Hematology Reports

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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11 pages, 219 KB

Open AccessArticle

TKI Use and Treatment-Free Remission in Chronic Myeloid Leukemia: Evidence from a Regional Cohort Study in the Canary Islands

by Santiago Sánchez-Sosa, Ruth Stuckey, Adrián Segura Díaz, José David González San Miguel, Ylenia Morales Ruiz, Sunil Lakhawani Lakhawani, Jose María Raya Sánchez, Melania Moreno Vega, María Tapia Torres, Pilar López-Coronado, María de las Nieves Saez Perdomo, Marta Fernández, Cornelia Stoica, Cristina Bilbao Sieyro and María Teresa Gómez Casares

Hematol. Rep. 2025, 17(4), 39; https://doi.org/10.3390/hematolrep17040039 - 4 Aug 2025

Abstract

Background/Objectives: The advent of tyrosine kinase inhibitors (TKIs) revolutionized the management of chronic myeloid leukemia (CML), achieving survival rates near those of the general population. Despite this success, prolonged therapy presents challenges, including physical, emotional, and financial burdens. Treatment-free remission (TFR), defined [...] Read more.

Background/Objectives: The advent of tyrosine kinase inhibitors (TKIs) revolutionized the management of chronic myeloid leukemia (CML), achieving survival rates near those of the general population. Despite this success, prolonged therapy presents challenges, including physical, emotional, and financial burdens. Treatment-free remission (TFR), defined as sustained deep molecular response (DMR) after discontinuing TKIs, has emerged as a viable clinical goal. This study evaluates real-world data from the Canary Islands Registry of CML (RCLMC) to explore outcomes, predictors, and the feasibility of TFR. Methods: This retrospective observational study included 393 patients diagnosed with CML-CP between 2007 and 2023. Molecular response was monitored according to international guidelines. Survival probabilities were estimated using the Kaplan–Meier method. Logistic regression analysis was performed to identify predictors of molecular relapses after TKI discontinuation. Results: Of the 383 patients who received TKI treatment, 58.3% achieved molecular response grade 2 (MR2) (BCR-ABL1 ≤ 1%), 95.05% achieved MR2, and 50.5% reached MR4 within the first year. Of the 107 patients attempting TFR, 73.2% maintained remission at 36 months. Relapses occurred in 24 patients, all regaining molecular response upon reintroduction of TKIs. No cases of disease progression were observed. Conclusions: Our findings support the feasibility and safety of TFR in a real-world clinical setting for well-selected patients, with outcomes consistent with international studies. The study underscores the importance of molecular monitoring and patient-specific strategies to optimize outcomes. Full article

11 pages, 526 KB

Open AccessArticle

Prognostic Factors for 28-Day Mortality in Pediatric Patients with Acute Leukemia and Candidemia Following Intensive Chemotherapy: A Retrospective Study

by Tran Thi Kieu My, Hoang Thi Hong, Mai Lan, Tran Quynh Mai, Dang Hoang Hai and Ta Thi Dieu Ngan

Hematol. Rep. 2025, 17(4), 38; https://doi.org/10.3390/hematolrep17040038 - 30 Jul 2025

Abstract

Background/Objective: Candidemia is a serious complication following intensive chemotherapy and is associated with high mortality in pediatric patients. This study aimed to identify the factors associated with 28-day mortality in pediatric patients with candidemia. Methods: We retrospectively analyzed 63 pediatric patients diagnosed with [...] Read more.

Background/Objective: Candidemia is a serious complication following intensive chemotherapy and is associated with high mortality in pediatric patients. This study aimed to identify the factors associated with 28-day mortality in pediatric patients with candidemia. Methods: We retrospectively analyzed 63 pediatric patients diagnosed with acute leukemia and candidemia following intensive chemotherapy. Clinical characteristics, laboratory findings, and epidemiological data were collected. Antifungal susceptibility data were available for 60 patients. Kaplan–Meier survival analysis was used to estimate the 28-day mortality rate, and Cox regression was performed to identify prognostic factors. Results: The 28-day mortality rate among the 63 patients (57.1% male, median age 9.74 years) was 36.5%. Candida tropicalis was the predominant species (96.8%). Antifungal susceptibility rates were 100% for amphotericin B and caspofungin and 22.2% for fluconazole. The factors independently associated with reduced 28-day mortality were an absolute lymphocyte count (ALC) ≥ 0.2 G/L at the time of candidemia diagnosis (5.3% vs. 50% mortality; hazard ratio [HR] = 0.08; 95% confidence interval [CI], 0.01–0.61), the use of antifungal prophylaxis (AFP) (26.3% vs. 52%; HR 0.31; 95% CI, 0.13–0.74), and granulocyte transfusion (GTX) combined with granulocyte colony-stimulating factor (G-CSF) (20% vs. 47.4%; HR = 0.31; 95% CI, 0.11–0.85). Conclusions: Our findings suggest that an ALC ≥ 0.2 G/L, AFP, and the administration of a GTX combined with G-CSF may be considered favorable prognostic factors. Full article

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6 pages, 454 KB

Open AccessCase Report

ANKRD26 Gene Mutation and Thrombocytopenia—Is the Risk of Malignancy Dependent on the Mutation Variant?

by Eirik B. Tjønnfjord, Kristian Tveten, Signe Spetalen and Geir E. Tjønnfjord

Hematol. Rep. 2025, 17(4), 37; https://doi.org/10.3390/hematolrep17040037 - 24 Jul 2025

Abstract

Background and Clinical Significance: Inherited thrombocytopenia (IT) is a heterogeneous group of disorders caused by mutations in over 45 genes. Among these, ANKRD26-related thrombocytopenia (ANKRD26-RT) accounts for a notable subset and is associated with variable bleeding tendencies and an increased risk of myeloid [...] Read more.

Background and Clinical Significance: Inherited thrombocytopenia (IT) is a heterogeneous group of disorders caused by mutations in over 45 genes. Among these, ANKRD26-related thrombocytopenia (ANKRD26-RT) accounts for a notable subset and is associated with variable bleeding tendencies and an increased risk of myeloid malignancies. However, the extent of this oncogenic risk appears to vary between specific gene variants. Understanding the genotype–phenotype relationship is essential for patient counseling and management. This report presents a multigenerational family carrying the rare c.−118C > G variant in the 5′ untranslated region of ANKRD26, contributing to the discussion on variant-specific cancer predisposition. Case Presentation: Two sisters aged 57 and 60 presented with lifelong bleeding diathesis and moderate thrombocytopenia. Their symptoms included easy bruising, menorrhagia, and excessive postoperative bleeding. Genetic testing confirmed heterozygosity for the ANKRD26 c.−118C > G variant. Bone marrow analysis revealed abnormal megakaryopoiesis without evidence of dysplasia or somatic mutations. One sister underwent major surgery without complications when managed with prophylactic hemostatic therapy. Their family history included multiple female relatives with similar symptoms, although formal testing was limited. Notably, none of the affected individuals developed hematologic malignancy, and only one developed esophageal cancer, with no current evidence linking this variant to solid tumors. Conclusions: This case underscores the importance of distinguishing between ANKRD26 variants when assessing malignancy risk. While ANKRD26-RT is associated with myeloid neoplasms, the c.−118C > G variant may confer a lower oncogenic potential. Variant-specific risk stratification and genetic counseling are crucial for optimizing surveillance and avoiding unnecessary interventions in low-risk individuals. Full article

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8 pages, 1550 KB

Open AccessCase Report

Diagnostic Challenges in Acute Leukemia: From Dental Pain to Catastrophic Intracerebral Hemorrhage

by Anatoli Pinchuk, Stefan P. Roch, Christian Mawrin, Daniel Behme, Klaus-Peter Stein, Belal Neyazi, Martin Mikusko, Ibrahim Erol Sandalcioglu and Ali Rashidi

Hematol. Rep. 2025, 17(4), 36; https://doi.org/10.3390/hematolrep17040036 - 23 Jul 2025

Abstract

Background and Clinical significance: Acute leukemias are neoplasms of the hematopoietic system that are caused by the extensive proliferation of immature precursor cells (‘blasts’), mainly in the bone marrow. They frequently manifest with vague and non-specific clinical symptoms, making early diagnosis particularly [...] Read more.

Background and Clinical significance: Acute leukemias are neoplasms of the hematopoietic system that are caused by the extensive proliferation of immature precursor cells (‘blasts’), mainly in the bone marrow. They frequently manifest with vague and non-specific clinical symptoms, making early diagnosis particularly challenging. Case Presentation: This case report describes the clinical course of a female patient who initially sought dental care due to a persistent toothache—an atypical and misleading symptom. Subsequent investigations revealed a diagnosis of acute leukemia. Although the malignancy was identified promptly and the appropriate therapeutic measures were initiated, the disease progressed with alarming rapidity. The patient ultimately developed a massive intracerebral hemorrhage—a devastating complication likely related to leukemia-associated coagulopathy. Despite emergent neurosurgical intervention, the hemorrhage proved fatal. Conclusions: This case highlights the critical need for heightened clinical suspicion in the presence of unusual symptoms and illustrates the complex interplay between hematologic malignancies and coagulopathic complications. Full article

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8 pages, 726 KB

Open AccessCase Report

Anemia Due to Unexpected Zinc-Induced Copper Deficiency

by Nicholas Chun, Shehla Aman, Dan Xu, Jun Wang, Craig Zuppan and Albert Kheradpour

Hematol. Rep. 2025, 17(4), 35; https://doi.org/10.3390/hematolrep17040035 - 17 Jul 2025

Abstract

Anemia due to acquired copper deficiency is most commonly the result of malabsorption or dietary deficiency. However, it can occasionally be due to excess zinc intake, which impairs the absorption of copper. Copper deficiency may result in vacuolated erythroid and myeloid precursors in [...] Read more.

Anemia due to acquired copper deficiency is most commonly the result of malabsorption or dietary deficiency. However, it can occasionally be due to excess zinc intake, which impairs the absorption of copper. Copper deficiency may result in vacuolated erythroid and myeloid precursors in the bone marrow, and sometimes features resembling myelodysplasia that, although not specific, may be an important clue to the diagnosis. Background and Clinical Significance: We report bone marrow findings in a child with anemia due to zinc-induced copper deficiency. Case Presentation: An 18-year-old female with cerebral palsy admitted for respiratory failure was found to have anemia and leukopenia with absolute neutropenia. A bone marrow smear showed occasional ring sideroblasts. Additional testing revealed reduced serum copper and elevated serum zinc. Further inquiry uncovered a several-year history of high-dose zinc supplementation. Conclusions: It is important to consider copper deficiency as a potential etiology in patients with anemia and neutropenia, as it may otherwise be mistaken for vitamin B12 deficiency or myelodysplasia. The presence of small vacuoles in hematopoietic precursors is an important clue to the diagnosis and may help avoid ineffective interventions. Full article

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

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9 pages, 550 KB

Open AccessCase Report

Psychotic Disorder Secondary to Cerebral Venous Thrombosis Caused by Primary Thrombophilia in a Pediatric Patient with Protein S Deficiency and an MTHFR p.Ala222Val Variant: A Case Report

by Darío Martínez-Pascual, Alejandra Dennise Solis-Mendoza, Jacqueline Calderon-García, Bettina Sommer, Eduardo Calixto, María E. Martinez-Enriquez, Arnoldo Aquino-Gálvez, Hector Solis-Chagoyan, Luis M. Montaño, Bianca S. Romero-Martinez, Ruth Jaimez and Edgar Flores-Soto

Hematol. Rep. 2025, 17(4), 34; https://doi.org/10.3390/hematolrep17040034 - 3 Jul 2025

Abstract

Background and Clinical Significance: Herein, we describe the clinical case of a 17-year-old patient with psychotic disorder secondary to cerebral venous thrombosis due to primary thrombophilia, which was related to protein S deficiency and a heterozygous MTHFR gene mutation with the p.Ala222Val variant. [...] Read more.

Background and Clinical Significance: Herein, we describe the clinical case of a 17-year-old patient with psychotic disorder secondary to cerebral venous thrombosis due to primary thrombophilia, which was related to protein S deficiency and a heterozygous MTHFR gene mutation with the p.Ala222Val variant. Case presentation: A 17-year-old female, with no history of previous illnesses, was admitted to the emergency service department due to a psychotic break. Psychiatric evaluation detected disorganized thought, euphoria, ideas that were fleeting and loosely associated, psychomotor excitement, and deviant judgment. On the fifth day, an inflammatory process in the parotid gland was detected, pointing out a probable viral meningoencephalitis, prompting antiviral and antimicrobial treatment. One week after antiviral and steroidal anti-inflammatory treatments, the symptoms’ improvement was minimal, which led to further neurological workup. MRI venography revealed a filling defect in the transverse sinus, consistent with cerebral venous thrombosis. Consequently, anticoagulation treatment with enoxaparin was initiated. The patient’s behavior improved, revealing that the encephalopathic symptoms were secondary to thrombosis of the venous sinus. Hematological studies indicated the cause of the venous sinus thrombosis was a primary thrombophilia caused by a heterozygous MTHFR mutation variant p.Ala222Val and a 35% decrease in plasmatic protein S. Conclusions: This case highlights the possible relationship between psychiatric and thrombotic disorders, suggesting that both the MTHFR mutation and protein S deficiency could lead to psychotic disorders. Early detection of thrombotic risk factors in early-onset psychiatric disorders is essential for the comprehensive management of patients. Full article

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7 pages, 606 KB

Open AccessCase Report

Secondary Hemophagocytic Lymphocytosis in Inflammatory Bowel Disease

by Jacob Boccucci, Ramalakshmi Thulluri, Chandini Kannan, Matthew Gold and Vamsi Kota

Hematol. Rep. 2025, 17(4), 33; https://doi.org/10.3390/hematolrep17040033 - 30 Jun 2025

Abstract

Background and Clinical Significance: Hemophagocytic lymphohistiocytosis (HLH) is a rare and life-threatening condition that can go underdiagnosed due to overlapping features with severe infections. While the use of thiopurine in inflammatory bowel disease (IBD) has been associated with HLH, the majority of these [...] Read more.

Background and Clinical Significance: Hemophagocytic lymphohistiocytosis (HLH) is a rare and life-threatening condition that can go underdiagnosed due to overlapping features with severe infections. While the use of thiopurine in inflammatory bowel disease (IBD) has been associated with HLH, the majority of these patients will have a concurrent Epstein–Barr virus (EBV) infection. Case Presentation: This report presents a case of HLH in a patient previously treated with aza-thioprine for IBD without concurrent viral infection. Full article

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13 pages, 256 KB

Open AccessReview

Solitary Plasmacytomas: Current Status in 2025

by Uğur Hatipoğlu, Mert Seyhan, Turgay Ulas, Mehmet Sinan Dal and Fevzi Altuntaş

Hematol. Rep. 2025, 17(4), 32; https://doi.org/10.3390/hematolrep17040032 - 30 Jun 2025

Abstract

Solitary plasmacytoma refers to a neoplastic, clonal proliferation of plasma cells forming a single mass. They are divided based on their origin site; solitary bone plasmacytomas originate from the bones, and extramedullary plasmacytomas represent extraosseous tumors. These are rare tumors but carry a [...] Read more.

Solitary plasmacytoma refers to a neoplastic, clonal proliferation of plasma cells forming a single mass. They are divided based on their origin site; solitary bone plasmacytomas originate from the bones, and extramedullary plasmacytomas represent extraosseous tumors. These are rare tumors but carry a risk of transforming to multiple myeloma; thus, optimal management and meticulous follow-up are needed. Their rarity poses a major challenge in conducting large-scale clinical trials, leaving important gaps in evidence regarding best practices. Newer imaging techniques have improved the quality of staging, management decisions, and outcomes. Radiation still has a significant role in treatment algorithms, and adjuvant chemotherapy is gaining more importance; trials are underway in this area. Follow-up should contain biochemical tests as the proposed response definition criteria. We aimed to review the key studies and guidelines in this paper. Full article

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

17 pages, 288 KB

Open AccessReview

Uncommon Entities, Uncommon Challenges: A Review of Rare Plasma Cell Disorders

by Amr Hanbali, Abdullah Alamer and Saud Alhayli

Hematol. Rep. 2025, 17(4), 31; https://doi.org/10.3390/hematolrep17040031 - 27 Jun 2025

Abstract

Rare plasma cell disorders—including IgD, IgE, and IgM multiple myeloma, non-secretory myeloma (NSMM), plasma cell leukemia (PCL), and heavy chain disease (HCD)—are biologically heterogeneous and often present with atypical features and aggressive behavior. This review synthesizes current evidence on their epidemiology, pathophysiology, diagnosis, [...] Read more.

Rare plasma cell disorders—including IgD, IgE, and IgM multiple myeloma, non-secretory myeloma (NSMM), plasma cell leukemia (PCL), and heavy chain disease (HCD)—are biologically heterogeneous and often present with atypical features and aggressive behavior. This review synthesizes current evidence on their epidemiology, pathophysiology, diagnosis, and treatment. Advances in proteasome inhibitors, immunomodulatory agents, and autologous transplantation have improved outcomes in select subtypes. However, challenges persist in distinguishing IgM myeloma from Waldenström macroglobulinemia, monitoring non-secretory disease, and treating highly aggressive forms such as IgE myeloma and PCL. Standardized diagnostic criteria and prospective trials are essential to guide future management. Full article

8 pages, 475 KB

Open AccessCase Report

Ceftriaxone-Induced Pancytopenia: A Case Report

by Edin Karisik, Zorica Stanojevic-Ristic, Marija Jevtic, Julijana Rasic, Miljana Maric and Milica Popovic

Hematol. Rep. 2025, 17(3), 30; https://doi.org/10.3390/hematolrep17030030 - 12 Jun 2025

Cited by 2

Abstract

Background: Cephalosporins are considered safe antibiotics. However, serious hematological abnormalities may occur, although rarely, after their therapeutic use. Case Presentation: We present a case of pancytopenia in a 72-year-old female patient treated with ceftriaxone for a urinary tract infection. After five days of [...] Read more.

Background: Cephalosporins are considered safe antibiotics. However, serious hematological abnormalities may occur, although rarely, after their therapeutic use. Case Presentation: We present a case of pancytopenia in a 72-year-old female patient treated with ceftriaxone for a urinary tract infection. After five days of therapy, pancytopenia was observed. Other causes were excluded through extensive diagnostic evaluation, including immunological tests, viral serologies, bone marrow aspiration, and peripheral blood smear. The patient’s clinical condition significantly improved following the discontinuation of ceftriaxone and the administration of granulocyte colony-stimulating factor (G-CSF). Bone marrow findings revealed hypocellularity without malignant infiltration, and peripheral smear showed no dysplasia, blasts, or hemolysis. Conclusions: This case demonstrates that ceftriaxone, although widely regarded as a safe antibiotic, can induce rare but serious hematologic complications such as pancytopenia. A high index of suspicion is required when patients on antibiotic therapy develop unexplained cytopenias. Detailed medication history, exclusion of other causes, and prompt discontinuation of the suspected drug are essential. The patient’s favorable outcome supports the likelihood of an idiosyncratic, immune-mediated mechanism. Future research should explore pharmacogenomic screening in patients at increased risk, particularly involving HLA variants. Full article

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8 pages, 1283 KB

Open AccessCase Report

Multi-Organ Adverse Reaction to Two Hypomethylating Agents: A Challenge in High-Risk Myelodysplastic Syndrome Treatment

by Sofia Brites Alves and Francesca Pierdomenico

Hematol. Rep. 2025, 17(3), 29; https://doi.org/10.3390/hematolrep17030029 - 30 May 2025

Cited by 1

Abstract

Background and Clinical Significance: Intermediate- to high-risk Myelodysplastic Syndrome (MDS), according to the Revised International Prognostic Scoring System (IPSS-M), confers a high risk of progression into acute myeloid leukemia. Treatment with hypomethylating agents, including azacitidine and decitabine, represents the current standard of care. [...] Read more.

Background and Clinical Significance: Intermediate- to high-risk Myelodysplastic Syndrome (MDS), according to the Revised International Prognostic Scoring System (IPSS-M), confers a high risk of progression into acute myeloid leukemia. Treatment with hypomethylating agents, including azacitidine and decitabine, represents the current standard of care. In eligible patients, hypomethylating agents are used as a bridge for allogeneic stem cell transplantation, currently the only curative approach in these malignancies. The most common side effects of hypomethylating agents are myelosuppression, cutaneous injection site reactions (when azacitidine is given subcutaneously), and gastrointestinal symptoms. Uncommon, disabling, and long-lasting side effects represent a threat to effective treatment in this group of patients. Case Presentation: We describe the case of a 49-year-old male patient with IPSS-M intermediate-risk MDS, intended to receive first-line treatment with azacitidine followed by allogeneic stem cell transplantation. The first, late-onset azacitidine reaction was observed 48 h after the first exposure, with cutaneous and respiratory toxicity, followed by the late-onset recurrence of symptoms after azacitidine withdrawal and decitabine introduction. Conclusions: This case highlights atypical, disabling, and long-lasting drug reactions to two hypomethylating agents, with the persistence of hypersensitivity manifestations months after medication withdrawal. Full article

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8 pages, 748 KB

Open AccessCase Report

Management of Refractory Malignancy-Associated Hemophagocytic Lymphohistiocytosis in Adolescent Patients: A Case Series of Novel Therapeutics and Treatment Challenges

by Meha Krishnareddigari, Kenny Vo and Arun Panigrahi

Hematol. Rep. 2025, 17(3), 28; https://doi.org/10.3390/hematolrep17030028 - 20 May 2025

Abstract

Background: Hemophagocytic lymphohistiocytosis (HLH) is a potentially fatal syndrome of immune dysregulation with primary (genetic) and secondary (acquired) forms, including malignancy-associated HLH (m-HLH). The condition often presents significant diagnostic and therapeutic challenges due to overlapping symptoms with underlying malignancies and the absence of [...] Read more.

Background: Hemophagocytic lymphohistiocytosis (HLH) is a potentially fatal syndrome of immune dysregulation with primary (genetic) and secondary (acquired) forms, including malignancy-associated HLH (m-HLH). The condition often presents significant diagnostic and therapeutic challenges due to overlapping symptoms with underlying malignancies and the absence of standardized guidelines for refractory cases. The established standard of care is dexamethasone and etoposide, but no guidelines exist for refractory HLH or cases triggered by malignancy. Case presentations: This case series describes three adolescent patients with m-HLH, focusing on complexities in diagnosis, treatment regimens, and toxicity management. While dexamethasone and etoposide remain a standard of care, their efficacy in refractory cases is limited. We highlight the novel use of targeted therapies, including emapalumab, an interferon-gamma inhibitor, and ruxolitinib, a JAK1/2 inhibitor, which showed potential in modulating immune hyperactivation. Conclusions: Our findings emphasize the need for individualized treatment approaches in adolescent m-HLH and importance of further research to establish evidence-based therapeutic guidelines for refractory cases. Full article

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10 pages, 356 KB

Open AccessArticle

Racial Inequities Influencing Admission, Disposition and Hospital Outcomes for Sickle Cell Anemia Patients: Insights from the National Inpatient Sample Database

by Jayalekshmi Jayakumar, Nikhil Vojjala, Manasa Ginjupalli, Fiqe Khan, Meher Ayyazuddin, Davin Turku, Kalaivani Babu, Srinishant Rajarajan, Charmi Bhanushali, Tijin Ann Mathew, Poornima Ramadas and Geeta Krishnamoorty

Hematol. Rep. 2025, 17(3), 27; https://doi.org/10.3390/hematolrep17030027 - 9 May 2025

Abstract

Background: Sickle cell disease (SCD) significantly impacts diverse racial groups, particularly African American and Hispanic persons, who experience notable disparities in healthcare outcomes. Despite the extensive literature on SCD, studies focusing on in-hospital racial inequities remain limited. Methods: We conducted a retrospective analysis [...] Read more.

Background: Sickle cell disease (SCD) significantly impacts diverse racial groups, particularly African American and Hispanic persons, who experience notable disparities in healthcare outcomes. Despite the extensive literature on SCD, studies focusing on in-hospital racial inequities remain limited. Methods: We conducted a retrospective analysis using the National Inpatient Sample (NIS) from 2016 to 2020, identifying adult hospitalizations for SCD (HbSS genotype). Hospitalizations were categorized by race—White, African American, Hispanic, and other, and analyzed for demographic variables, admission types, disposition outcomes, and complications. Statistical analyses included chi-square tests and multivariate logistic regression, adjusting for confounders. Results: Of the 1,089,270 identified hospitalizations, 90.31% were African American. African American and Hispanic patients exhibited significantly higher non-elective admissions compared to Whites (77.81%). In-hospital mortality was highest among Hispanics (0.82%). Multivariate regression analysis revealed that African Americans and others had higher odds of prolonged hospital stays (Adjusted Odds Ratio (AOR): 1.30 and 1.20, respectively). African Americans and Hispanics also had increased risks of in-hospital complications of SCD. Conclusions: This study highlights substantial racial disparities in SCD hospitalizations, with African Americans and Hispanics facing poorer outcomes compared to Whites. Hispanics also demonstrated increased mortality. These findings underscore the need for targeted healthcare interventions to address racial inequities in SCD management and improve outcomes for all affected populations. Full article

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