with a maintenance dose of 500 micrograms. Results: The regimen demonstrated good safety and tolerability in this real-world setting. Hematological responses were observed, along with a meaningful reduction in JAK2V617F variant allele frequency across the patient cohort. Conclusions: These findings show that the use of high-initial-dose accelerated titration (HIDAT) regimen of ropeginterferon alfa-2b is a safe and effective treatment option for younger patients with myeloproliferative neoplasms. Full article

Background: The emergence of therapy-related myelodysplastic syndrome (t-MN) after autologous stem cell transplantation (ASCT) is well documented. However, with the growing use of chimeric antigen receptor (CAR) T-cell therapy for relapsed/refractory B-cell malignancies, concerns about secondary myeloid neoplasms, particularly MN, have arisen. The mechanisms and cytogenetic features associated with post-CAR-T MN, especially chromosome 7 abnormalities, remain underexplored. Objectives: To compare the incidence, timing, and cytogenetic characteristics of MN developing after CAR-T-cell therapy versus ASCT, and to evaluate the potential association between CAR-T therapy, persistent cytopenias, and these specific alterations. Study Design: This was a retrospective, single-center study of 275 patients with B-cell malignancies treated between 2015 and 2024 at Hospital Universitario Central de Asturias (Spain). Of these, 259 patients underwent ASCT and 16 received CAR-T-cell therapy (axicabtageneciloleucel n = 13, tisagenlecleucel n = 2, brexucabtageneautoleucel n = 1). Clinical, cytogenetic, and laboratory data were collected and analyzed. Incidence rates were compared using Fisher’s exact test, and time-to-event outcomes was evaluated using the Mann–Whitney U test (given the small number of events). Statistical significance was set at p < 0.05. Results: Myeloid neoplasms were diagnosed in 3 of 259 ASCT patients (1.15%) and in 2 of 16 CAR-T-cell patients (12.5%) (p = 0.03). The median time to myeloid neoplasm diagnosis was numerically shorter in the CAR-T group (15.5 vs. 69 months, p = 0.096). All post-CAR-T cases presented persistent cytopenias and cytokine release syndrome (CRS). Cytogenetic analyses revealed de novo monosomy 7 and 7q deletion in both CAR-T-related cases, whereas no chromosome 7 abnormalities were detected in ASCT-related cases. Pre-treatment samples did not show these abnormalities, although limitations in the sensitivity of the assays preclude the definitive exclusion of minor pre-existing clones. Both affected CAR-T patients had prolonged CAR-T cell persistence and required transfusional support due to hematologic toxicity. One patient was diagnosed with high-risk MN with 5q and 7q deletion and the other with Clonal Cytopenia of Uncertain Significance (CCUS) with monosomy 7. Conclusions: CAR-T-cell therapy was associated with a significantly higher and earlier incidence of myeloid neoplasms compared to ASCT in this cohort. The development of post-CAR-T myeloid neoplasm was characterized by persistent cytopenias, prolonged CAR-T cell persistence, and de novo chromosome 7 alterations. While the small sample size necessitates cautious interpretation, these findings may suggest a distinct pathogenesis potentially linked to inflammation, immune toxicity, or the expansion of pre-existing clones. This highlights the need for long-term hematologic monitoring and evaluation for clonal hematopoiesis prior to CAR-T-cell therapy, especially in heavily pretreated patients. Full article

Background/Objectives: Understanding blood group antigen distribution is essential for transfusion safety and preventing alloimmunization in transfused patients. The ABO, RH1, and Kell blood group systems are among the most clinically significant due to their high immunogenic potential and their role in hemolytic transfusion reactions and hemolytic disease of the newborn. Despite their clinical significance, data on the phenotypic frequency of these samples in southern Chile are limited. This study aimed to identify the distribution of ABO, RH1, and Kell blood group systems among blood donors at the Centro de Sangre Concepción, adding regional data to the national transfusion medicine records. Methods: A retrospective, descriptive analysis was conducted using data from 59,318 blood donations collected in 2024 by the Concepción Blood Center, part of the Southern Transfusion Medicine Macronetwork in Chile. Blood typing for the ABO, RH1, and Kell antigen (KEL1) typing was performed in accordance with national regulations established by the Ministry of Health (MINSAL). Results: Blood group O was the most frequent (61.3%), followed by A (27.8%), B (9.0%), and AB (1.9%). RH1 positivity was observed in 94.47% of donors, and Kell positivity in 4.24%. The distribution of Kell phenotypes was comparable between men (4.38%) and women (4.11%), with the highest frequency in donors aged 27–52 years. Conclusions: The phenotypic distribution observed reflects national patterns and shows the genetic makeup of southern Chile. The low but important prevalence of Kell-positive donors emphasizes the need for systematic Kell antigen screening to prevent alloimmunization and improve transfusion safety. Full article

Background: Malignant lymphomas are among the most common hematological neoplasms and include a heterogeneous group of entities characterized by distinct morphology, immunophenotype, genetics, and clinical features. Recent advances in molecular diagnostics have significantly improved our understanding of the genetic lesions and mechanisms underlying lymphomagenesis. Methods: This review summarizes key developments in molecular pathology relevant to B-cell lymphomas, including updates from the World Health Organization classification and recent progress in genomic, immunophenotypic, and clinical assessment. We highlight findings from next-generation sequencing studies and other molecular approaches used in routine and research settings. Results: Many molecular alterations are now routinely incorporated into diagnostic criteria and influence risk stratification, prognosis, and treatment selection. Although not all lesions are evaluated in everyday clinical practice, several changes have demonstrated prognostic significance and therapeutic relevance. Molecular subclassification has refined our ability to predict clinical behavior and response to targeted therapies. Conclusions: Advances in molecular diagnostics continue to reshape the clinical approach to lymphomas. Improved classification, better identification of therapeutic targets, and more accurate prognostic tools collectively enhance personalized treatment strategies. As a result, molecular tools increasingly guide clinical decision-making and contribute to improved outcomes in patients with B-cell lymphomas. Full article

Background/Objectives: Complete blood count (CBC)-derived markers such as the neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), and lymphocyte-to-monocyte ratio (LMR) have gained increasing attention as accessible indicators of systemic inflammation. These parameters, calculated from routine blood tests, are widely available in clinical settings and are potentially relevant for a variety of chronic diseases. This review aims to explore current evidence and highlight potential future directions regarding the use of hematologic inflammatory biomarkers in chronic disease. Methods: We performed an extensive literature search on PubMed to identify full-text original studies published in the past five years, focused on investigating the clinical applications of hematologic inflammatory markers in chronic conditions. Results: CBC-derived inflammatory markers have been studied in a wide range of chronic diseases, including autoimmune diseases, metabolic disorders, chronic kidney disease, chronic infections, psychiatric diseases, and other conditions. These markers have been evaluated for multiple clinical purposes, such as aiding diagnosis, monitoring disease status, assessing disease activity, disease subtype characterization, predicting prognosis, and evaluating associations with disease outcomes. Conclusions: As chronic diseases affect millions of individuals globally, placing a burden for the healthcare system, patients, and their families, simple and cost-efficient tools like CBC-derived inflammatory markers have the potential to improve clinical case management. Full article

Introduction: Disease knowledge and health literacy are important health competencies that individuals with chronic conditions like Sickle Cell Disease (SCD) need for self-management. This study aimed to: (I) describe and compare SCD knowledge and health literacy levels in adolescents and young adults (AYAs) with SCD in Benin; (II) examine associations between genotype, socio-demographic factors, health literacy, and SCD knowledge; and (III) examine the associations between patients SCD knowledge, health literacy, socio-demographic factors, and (a) frequency of hospitalisations and (b) frequency of occurrence of painful episodes. Methods: AYAs aged 14 to 25 years with SCD attending routine consultations at two Benin clinics—the National Sickle Cell Disease Centre (CPMI-NFED) and the Haematology clinic of the University Teaching Hospital (CUMAS), completed a questionnaire assessing SCD knowledge and health literacy (Health Literacy Measure for Adolescents, HELMA). Results: Most participants had inadequate health literacy: 72.1% at CPMI-NFED and 82.1% at CUMAS, with no significant differences between centres (t = 1.642, p = 0.200). CPMI-NFED participants had higher SCD knowledge than those at CUMAS (t = 4.303, p = 0.038). Higher SCD knowledge (β = 0.466; p < 0.001) and health literacy (β = 5.081; p < 0.001) were associated with older age. Tertiary-level education was associated with higher health literacy (β = 4.286; p = 0.023). Participants with high SCD knowledge experienced fewer painful episodes (IRR = 0.777, p = 0.046), but no significant differences in hospital admissions (IRR = 0.764, p = 0.162). Conclusions: Inadequate health literacy is common in AYAs with SCD in Benin. Having high SCD knowledge may have an impact on the occurrence of painful episodes. Full article

Imatinib (IMT) is a small-molecule tyrosine kinase inhibitor that primarily targets platelet-derived growth factor receptor-β and related kinases. Beyond its established efficacy in chronic myeloid leukemia, IMT has also demonstrated therapeutic benefits in gastrointestinal stromal tumors, dermatofibrosarcoma, acute lymphoblastic leukemia, and as a second-line treatment for aggressive systemic mastocytosis or as an anti-Mycobacterium agent. From a physicochemical perspective, IMT exhibits poor aqueous solubility but high membrane permeability, classifying it as a Biopharmaceutics Classification System Class II compound. Pharmacokinetically, IMT shows variable oral absorption and a prolonged terminal half-life, resulting in dose-dependent systemic exposure. Despite relatively high oral bioavailability, its clinical use requires large doses to achieve therapeutic efficacy, underscoring the need for advanced drug delivery strategies. Nano- and microscale delivery systems offer promising approaches to enhance tumor-specific accumulation through the enhanced permeability and retention effect while mitigating resistance mechanisms. However, achieving high drug loading introduces formulation challenges, such as controlling particle size distribution, polydispersity, and scalability. Moreover, designing carriers capable of controlled release without premature leakage remains crucial for maintaining systemic bioavailability and therapeutic performance. Emerging delivery platforms—including polymeric, lipid-based, carbon-derived, and stimuli-responsive nanocarriers—have shown significant potential in overcoming these limitations. Such systems can enhance IMT’s bioavailability, improve selective tumor targeting, and minimize systemic toxicity, thereby advancing its translational potential. This review aims to highlight the different biomedical applications of IMT and off-label uses, and to discuss current advances in drug delivery to optimize its clinical efficacy and safety profile. Full article

This article represents a brief overview of the recent achievements in the treatment of multiple myeloma. New opportunities and treatment challenges are discussed in the context of risk factors regarding outcomes. The options for specific targeted treatments are discussed, and references are made to recent guidelines on the diagnosis and treatment of multiple myeloma. Full article

T-cell acute lymphoblastic leukemia (T-ALL) is an aggressive hematologic malignancy, typically presenting with systemic symptoms and mediastinal involvement. Leukemia cutis (LC) and renal infiltration are rare, especially at disease onset. A 27-year-old man presented with a solitary scalp lesion without systemic symptoms or hematologic abnormalities. Histopathology revealed a blastoid lymphoid infiltrate with a T-ALL immunophenotype. Two weeks later, laboratory tests showed leukocytosis, lymphocytosis, and renal dysfunction. Imaging revealed a large mediastinal mass, scalp soft tissue involvement, and bilateral renal infiltration. Bone marrow biopsy confirmed T-ALL with a mature phenotype. FISH identified TRAD:NKX2 rearrangement and CDKN2AB deletion. The patient received three cycles of pediatric-inspired chemotherapy, achieving complete molecular remission and resolution of extramedullary disease. He subsequently underwent allogeneic hematopoietic stem cell transplantation (HSCT) from an HLA-matched sibling. Post-transplant complications included febrile neutropenia and mucositis. On day +100, he remained in minimal residual disease (MRD)-negative remission. This case illustrates a rare presentation of T-ALL with isolated skin involvement and renal infiltration at diagnosis, highlighting the importance of early biopsy and immunophenotyping of atypical skin lesions. Intensive chemotherapy followed by HSCT represents a viable strategy for young adults with high-risk T-ALL and extramedullary disease. Full article

Introduction: Sickle cell anemia (SCA) is a hereditary hemoglobinopathy caused by a mutation in the beta-globin gene, resulting in the production of hemoglobin S. Intracranial hemorrhage (ICH) is a severe complication for patients with SCA, but there is a paucity of literature on its epidemiology, risk factors, and clinical outcomes. To address this knowledge gap, we conducted a comprehensive analysis using the Nationwide Inpatient Sample (NIS) database to evaluate the epidemiology, prevalence, predictors, and clinical outcomes of ICH in adults with SCA. Methods: We conducted a retrospective cohort study using the NIS database from 2016 to 2020 to identify hospitalizations with SCA, using the ICD-10-CM (International Classification of Diseases, Tenth Revision, Clinical Modification) codes. Subsequently, we derived the prevalence and predictors of ICH in SCA adults. Results: Out of 468,070 admissions of adult hospitalizations (Aged ≥ 18 years) with SCA between 2016 and 2020 in the United States, 825 (0.17%) had ICH (nontraumatic intraparenchymal and/or subarachnoid bleeding). 410 (49.7%) were males, and 380 (46.0%) belonged to the age group of more than 45 years. The mean length of stay was 14.9 days, and 210 deaths occurred during the index hospitalization, resulting in a 25.4% inpatient mortality rate as compared to 0.6% in SCA-non-ICH patients (p < 0.001). Across all adult SCA hospitalizations during 2016–2020 (n = 468,070), ICH accounted for 210 of 2940 inpatient SCA deaths (7.1%). On multivariate logistic regression analysis, hypertension (OR:2.08, 95% CI: 1.2–3.3), prior history of ischemic stroke (OR: 17.06, 95% CI: 7.5–38.5), and a Charlson comorbidity index of more than one (OR: 2.9, 95% CI: 2.4–3.5) are significant predictors of ICH in adults with SCA. Conclusions: This study highlights the high prevalence of ICH in addition to the well-known thrombotic phenomenon among SCA patients. Stroke prevention and hypertension control are of paramount importance for the prevention of this catastrophic event in patients with SCA. Full article

Background: Haemoglobinopathies are among the most common monogenic disorders worldwide. Early identification of asymptomatic carriers through reliable screening and molecular diagnostics is crucial for prevention programmes, especially in high-prevalence regions such as Southern Italy. Methods: A total of 5243 individuals were analysed between 2013 and 2024 using both biochemical and genetic parameters. First-level screening included full blood count, iron status, and high-performance liquid chromatography (HPLC) for haemoglobin variant quantification. Molecular analyses were performed using next-generation sequencing (NGS) for the HBA1, HBA2, and HBB genes. Results: We identified 267 individuals (11.2%) as carriers of α-thalassaemia and 473 individuals (16.7%) as carriers of β-thalassaemia. Among them, 5 were compound heterozygotes and 3 homozygous for the α-3.7 deletion. A rare case of HbG Philadelphia in association with a triplicated α-gene was also observed. The most common β-globin mutations included c.118C>T (β⁰39, 44%), IVS-I-110 (17.7%), IVS-I-6 (12.7%), and IVS-I-1 (12.3%). Among α-globin mutations, the most prevalent were -α^3.7 (48%), α2 IVS1 -5nt (15.4%), -20.5 Kb (14.2%), and triplicated α (11%). In total, 18.7% of individuals were found to carry either α- or β-thalassaemia traits. Conclusion: Our findings highlight the limitations of traditional diagnostic methods—such as the osmotic fragility test—and the importance of integrating haematological, biochemical, and molecular data to accurately identify thalassaemia carriers. The variability of genotype–phenotype correlations, especially in the context of immigration and genetic diversity, underscores the need for comprehensive molecular analysis. We propose a three-step diagnostic algorithm combining first-level screening, iron status assessment, and NGS-based sequencing for inconclusive cases. Full article

Background/Objectives: Erythrocyte alloimmunization is a critical complication impacting the efficacy of transfusion therapy in patients with thalassemia. This study seeks to evaluate the prevalence, characterization, and determinants of erythrocyte alloimmunization in multi-transfused thalassemia patients in south of Morocco. Methods: A retrospective study was conducted at the Moroccan Blood and Blood Derivatives Agency in Marrakech (Morocco) over 2 years, from June 2022 to June 2024, including 89 patients with beta-thalassemia receiving regular transfusions. The clinical, demographic, and transfusion characteristics of patients who developed alloimmunization were compared with those of non-alloimmunized patients. Results: Analysis of 89 β-thalassemia patients in the Marrakech region, mostly young and suffering from major form (67%), shows a significant male predominance (p = 0.004) and a high frequency of blood group O+ (49.4%). Alloimmunization mainly affects major forms and males and is associated with frequent annual transfusions (over 12 per year), usually resulting in the use of 24 to 60 packed red blood cell units annually. Alloimmunized patients mostly present anti-K and anti-E antibodies, indicating the involvement of the Kell and Rh systems. The direct Coombs test was more often positive in these patients (21.4% vs. 7.9%, p < 0.01). Conclusions: The high prevalence of alloimmunization in thalassemia patients in the Marrakech region highlights the need for a rigorous and personalized transfusion strategy, including molecular genotyping and alternative therapies. Full article

Complete or partial deletions of chromosome 7 (-7/del7q) represent the most frequent chromosomal abnormalities observed in myeloid neoplasms (MNs) and are associated with a poor prognosis. -7/del7q is observed in 10–15% of adult patients with myelodysplasia (MDS) or with acute myeloid leukemia (AML). The occurrence of -7/del7q is particularly frequent in pediatric MDS, often associated with germline mutations of GATA2 or SAMD9/SAMD9L genes. The disease biology of -7/del7q and the genes driving leukemic development have not been completely elucidated, but the haploinsufficiency of tumor suppressor genes located in chromosome 7 deleted regions seems to play a relevant role. The response to standard treatments based either on chemotherapy or hypomethylating agents plus Venetoclax is limited. No approved targeted therapies exist for patients with -7/del7q; however, some recent studies have discovered some vulnerabilities of these myeloid neoplasms than can be efficiently targeted. Full article