Hemato, Volume 6, Issue 4 (December 2025) – 4 articles

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