Hematology Reports

12 pages, 263 KB

Open AccessReview

Navigating the New Era in Myelodysplastic Neoplasms: A Review of Prognostic Implications of the IPSS-M Score and 2022 WHO Classification

by Mihai-Emilian Lapadat, Oana Stanca, Nicoleta Mariana Berbec, Cristina Negotei and Andrei Colita

Hematol. Rep. 2025, 17(6), 58; https://doi.org/10.3390/hematolrep17060058 - 30 Oct 2025

Abstract

Myelodysplastic neoplasms represent a diverse group of clonal hematopoietic stem cell disorders characterized by ineffective hematopoiesis, peripheral cytopenias, and an inherent risk of progression to acute myeloid leukemia. Accurate risk assessment and patient stratification are critical to optimizing therapeutic approaches and clinical outcomes. [...] Read more.

Myelodysplastic neoplasms represent a diverse group of clonal hematopoietic stem cell disorders characterized by ineffective hematopoiesis, peripheral cytopenias, and an inherent risk of progression to acute myeloid leukemia. Accurate risk assessment and patient stratification are critical to optimizing therapeutic approaches and clinical outcomes. In 2022, significant advancements reshaped both the classification and prognostic stratification of MDSs. The revised WHO Classification introduced crucial genetically defined subtypes, particularly those involving biallelic TP53 inactivation and SF3B1 mutations, shifting the emphasis from traditional morphology-based criteria to molecular ones. Simultaneously, morphological subtypes such as hypoplastic and hyperfibrotic MDSs were established as distinct entities with unique prognostic implications. At the same time, the introduction of the International Molecular Prognostic Scoring System (IPSS-M) provided a more precise prognostic stratification by integrating comprehensive molecular data alongside traditional clinical and cytogenetic parameters. Several validation studies have confirmed IPSS-M’s superior discriminative power compared to previous models, notably IPSS-R, improving predictions regarding overall survival and leukemia transformation. Nevertheless, practical considerations regarding the widespread application of IPSS-M have emerged, including concerns over economic feasibility and accessibility of advanced molecular testing methods, such as extensive Next-Generation Sequencing panels. This review synthesizes the recent literature and critical studies validating these classification and prognostic updates, discussing their clinical impact, practical considerations, and implications for targeted therapeutic strategies. By focusing on molecular pathogenesis, the latest classification systems and prognostic models promise significant advances in patient-specific management, setting the stage for future innovations in treatment and improved patient outcomes. Full article

10 pages, 819 KB

Open AccessArticle

Role of Daratumumab, Lenalidomide, and Dexamethasone in Transplantation-Eligible Patients with Multiple Myeloma After the Failure of Bortezomib-Based Induction Therapy

by Shun Ito, Takashi Hamada, Masaru Nakagawa, Takashi Ichinohe, Hironao Nukariya, Toshihide Endo, Kazuya Kurihara, Yuichi Takeuchi, Shimon Otake, Hiromichi Takahashi, Hideki Nakamura and Katsuhiro Miura

Hematol. Rep. 2025, 17(6), 57; https://doi.org/10.3390/hematolrep17060057 - 29 Oct 2025

Abstract

Background/Objectives: The role of daratumumab, lenalidomide, and dexamethasone (DRd) in autologous stem cell transplantation (ASCT)-eligible patients with multiple myeloma (MM) after first-line bortezomib, cyclophosphamide, and dexamethasone (VCd) treatment is not yet established. Methods: We retrospectively evaluated ASCT-eligible patients with MM who received second-line [...] Read more.

Background/Objectives: The role of daratumumab, lenalidomide, and dexamethasone (DRd) in autologous stem cell transplantation (ASCT)-eligible patients with multiple myeloma (MM) after first-line bortezomib, cyclophosphamide, and dexamethasone (VCd) treatment is not yet established. Methods: We retrospectively evaluated ASCT-eligible patients with MM who received second-line therapy with DRd after initial induction therapy with VCd between 2017 and 2023 (salvage group). For comparison, patients who successfully underwent per-protocol treatment with VCd induction, followed by ASCT during the same period, were selected (control group). Results: Eight patients with a median age of 61 years (range, 36–68 years) were included in the salvage group. After a median of 5 DRd cycles, the best response was partial response (PR) in two patients (25%) and a very good partial response (VGPR) in six (75%). All patients underwent ASCT, resulting in PR in one (13%), VGPR in four (50%), and stringent complete response in three (38%). Measurable residual disease (MRD) assessed using multicolor flow cytometry was negative in four patients (50%). The controls included thirteen patients with a median age of 60 years (range, 44–64 years). While most patients in both groups received various post-ASCT therapies, the post-ASCT 2-year time to the next treatment rate was slightly better in the salvage group than in the control group (88% vs. 49%, p = 0.089). However, hypogammaglobulinemia was more common in the salvage group (75% vs. 15%, p = 0.018). Conclusions: This small case series suggests that DRd is promising for ASCT-eligible patients with MM after VCd failure. Full article

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20 pages, 1094 KB

Open AccessReview

The Gut Microbiome Role in Multiple Myeloma: Emerging Insights and Therapeutic Opportunities

by Mina Y. George, Nada K. Gamal, Daniel E. Mansour, Ademola C. Famurewa, Debalina Bose, Peter A. Messiha and Claudio Cerchione

Hematol. Rep. 2025, 17(6), 56; https://doi.org/10.3390/hematolrep17060056 - 27 Oct 2025

Abstract

Multiple myeloma is a hematological cancer depicted by the proliferation of plasma cells within the bone marrow, causing immune dysfunction and other abnormalities. The gut microbiome, the microbial community in the gastrointestinal tract, was found to modulate systemic immunity, inflammation, and metabolism. Although [...] Read more.

Multiple myeloma is a hematological cancer depicted by the proliferation of plasma cells within the bone marrow, causing immune dysfunction and other abnormalities. The gut microbiome, the microbial community in the gastrointestinal tract, was found to modulate systemic immunity, inflammation, and metabolism. Although the interplay between gut microbiome and multiple myeloma has been found in recent research, there is a gap in knowledge linking the effect of the microbiome on the pathogenesis and treatment of multiple myeloma. The imbalance in the gut microbiome, dysbiosis, may influence multiple myeloma pathogenesis through immune modulation and inflammation. Certain microbial species have been associated with multiple myeloma progression, complications, and therapeutic responses to treatment. Moreover, microbiome-derived metabolites, short-chain fatty acids, can influence the immune circuits associated with multiple myeloma progression. Understanding the bidirectional relationship between multiple myeloma and gut microbiota may provide insights into enhanced treatment and the development of new microbiome-based interventions. The current review provides a comprehensive highlight of current evidence linking the gut microbiome with multiple myeloma, demonstrating its significant roles in the development, progression, and treatment of multiple myeloma. Additionally, it focuses on the therapeutic potential of modulating the gut microbiome as a novel adjunct strategy in multiple myeloma management. Full article

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14 pages, 447 KB

Open AccessArticle

Outcomes for Primary Central Nervous System Lymphoma from a Single Institution

by Sruthi Dontu, Jacob Boccucci, Michael Chahin, Amany Keruakous, Anand Jillella, Jorge Cortes, Vamsi Kota, Locke Bryan and Ayushi Chauhan

Hematol. Rep. 2025, 17(6), 55; https://doi.org/10.3390/hematolrep17060055 - 24 Oct 2025

Abstract

Background: Primary central nervous lymphoma (PCNSL) is a rare, aggressive, non-Hodgkin’s lymphoma. Outcomes are poor with standard induction of high-dose methotrexate (HD-MTX)-based regimens and consolidation. We present retrospective data from the Georgia Cancer Center. Methods: A single retrospective chart review was [...] Read more.

Background: Primary central nervous lymphoma (PCNSL) is a rare, aggressive, non-Hodgkin’s lymphoma. Outcomes are poor with standard induction of high-dose methotrexate (HD-MTX)-based regimens and consolidation. We present retrospective data from the Georgia Cancer Center. Methods: A single retrospective chart review was conducted on all PCNSL patients from 2013 to 2023 to assess for various factors influencing care. Results: Of a total of 38 PCNSL patients, 6 died and 2 were lost to follow-up prior to therapy initiation, leading to a total of 30 patients for analysis. The median age was 62.3 (21–82 years). One patient had HIV/AIDS. Two patients were on immunosuppression for either kidney transplant or multiple sclerosis (MS). The HIV and MS cases were Epstein-Barr Virus (EBV)-positive. Completion of ≥six cycles of induction was predictive of response. Conclusions: PCNSL remains an area of high unmet need. Recent studies have shown that HD-MTX-based therapy and autologous stem cell transplantation afterwards leads to improved outcomes regardless of age; however, non-relapse mortality is important to consider. Our data from a primarily elderly and sub-rural cohort reiterate the efficacy of combination chemoimmunotherapy and impact of induction cycle number on response, regardless of age. A multidisciplinary approach and targeted agent maintenance should be considered to improve outcomes in the elderly. Full article

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20 pages, 2489 KB

Open AccessArticle

Vitamin K Antagonists (VKAs) and Novel Oral Anticoagulants (NOACs) Safety Comparison Based on Data from EudraVigilance Database

by Pier Paolo Olimpieri, Fanny Erika Palumbo, Gaetano Giuffrida, Edoardo Milanetti, Cecilia Gozzo, Elisa Lucia Scebba, Giovanni Luca Romano, Giovanni Enrico Lombardo, Andrea Duminuco, Calogero Vetro, Davide Giuseppe Castiglione, Giuseppe Alberto Palumbo, Salvatore Scarso, Filippo Drago and Lucia Gozzo

Hematol. Rep. 2025, 17(5), 54; https://doi.org/10.3390/hematolrep17050054 - 18 Oct 2025

Abstract

Background: Clinical trials comparing novel oral anticoagulants (NOACs) with warfarin reported a lower mortality rate and a reduced incidence of bleeding with NOACs. However, these studies do not allow for final conclusions about safety. Moreover, direct comparisons among NOACs are not available. [...] Read more.

Background: Clinical trials comparing novel oral anticoagulants (NOACs) with warfarin reported a lower mortality rate and a reduced incidence of bleeding with NOACs. However, these studies do not allow for final conclusions about safety. Moreover, direct comparisons among NOACs are not available. Objectives: The aim of this study was to analyze data from EudraVigilance in order to compare OAC safety profiles. Methods: We searched for all suspected adverse drug reactions (ADRs) from OACs collected in the EudraVigilance up to March 2019. We calculated the reporting odds ratios (RORs) in order to assess the risk of reporting specific ADRs among drugs. Moreover, OAC safety profiles were investigated through correspondence analysis and visualized in contribution biplots. Results: A total of 244,149 individual case safety reports (ICSRs; 431,354 ADRs) related to OACs were retrieved from EudraVigilance. About 80% of ICSRs refer to NOACs, especially rivaroxaban. Gastrointestinal (Gastr) and central nervous system (Nerv) disorders were the most represented categories. More than 90% of ADRs were serious and almost 9% fatal, with the highest ROR reported for dabigatran. Both fatal and non-fatal ADRs reported for Vitamin K Antagonists (VKAs) differed from those reported for NOACs. Among the latter, dabigatran and rivaroxaban showed similar profiles, while apixaban differed from all other OACs, even in the case of fatal ADRs. Conclusions: As expected, data collected from EudraVigilance showed differences among drugs, probably related to their specific characteristics and/or the peculiar utilization in clinical practice. Further investigations are needed to better compare the safety profile of OACs. Full article

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9 pages, 642 KB

Open AccessArticle

Real-World Assessment of Pharmacokinetics, Clinical Outcomes, and Costs After Switching from Standard Half-Life to Extended Half-Life FVIII in Well-Controlled Hemophilia A Patients

by Maria Choví-Trull, Juan Eduardo Megías-Vericat, Santiago Bonanad-Boix, Saturnino Haya-Guaita, Ana Rosa Cid-Haro, Marta Aguilar-Rodriguez, Tomás Palanques-Pastor, Javier Garcia-Pellicer and Jose Luis Poveda-Andrés

Hematol. Rep. 2025, 17(5), 53; https://doi.org/10.3390/hematolrep17050053 - 17 Oct 2025

Abstract

Objective: This study aimed to analyze pharmacokinetic and clinical parameters (bleeding rates and joint health) before and after switching from standard half-life (SHL) factor VIII (FVIII) to extended half-life (EHL) PEGylated turoctocog alfa pegol in patients with severe/moderate hemophilia A (HA) on prophylaxis, [...] Read more.

Objective: This study aimed to analyze pharmacokinetic and clinical parameters (bleeding rates and joint health) before and after switching from standard half-life (SHL) factor VIII (FVIII) to extended half-life (EHL) PEGylated turoctocog alfa pegol in patients with severe/moderate hemophilia A (HA) on prophylaxis, one year prior to and following the switch in a real-world setting. Methods: A single-center, comparative, observational, sequential, retrospective, multidisciplinary study was designed. The population pharmacokinetic parameters were estimated using the WAPPS-Hemo^® platform. The annualized bleeding rate (including total and joint bleeds), joint health (Hemophilia Joint Health Score), FVIII consumption, administration frequency, and treatment costs were analyzed. Results: Eight patients with severe (n = 7) or moderate (n = 1) HA on prophylaxis were included after switching to turoctocog alfa pegol. With this regimen, the median FVIII half-life was 16.8 (15.2–19.1) hours, the area under the curve (AUC) was 18,182 (12,879–21,214) IU·h/dL, and the incremental recovery was 2.2 IU/dL per (1.6–2.4) IU/kg. The patients required a median of 2.0 infusions per week (2.0–2.0), corresponding to a weekly consumption of 57.8 (54.2–61.1) IU/kg. Clinically, the prophylactic regimen was associated with fewer infusions per week, stable joint health, and a reduction in overall treatment costs. Conclusions: Prophylaxis with turoctocog alfa pegol provided the expected pharmacokinetic profile of an EHL-FVIII concentrate, enabled a lower infusion frequency, and was linked to a decreased treatment burden and cost while maintaining joint health. Full article

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7 pages, 1560 KB

Open AccessCase Report

Concomitant Acquired Hemophilia A and Acquired Von Willebrand Syndrome from Distinctive Autoantibodies: Case Report

by Richard Yu, Mackenzie Bowman, Arnaud Bonnefoy, Paula James and Chai W. Phua

Hematol. Rep. 2025, 17(5), 52; https://doi.org/10.3390/hematolrep17050052 - 16 Oct 2025

Abstract

Background and Clinical Significance: Acquired hemophilia A (AHA) and acquired von Willebrand syndrome (AVWS) are rare bleeding disorders that do not often present concurrently. Here, we report a coexisting AHA and AVWS case due to underlying autoantibodies to factor VIII (FVIII) and von [...] Read more.

Background and Clinical Significance: Acquired hemophilia A (AHA) and acquired von Willebrand syndrome (AVWS) are rare bleeding disorders that do not often present concurrently. Here, we report a coexisting AHA and AVWS case due to underlying autoantibodies to factor VIII (FVIII) and von Willebrand factor (VWF). Case Presentation: A patient with gastrointestinal bleeding and prolonged aPTT was diagnosed with AHA and AVWS. The patient was started on immunosuppression with prednisone, cyclophosphamide, and intravenous immunoglobulin, alongside recombinant porcine FVIII replacement, susoctocog alfa. AVWS reduced the half-life of susoctocog alfa, requiring more frequent dosing and laboratory monitoring until AVWS resolved. The patient had two further relapses; the most recent was treated with Rituximab, following which remission has been maintained. Conclusions: Given the potential therapeutic implications, VWF testing should be considered as part of the diagnostic workup for AHA. Full article

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11 pages, 1412 KB

Open AccessArticle

Association of Cognitive Impairment with Reduced Health-Related Quality of Life and Depression Among Survivors of Thrombotic Thrombocytopenic Purpura

by Sruthi Selvakumar, Jia Yu, Jacob Meade and Shruti Chaturvedi

Hematol. Rep. 2025, 17(5), 51; https://doi.org/10.3390/hematolrep17050051 - 27 Sep 2025

Abstract

Background: Immune-mediated thrombotic thrombocytopenic purpura (iTTP) survivors exhibit increased rates of psychological comorbidities, cognitive impairment (CI), and reduced health-related quality of life (HRQoL). This cross-sectional study investigated the prevalence of CI and its association with reduced HRQoL and depression among iTTP survivors. [...] Read more.

Background: Immune-mediated thrombotic thrombocytopenic purpura (iTTP) survivors exhibit increased rates of psychological comorbidities, cognitive impairment (CI), and reduced health-related quality of life (HRQoL). This cross-sectional study investigated the prevalence of CI and its association with reduced HRQoL and depression among iTTP survivors. Methods: iTTP survivors completed the Beck Depression Inventory (BDI-II), the SF-36 for evaluation of HRQoL, and the NIH Toolbox Cognition Battery. SF-36 scores and fluid cognition and crystallized cognition composite scores from the cognition battery were compared to the reference population. We examined associations of cognitive impairment with depression and HRQoL. Results: We enrolled 47 patients with iTTP; 76.6% were female, the median age was 51 (IQR 39, 60), and the median number of episodes was 2 (1, 3.5). Compared to the reference, iTTP survivors had significantly lower mean scores in seven SF-36 domains (physical function, physical limitation, general, mental health, vitality, social functioning, and emotional limitation) as well as the mental component score (MCS) (p < 0.0001) and physical component scores (PCS) (p < 0.0001). A lower physical HRQoL score was observed in those with mild (49.3 vs. 37.7, p = 0.005) and major (49.3 vs. 38.4, p = 0.007) CI compared to no CI. The fluid cognition composite score correlated strongly with the SF-36 Physical Component Summary (r = 0.548, p = 0.0002) but not the Mental Component Summary (r = 0.113, p = 0.489). Conclusions: Cognitive impairment in iTTP survivors is associated with reduced physical HRQoL. Identifying and addressing cognitive deficits in iTTP may improve HRQoL. Given that 40% of participants had depressive symptoms, which were associated with reduced mental HRQoL, iTTP survivors may also benefit from routine mental health screening t. Full article

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11 pages, 680 KB

Open AccessReview

Acquired Hypolipoproteinemia and Hemophagocytic Lymphohistiocytosis: A Case Series and Review

by Leo Reap, Ritwick S. Mynam, Radhika Takiar and Vincent T. Ma

Hematol. Rep. 2025, 17(5), 50; https://doi.org/10.3390/hematolrep17050050 - 22 Sep 2025

Abstract

Background: Hemophagocytic lymphohistiocytosis (HLH) is a rare, life-threatening hyperinflammatory syndrome characterized by uncontrolled macrophage activation. Secondary HLH is more common in adults and may be triggered by infection, malignancy, or autoimmune disease. Dyslipidemia, particularly hypolipoproteinemia, has been described but remains underexplored. Methods: We [...] Read more.

Background: Hemophagocytic lymphohistiocytosis (HLH) is a rare, life-threatening hyperinflammatory syndrome characterized by uncontrolled macrophage activation. Secondary HLH is more common in adults and may be triggered by infection, malignancy, or autoimmune disease. Dyslipidemia, particularly hypolipoproteinemia, has been described but remains underexplored. Methods: We retrospectively reviewed 18 adult HLH cases diagnosed between 2012 and 2020 at two institutions where complete lipid profiles were obtained at or near diagnosis. HLH was defined according to HLH-2004 criteria. Results: Among 18 patients, 17 (94%) had secondary HLH, most commonly idiopathic (n = 5, 28%) or Epstein–Barr virus-associated (n = 3, 17%). Hypolipidemia was nearly universal: all (18/18) had HDL-C < 30 mg/dL, 15/18 (83%) had HDL-C < 20 mg/dL, and 12/18 (67%) had HDL-C < 10 mg/dL. LDL-C was <100 mg/dL in 12/18 (67%), with 6/18 (33%) undetectable. Triglycerides were variably elevated (median 279 mg/dL, range 96–1658 mg/dL). Three representative cases with profound hypolipoproteinemia demonstrated lipid normalization after HLH-directed therapy. Conclusions: Severe reductions in HDL-C and LDL-C appear to accompany HLH and may contribute to its pathophysiology by impairing antioxidant defenses, destabilizing membranes, and potentiating macrophage activation. This case series highlights a consistent association between hypolipoproteinemia and HLH, suggesting potential diagnostic value. However, the observational design and small cohort limit generalizability. Larger prospective studies are needed to clarify mechanisms and evaluate whether full lipid profiling should be incorporated into diagnostic algorithms. Full article

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8 pages, 1737 KB

Open AccessCase Report

The Presentation, Diagnosis, and Management of Autosomal Dominant Common Variable Immunodeficiency Type XII with NFKB1 Mutation and Autoimmune Neutropenia Treated with Allogenic Stem Cell Transplantation

by Matthew Gold, Chandini Kannan, Ashley Schofield, Alane Rogers, Charles J. Weeks, Sruthi Dontu, Joseph Suchomski, Nabil Ghani, Shawn Doss, Jacob Boccucci, Mei Zheng and Amany Keruakous

Hematol. Rep. 2025, 17(5), 49; https://doi.org/10.3390/hematolrep17050049 - 22 Sep 2025

Abstract

Background and Clinical Significance: Common Variable Immunodeficiency (CVID) is a prevalent manifestation of primary immunodeficiency disorder. The current mainstay of treatment is immunoglobulin replacement therapy; however, in patients with severe complications or refractory disease, hematopoietic stem cell transplant (HSCT) is indicated. Despite this, [...] Read more.

Background and Clinical Significance: Common Variable Immunodeficiency (CVID) is a prevalent manifestation of primary immunodeficiency disorder. The current mainstay of treatment is immunoglobulin replacement therapy; however, in patients with severe complications or refractory disease, hematopoietic stem cell transplant (HSCT) is indicated. Despite this, there has been little research regarding HSCT as a treatment for CVID, with few case reports demonstrating clinical benefit. Case presentation: We present a unique case of common variable immunodeficiency Type XII (CVID12) with rare NFKB mutation and its management. A 20-year-old female with autoimmune alopecia, eczema, and a congenital atrophic right kidney presented to the emergency department with a three-month history of intermittent fever, malaise, lymphadenopathy, mouth sores, diarrhea, and odynophagia, accompanied by a 5 lb. unintentional weight loss and night sweats. Previously, she received multiple steroid prescriptions for these symptoms, providing only temporary relief with each course. Lab findings revealed severe neutropenia and imaging demonstrated hepatosplenomegaly and lymphadenopathy. Flow cytometry revealed a slightly atypical CD8-positive T-cell population and bone marrow biopsy revealed variable cellular marrow with trilineage hematopoiesis. Genetic testing confirmed the diagnosis of Autosomal Dominant Common Variable Immunodeficiency Type XII with an NFKB1 mutation. Pre-transplant treatments included monthly IVIG, weekly rituximab, and daily filgrastim, all of which failed to improve her autoimmune neutropenia and hypogammaglobulinemia and failed to reduce her symptomatic burden. Given the patient’s young age and refractory autoimmune neutropenia, it was decided to manage them definitively with hematopoietic stem cell transplantation (HSCT). She ultimately underwent allogenic stem cell transplantation (haploidentical, donor was the mother) with 3.96 × 10⁸/kg TNC without immediate post-transplant complications. Conclusions: This article demonstrates a rare case of NFKB1-positive CVID that was successfully treated with HSCT and highlights the importance of considering transplant therapy in younger patients with clinically significant, refractory autoimmune cytopenia. Full article

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12 pages, 225 KB

Open AccessReview

Haematologists as Genetic Counsellors for Haemoglobinopathies: Are They Prepared?

by Michael Angastiniotis and Androulla Eleftheriou

Hematol. Rep. 2025, 17(5), 48; https://doi.org/10.3390/hematolrep17050048 - 15 Sep 2025

Abstract

Background/Objectives: In haematology, a wide range of blood disorders are hereditary. The thalassaemias are hereditary anaemias characterised by a high burden of disease at the public health level, challenging the resources of many health systems. This review focuses on thalassaemias for which [...] Read more.

Background/Objectives: In haematology, a wide range of blood disorders are hereditary. The thalassaemias are hereditary anaemias characterised by a high burden of disease at the public health level, challenging the resources of many health systems. This review focuses on thalassaemias for which many countries have developed screening and prevention programmes. To manage this heavy burden, two approaches were introduced over the years. The first one focused on reducing the annual affected births consequent to appropriate non-directive genetic counselling, offering to the parents the chance to make an informed choice concerning their reproductive lives. The second approach was related to the development of curative treatments such as haematopoietic stem cell transplantation (HSCT) in the early years, with continued ongoing efforts for improvements, followed by successful advances in gene-based holistic cures in more recent years. Genetic counselling is a vital component in successful prevention, aiming at informing individuals who are found to be carriers and couples who are both carriers with a 25% risk at every pregnancy of having an affected child in the case of recessive, Mendelian inheritance. The issues are many, and that may have to be discussed, highlighting the level of skills which a genetic counsellor is expected to possess and utilise appropriately in every counselling session. The concern is that such trained and skilled professionals are few in number and not well integrated into the multidisciplinary groups addressing the control of these complex disorders. It is our experience that for blood disorders, counselling is rarely in the hands of qualified scientists. It is our firm belief that it is necessary to incorporate genetic counselling as an integral part of haematology services. Methods: To investigate current practices we have drawn on the experience of existing programmes, as well as published literature. Results: Currently, in almost all haemoglobinopathy prevention programmes, counselling is offered by the clinicians in charge of clinical care or, in some settings, by the nurse of the clinic or the screening laboratory scientist. Conclusions: The Thalassaemia International Federation suggests and is in the process of developing special training in counselling as part of haematology training, as well as professional development modules for those already in practice. Considering the complexity of the issues that must be discussed, a multidisciplinary approach to counselling should be considered where possible. Full article

(This article belongs to the Special Issue Anaemia in Focus: Challenges and Solutions in Haematology)

8 pages, 496 KB

Open AccessCase Report

Tyrosine Kinase Inhibitor Treatment of a Patient with Chronic Myeloid Leukemia and Congenital Thrombophilia

by Carol Herrera-Hernández, Adrián Segura-Diaz, Ruth Stuckey, Juan Francisco López-Rodríguez and María Teresa Gómez-Casares

Hematol. Rep. 2025, 17(5), 47; https://doi.org/10.3390/hematolrep17050047 - 12 Sep 2025

Abstract

Background and Clinical Significance: Chronic Myeloid Leukemia (CML) management has been revolutionized by tyrosine kinase inhibitors (TKIs), though cardiovascular and thrombotic complications remain a concern, especially in patients with underlying risk factors. Inherited thrombophilia, including protein S deficiency and Factor V Leiden mutation, [...] Read more.

Background and Clinical Significance: Chronic Myeloid Leukemia (CML) management has been revolutionized by tyrosine kinase inhibitors (TKIs), though cardiovascular and thrombotic complications remain a concern, especially in patients with underlying risk factors. Inherited thrombophilia, including protein S deficiency and Factor V Leiden mutation, poses a substantial risk for venous thromboembolism (VTE). Managing CML in patients with such prothrombotic predispositions presents complex therapeutic challenges, particularly in selecting an appropriate TKI and managing anticoagulation. Case Presentation: A 33-year-old woman with congenital thrombophilia (type I protein S deficiency and heterozygous Factor V Leiden mutation) and a history of VTE on long-term anticoagulation with acenocoumarol presented with CML. She exhibited primary resistance to first-line imatinib and poor tolerance with suboptimal response to second-line bosutinib. Third-line treatment with asciminib led to a rapid and sustained major molecular response (MR4.5) without bleeding or thrombotic complications. Conclusions: This case highlights the importance of individualized, multidisciplinary management in CML patients with coexisting thrombophilia. Asciminib, with its favorable cardiovascular safety profile, represents a promising therapeutic option in high-risk patients where other TKIs may be contraindicated due to resistance, intolerance, or thrombotic risk. Full article

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14 pages, 1311 KB

Open AccessFeature PaperArticle

Prolonged Hematogone Expansion Is Associated with Better Outcomes in Allogeneic Hematopoietic Stem Cell Transplantation Recipients

by Bianca Serio, Danilo De Novellis, Marisa Gorrese, Angela Bertolini, Paola Manzo, Francesca Picone, Anna Maria Della Corte, Rossella Marcucci, Denise Morini, Michela Rizzo, Roberto Guariglia, Serena Luponio, Pasqualina Scala, Francesco Verdesca, Anna Maria Sessa, Francesca Velino, Martina De Leucio, Maddalena Langella, Valentina Giudice and Carmine Selleri

Hematol. Rep. 2025, 17(5), 46; https://doi.org/10.3390/hematolrep17050046 - 10 Sep 2025

Abstract

Background/Objectives: Hematogones, B cell precursors, are considered a clock of bone marrow reconstitution after chemotherapy and hematopoietic stem cell transplantation (HSCT). Methods: In this retrospective observational monocentric study, we investigated the prognostic role of hematogone expansion after allogeneic HSCT and its [...] Read more.

Background/Objectives: Hematogones, B cell precursors, are considered a clock of bone marrow reconstitution after chemotherapy and hematopoietic stem cell transplantation (HSCT). Methods: In this retrospective observational monocentric study, we investigated the prognostic role of hematogone expansion after allogeneic HSCT and its association with clinical and molecular features. Results: Using a cut-off value of 0.1%, hematogones were detected in 60% of patients at the first re-evaluation after HSCT (median, 2.4%; range, 0.2–9.0%) and in 63% of subjects at the most recent evaluation (MRR) (median, 1.4%; range, 0.1–5.1%). In particular, prolonged hematogone expansion was associated with longer overall survival (p = 0.0043) and relapse-free survival (p = 0.0002). No associations were described between hematogone frequency and stem cell sources or acute or chronic graft versus host disease incidence. Conclusions: In conclusion, our results confirmed that hematogones mirrored bone marrow fitness and reconstitution ability; thus, they could be used as a prognostic marker of HSCT outcomes. Full article

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11 pages, 564 KB

Open AccessArticle

Interplay Between Sickle Cell Disease and Thrombosis: A Single Center Experience of Pathophysiology and Potential Risk Factors

by Rafail Tzanninis, Efthymia Vlachaki, Eleftheria Lefkou, Stavroula Tsiara, Stamatia Theodoridou, Athanasios Vyzantiadis and Miltiadis Matsagkas

Hematol. Rep. 2025, 17(5), 45; https://doi.org/10.3390/hematolrep17050045 - 3 Sep 2025

Abstract

Background: Sickle cell disease (SCD) is among the most prevalent inherited hemoglobinopathies and is strongly associated with numerous coagulation abnormalities, hence constituting a severe hypercoagulable state. Methods: We conducted a single-center retrospective observational study of patients with SCD who were monitored at [...] Read more.

Background: Sickle cell disease (SCD) is among the most prevalent inherited hemoglobinopathies and is strongly associated with numerous coagulation abnormalities, hence constituting a severe hypercoagulable state. Methods: We conducted a single-center retrospective observational study of patients with SCD who were monitored at Hippokration Hospital of Thessaloniki between 1999 and 2024. Demographic characteristics, hemoglobin (Hb) genotype, medical history, anticoagulant and antiplatelet therapy, dosage of anticoagulant treatment, recurrence of the first episode of venous thromboembolism (VTE) and relevant laboratory values were examined as possible risk factors. Results: Among 46 patients, 12 (26.1%) developed thrombosis with the majority (75%) carrying the HbS/β-thal genotype. The prevalence of VTE in this study was 17.4%. Variables significantly associated with an increased risk of thrombosis included age at the time of thrombosis, patient age, use of anticoagulant treatment, anticoagulant dosage, antiplatelet therapy and type of transfusion (p < 0.05). On multivariate analysis, anticoagulant treatment and its dosage retained statistical significance (p < 0.05). Conclusions: These findings reinforce the strong association between SCD and thrombotic events. Despite the availability of a broad therapeutic armamentarium and increasing knowledge of the underlying disease mechanisms, the prevention and management of thrombosis in these patients remains a challenge. Full article

(This article belongs to the Special Issue Anaemia in Focus: Challenges and Solutions in Haematology)

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11 pages, 556 KB

Open AccessReview

Spontaneous Muscle Bleeding During Oral Anticoagulation Therapy: When Should We Suspect an Underlying Tumor?

by Antonella Mameli, Francesco Marongiu, Mauro Podda, Adolfo Pisanu and Doris Barcellona

Hematol. Rep. 2025, 17(5), 44; https://doi.org/10.3390/hematolrep17050044 - 31 Aug 2025

Abstract

Spontaneous intramuscular hematomas (SMHs) are rare but potentially serious complications of oral anticoagulation therapy. Although often attributed solely to anticoagulant use, such lesions may mask underlying soft tissue sarcomas or paraneoplastic conditions. We report the case of an 80-year-old man on warfarin who [...] Read more.

Spontaneous intramuscular hematomas (SMHs) are rare but potentially serious complications of oral anticoagulation therapy. Although often attributed solely to anticoagulant use, such lesions may mask underlying soft tissue sarcomas or paraneoplastic conditions. We report the case of an 80-year-old man on warfarin who presented with a painful thigh mass initially interpreted as a hematoma but ultimately diagnosed as a malignant fibrous histiocytoma (MFH). In addition, we provide a narrative review of published cases, focusing on clinical presentation, diagnostic challenges, imaging strategies, and outcomes. Key pitfalls leading to delayed diagnosis include attribution bias, inadequate imaging, and premature management decisions. Epidemiological data show that while the incidence of SMHs is estimated at 0.5–1.5% among patients on vitamin K antagonists, clinically significant cases are increasingly reported with direct oral anticoagulants (DOACs). Suggested measures include clinical algorithms to prompt imaging and biopsy in persistent masses, validation of magnetic resonance imaging (MRI) criteria, and the establishment of prospective registries, aimed at facilitating earlier recognition of malignant lesions and improving patient outcomes. These strategies may improve early detection of malignancy and optimize care in anticoagulated patients presenting with soft tissue lesions. Full article

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12 pages, 3806 KB

Open AccessCase Report

Case-Based Insights into Enteropathy-Associated T-Cell Lymphoma—Single-Center Experience

by Marija Elez, Lavinika Atanasković, Svetlana Mirosavljević, Mihailo Bezmarević, Dragan Živojinović, Radoslav Romanović, Jelena Djekić and Predrag Krstić

Hematol. Rep. 2025, 17(5), 43; https://doi.org/10.3390/hematolrep17050043 - 27 Aug 2025

Abstract

Background: Enteropathy-associated T-cell lymphoma (EATL) is a rare subtype of mature T-cell lymphoma, accounting for fewer than 5% of peripheral T-cell lymphomas, with an aggressive course and poor prognosis. There are two types of this disease based on morphology and immunophenotype: type I, [...] Read more.

Background: Enteropathy-associated T-cell lymphoma (EATL) is a rare subtype of mature T-cell lymphoma, accounting for fewer than 5% of peripheral T-cell lymphomas, with an aggressive course and poor prognosis. There are two types of this disease based on morphology and immunophenotype: type I, which is often, but not always, associated with celiac disease (classic EATL), and type 2, monomorphic epitheliotropic intestinal T-cell lymphoma (MEITL). Risk factors for classic EATL are poor adherence to a gluten-free diet, advanced age, male sex, and HLA-DQ2 homozygosity. The treatment options include surgery and various chemotherapy regimens with autologous stem cell transplantation, but the outcomes are discouraging, and clinical trials with targeted and biologic therapies are needed. Case Presentation: We report three cases of type 1 EATL, all with lethal outcomes, with one patient dying during initial treatment, one dying following several surgical interventions and without waiting to start chemotherapy, and one dying following a good treatment response but with severe infection. Full article

(This article belongs to the Special Issue Innovations in Hematologic Oncology: SOHO Italy Perspectives)

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11 pages, 973 KB

Open AccessArticle

Reversible Platelet Aggregation Induced by Low-Temperature Storage in Heparinized Whole Blood Samples

by Yuriko Hayashi, Manato Miyazaki, Ryusuke Kimura, Ririka Arai, Miu Takada, Ayuko Takahashi and Hirokazu Kimura

Hematol. Rep. 2025, 17(5), 42; https://doi.org/10.3390/hematolrep17050042 - 22 Aug 2025

Abstract

Background/Objectives: Platelet counts can be affected by storage conditions, potentially leading to pseudothrombocytopenia. The present study aimed to investigate temperature-dependent changes in platelet counts and morphology in whole blood samples anticoagulated with heparin or EDTA. We also examined the molecular mechanism of [...] Read more.

Background/Objectives: Platelet counts can be affected by storage conditions, potentially leading to pseudothrombocytopenia. The present study aimed to investigate temperature-dependent changes in platelet counts and morphology in whole blood samples anticoagulated with heparin or EDTA. We also examined the molecular mechanism of cold-induced aggregation via integrin GPIIb/IIIa–fibrinogen interaction using established bioinformatics technologies (docking simulation). Methods: Peripheral blood was collected from healthy volunteers (n = 6) and treated with either heparin or EDTA. The samples were stored at 4 °C, room temperature, or incubated at 37 °C. Platelet counts were measured using an automated hematology analyzer. The morphology of various blood cells in smears was assessed using the May-Grünwald Giemsa staining method. Docking simulations using an available software (HADDOCK 2.4) were performed to evaluate integrin–fibrinogen binding at different temperatures. Results: In automated blood cell counting, platelet counts in heparinized blood were significantly decreased under low-temperature conditions (4 °C), but this decrease was restored to levels comparable to those at room temperature upon warming to 37 °C (p < 0.05). No significant changes were observed in EDTA-treated samples. Microscopical findings showed platelet aggregation only in heparinized samples at 4 °C, with normal morphology restored upon warming (37 °C). Docking simulations estimated stronger integrin GPIIb/IIIa–fibrinogen binding at 4 °C than at 37 °C (p = 0.0286), suggesting temperature-dependent enhancement of molecular interactions. Conclusions: These findings indicate that heparin can induce reversible platelet aggregation at low temperatures in whole blood samples, leading to pseudothrombocytopenia. This phenomenon may be mediated by increased integrin GPIIb/IIIa–fibrinogen binding. Full article

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14 pages, 499 KB

Open AccessCase Report

Advantages of FVIII-Extended Half-Life (Turoctocog Alfa Pegol) in the Management of Cardiac Surgery in a Patient with Mild Hemophilia A: A Case Report and Literature Review

by Angela Napolitano, Andrea Venturini, Mauro Ronzoni, Graziella Saggiorato, Paolo Simioni and Ezio Zanon

Hematol. Rep. 2025, 17(4), 41; https://doi.org/10.3390/hematolrep17040041 - 6 Aug 2025

Abstract

Background and Clinical Significance: Hemophilia A presents a considerable challenge in cardiac surgery due to the elevated risk of perioperative bleeding, particularly during procedures involving cardiopulmonary bypass. Standard management typically involves standard half-life (SHL) factor VIII (FVIII) concentrates, which require frequent dosing. Extended [...] Read more.

Background and Clinical Significance: Hemophilia A presents a considerable challenge in cardiac surgery due to the elevated risk of perioperative bleeding, particularly during procedures involving cardiopulmonary bypass. Standard management typically involves standard half-life (SHL) factor VIII (FVIII) concentrates, which require frequent dosing. Extended half-life (EHL) FVIII products offer theoretical advantages, including prolonged action and reduced infusion frequency, but their use in cardiac surgery remains largely undocumented. Case Presentation: We report the case of a 73-year-old male with mild Hemophilia A who underwent successful aortic valve replacement using a 25 mm Carpentier-Edwards Magna Ease biological prosthesis. The patient was managed perioperatively with an anti-hemorrhagic protocol based on EHL recombinant FVIII. The surgery and postoperative course were uneventful, with no bleeding complications or need for transfusion. Conclusions: This case illustrates the potential role of EHL FVIII in safely managing hemophilic patients undergoing major cardiac surgery. Given the lack of existing reports in the literature, further studies are warranted to evaluate the efficacy and safety of EHL FVIII in this setting and to potentially optimize perioperative care protocols for this patient population. Full article

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8 pages, 2701 KB

Open AccessCase Report

A Drop of Blood to Lead the Way

by Theodora A. M. Claushuis, Marielle J. Wondergem, Henriette B. Beverloo, Marise R. Heerma van Voss, Remco J. Molenaar, Maud Zwolsman, Fleur M. van der Valk, Hans L. Mooij, Lianne Koens and Sanne H. Tonino

Hematol. Rep. 2025, 17(4), 40; https://doi.org/10.3390/hematolrep17040040 - 5 Aug 2025

Abstract

Background and Significances: In patients with Epstein–Barr virus-driven hemophagocytic lymphohistiocytosis (EBV-HLH), identifying the underlying cause poses a significant diagnostic challenge. HLH may precede overt disease, and early directed treatment for HLH can obscure histopathological findings. A liquid biopsy enables the detection of tumor-derived [...] Read more.

Background and Significances: In patients with Epstein–Barr virus-driven hemophagocytic lymphohistiocytosis (EBV-HLH), identifying the underlying cause poses a significant diagnostic challenge. HLH may precede overt disease, and early directed treatment for HLH can obscure histopathological findings. A liquid biopsy enables the detection of tumor-derived DNA from various sources, including cell-free DNA, circulating tumor cells, extracellular vesicles, and tumor-educated platelets, and might aid in this setting. Case Presentation: This case presents a young patient with EBV-HLH, in which genomic analysis of tumor-derived DNA from circulating tumor cells led to the diagnosis of an EBV-positive NK/T-cell lymphoma—where conventional tissue biopsies had failed. Conclusions: This report underscores the potential of the liquid biopsy as a valuable diagnostic tool in complex cases of EBV-HLH. Full article

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