Hematology Reports

6 pages, 652 KiB

Open AccessCase Report

Successful Management of Acquired von Willebrand Syndrome Associated with Monoclonal Gammopathy of Undetermined Significance After Sotorasib Treatment in a Patient with Non-Small-Cell Lung Carcinoma

by Mélissa Julien, Léa Pierre, Anne-Cécile Gérout, Laurent Sattler, Olivier Feugeas and Dominique Desprez

Hematol. Rep. 2025, 17(2), 21; https://doi.org/10.3390/hematolrep17020021 - 16 Apr 2025

Abstract

Background: This case report investigates the effects of sotorasib treatment in a patient with acquired von Willebrand syndrome (AVWS) associated with monoclonal gammopathy of undetermined significance (MGUS), who subsequently developed non-small-cell lung carcinoma (NSCLC) with a KRAS G12C mutation. Case Presentation: The patient, [...] Read more.

Background: This case report investigates the effects of sotorasib treatment in a patient with acquired von Willebrand syndrome (AVWS) associated with monoclonal gammopathy of undetermined significance (MGUS), who subsequently developed non-small-cell lung carcinoma (NSCLC) with a KRAS G12C mutation. Case Presentation: The patient, a 79-year-old male, presented with a prolonged history of recurrent lower gastrointestinal bleeding attributed to digestive angiodysplasia, which had persisted for over 30 years. AVWS was suspected based on a qualitative deficiency in von Willebrand factor (VWF), with abnormal results for factor VIII activity (FVIII:C), VWF antigen (VWF:Ag), and VWF ristocetin cofactor activity (VWF:Rco) (40%, 20%, and <2.4%, respectively). Further evaluation revealed the presence of an IgM kappa monoclonal spike, suggesting MGUS. In 2022, the patient was diagnosed with NSCLC harboring the KRAS G12C mutation and initiated second-line treatment with sotorasib. Notably, one year after the initiation of sotorasib therapy, the patient’s hemostasis had normalized, accompanied by significant improvements in VWF levels. VWF multimer electrophoresis demonstrated the restoration of high-molecular-weight multimers (HMWMs), and serum protein electrophoresis no longer detected MGUS. Conclusion: These improvements were likely attributable to the indirect effects of sotorasib on the bone marrow microenvironment. By inhibiting KRAS in stromal cells and osteoclasts, sotorasib may have disrupted the supportive niche necessary for malignant plasma cell survival, resulting in a reduction in the monoclonal spike. Unfortunately, the patient eventually succumbed to carcinogenic pleurisy. Full article

► Show Figures

Figure 1

8 pages, 822 KiB

Open AccessCase Report

Hemolytic Anemia Due to Gamma-Glutamylcysteine Synthetase Deficiency: A Rare Novel Case in an Arab-Muslim Israeli Child

by Motti Haimi and Jamal Mahamid

Hematol. Rep. 2025, 17(2), 20; https://doi.org/10.3390/hematolrep17020020 - 15 Apr 2025

Abstract

Background: Gamma-glutamylcysteine synthetase catalyzes the first and rate-limiting step in the synthesis of glutathione. Gamma-glutamylcysteine synthetase deficiency is a very rare condition that has so far been detected so far in nine patients from seven families worldwide. The inheritance of this disorder is [...] Read more.

Background: Gamma-glutamylcysteine synthetase catalyzes the first and rate-limiting step in the synthesis of glutathione. Gamma-glutamylcysteine synthetase deficiency is a very rare condition that has so far been detected so far in nine patients from seven families worldwide. The inheritance of this disorder is autosomal recessive. Methods: We report a case of 4.11-year-old boy, of Arab-Muslim origin, living in an Arab town in Israel who presented at the age of 2 days with severe anemia, reticulocytosis, and leukocytosis. Investigation for common causes of hemolytic anemia was negative (peripheral blood smear was normal, and he had a negative Coombs test, normal G6PD, and normal flow cytometry spherocytosis). The anemia worsened during the following days (hemoglobin (Hb): 7.2 g/dL) and he needed several blood transfusions. NGS (next-generation sequencing) gene panel analysis was performed. Results: In an NGS gene panel analysis for hereditary hemolytic anemias, we found a homozygotic change in the GCLC gene—G53.385.643c379C > T(homo)pArg127Cys—which confirms the diagnosis of gamma-glutamylcysteine synthetase deficiency. An additional rare change was found in this case in the GCLC gene, with unknown clinical significance: g.53373917, c 828 + 3A > G. Except for chronic anemia (Hb levels around 8 g/dL), the child has normal physical and neurological development. Conclusions: This study reports a rare case of gamma-glutamylcysteine synthetase deficiency in a 4.11-year-old Arab-Muslim boy from Israel who presented with severe anemia at 2 days old, aiming to document the first such case in the Middle East and contribute to the medical literature on this extremely rare condition that has only been detected in nine patients worldwide. Genetic analysis revealed a homozygotic change in the GCLC gene, confirming the diagnosis, and while the patient experiences chronic anemia, he maintains normal physical and neurological development, adding valuable insights to the understanding of this rare genetic disorder. An additional rare change was found in this case in the GCLC gene, with unknown clinical significance: g.53373917, c 828 + 3A > G. Full article

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

► Show Figures

Figure 1

8 pages, 1004 KiB

Open AccessArticle

Blood Coagulation Favors Anti-Inflammatory Immune Responses in Whole Blood

by Victor I. Seledtsov, Anatoly A. Pyshenko, Tatyana Ya. Lyubavskaya, Irina A. Seledtsova and Alexei A. von Delwig

Hematol. Rep. 2025, 17(2), 19; https://doi.org/10.3390/hematolrep17020019 - 11 Apr 2025

Abstract

Background: We studied the effects of human blood coagulation on antioxidant activity and the cellular secretion of immunoregulatory molecules in vitro. Methods: Reactive oxygen species (ROS) activity and cytokine content were determined in plasma and serum blood samples incubated with lipopolysaccharide (LPS) for [...] Read more.

Background: We studied the effects of human blood coagulation on antioxidant activity and the cellular secretion of immunoregulatory molecules in vitro. Methods: Reactive oxygen species (ROS) activity and cytokine content were determined in plasma and serum blood samples incubated with lipopolysaccharide (LPS) for 3 h or 18 h. Results: Coagulation process significantly decreased ROS activity induced by LPS in blood samples from healthy donors. Human serum was found to have significantly higher antioxidant activity than plasma. Blood coagulation markedly reduced LPS-induced secretion of TNF-α by cells, without significantly affecting the secretion of interleukin-1 (IL-1), IL-6, IL-8, or C-reactive protein (CRP). Blood clotting led to an increase in LPS-induced release of vascular endothelial growth factor (VEGF) by blood cells. A significant increase in procalcitonin levels was also observed in serum samples. Conclusions: Blood clotting enhances the antioxidant and anti-inflammatory functions of immunoreactive blood cells. Full article

► Show Figures

Graphical abstract

47 pages, 3413 KiB

Open AccessReview

Genetic Profiling of Acute and Chronic Leukemia via Next-Generation Sequencing: Current Insights and Future Perspectives

by Laras Pratiwi, Fawzia Hanum Mashudi, Mukti Citra Ningtyas, Henry Sutanto and Pradana Zaky Romadhon

Hematol. Rep. 2025, 17(2), 18; https://doi.org/10.3390/hematolrep17020018 - 28 Mar 2025

Abstract

Leukemia is a heterogeneous group of hematologic malignancies characterized by distinct genetic and molecular abnormalities. Advancements in genomic technologies have significantly transformed the diagnosis, prognosis, and treatment strategies for leukemia. Among these, next-generation sequencing (NGS) has emerged as a powerful tool, enabling high-resolution [...] Read more.

Leukemia is a heterogeneous group of hematologic malignancies characterized by distinct genetic and molecular abnormalities. Advancements in genomic technologies have significantly transformed the diagnosis, prognosis, and treatment strategies for leukemia. Among these, next-generation sequencing (NGS) has emerged as a powerful tool, enabling high-resolution genomic profiling that surpasses conventional diagnostic approaches. By providing comprehensive insights into genetic mutations, clonal evolution, and resistance mechanisms, NGS has revolutionized precision medicine in leukemia management. Despite its transformative potential, the clinical integration of NGS presents challenges, including data interpretation complexities, standardization issues, and cost considerations. However, continuous advancements in sequencing platforms and bioinformatics pipelines are enhancing the reliability and accessibility of NGS in routine clinical practice. The expanding role of NGS in leukemia is paving the way for improved risk stratification, targeted therapies, and real-time disease monitoring, ultimately leading to better patient outcomes. This review highlights the impact of NGS on leukemia research and clinical applications, discussing its advantages over traditional diagnostic techniques, key sequencing approaches, and emerging challenges. As precision oncology continues to evolve, NGS is expected to play an increasingly central role in the diagnosis and management of leukemia, driving innovations in personalized medicine and therapeutic interventions. Full article

► Show Figures

Figure 1

13 pages, 245 KiB

Open AccessArticle

Primary Palatine Tonsil Non-Hodgkin Lymphoma in Western Romania: A Comparison of Lower-Stage and Advanced-Stage Disease

by Raluca Morar, Norberth-Istvan Varga, Delia Ioana Horhat, Ion Cristian Mot, Nicolae Constantin Balica, Alina-Andree Tischer, Monica Susan, Razvan Susan, Diana Luisa Lighezan and Rodica Anamaria Negrean

Hematol. Rep. 2025, 17(2), 17; https://doi.org/10.3390/hematolrep17020017 - 28 Mar 2025

Abstract

Background: Limited data exist on primary palatine tonsil Non-Hodgkin lymphoma (NHL) from regions with constrained healthcare access. This study investigated this malignancy in Western and South-Western Romania, comparing lower-stage (Ann-Arbor I-III) and advanced-stage (IV) disease. Methods: A retrospective cohort study (2010–2019) [...] Read more.

Background: Limited data exist on primary palatine tonsil Non-Hodgkin lymphoma (NHL) from regions with constrained healthcare access. This study investigated this malignancy in Western and South-Western Romania, comparing lower-stage (Ann-Arbor I-III) and advanced-stage (IV) disease. Methods: A retrospective cohort study (2010–2019) at a tertiary referral hospital included 59 patients with primary palatine tonsil NHL. Data on demographics, clinical presentation, comorbidities (including viral hepatitis B/C), histology, International Prognostic Index (IPI) score, treatment, and outcomes were collected. Statistical comparisons between lower-stage (n = 26) and advanced-stage (n = 33) groups were performed. Results: A high proportion presented with advanced-stage disease (55.9%). The advanced-stage group had significantly more B symptoms (90.9% vs. 69.2%, p = 0.038) and elevated LDH levels (93.9% vs. 57.7%, p = 0.013). Viral hepatitis B and/or C infection was more frequent in advanced-stage disease (30.3% vs. 15.4%, p = 0.44). Combined chemoradiotherapy was more commonly used in lower-stage disease (38.46% vs. 12.12%, p = 0.019). There was no statistically significant difference in relapse rates between the groups. Conclusions: This study highlights the substantial burden of advanced-stage primary palatine tonsil NHL in Western Romania, suggesting a need for improved early detection. The association between viral hepatitis and advanced-stage, although not statistically significant, warrants further investigation. These findings may inform tailored management approaches in resource-constrained settings. Full article

10 pages, 966 KiB

Open AccessArticle

Treatment of Non-Hodgkin Lymphoma Involving Head and Neck Sites with a 1.5 T MR-Linac: Preliminary Results from a Prospective Observational Study

by Andrea Emanuele Guerini, Stefania Nici, Stefano Riga, Ludovica Pegurri, Paolo Borghetti, Eneida Mataj, Jacopo Balduzzi, Mirsada Katica, Gianluca Cossali, Giorgio Facheris, Luca Triggiani, Albert Sakiri, Luigi Spiazzi, Stefano Maria Magrini and Michela Buglione

Hematol. Rep. 2025, 17(2), 16; https://doi.org/10.3390/hematolrep17020016 - 27 Mar 2025

Abstract

Purpose: Lymphomas are generally radiosensitive; therefore, disease volume tends to shrink during radiotherapy courses. As MRI-linac provides excellent soft tissue definition and allows daily re-contouring of gross tumor volume and clinical target volume, its adoption could be beneficial for the treatment of [...] Read more.

Purpose: Lymphomas are generally radiosensitive; therefore, disease volume tends to shrink during radiotherapy courses. As MRI-linac provides excellent soft tissue definition and allows daily re-contouring of gross tumor volume and clinical target volume, its adoption could be beneficial for the treatment of lymphomas. Nonetheless, at this time there is a lack of literature regarding the use of MR-linac in this context. Methods: A prospective observational study was conducted on patients affected by non-Hodgkin lymphoma (NHL) involving head and neck (H&N) sites and treated with Elekta Unity^® MR-Linac. The clinical and dosimetric data of the first eight patients were collected and integrated with relevant data from medical records. Results: Seven patients had B-cell lymphoma (three DLBCL, two MALT, one follicular, and one mantle-cell) and one T-cell/NK lymphoma. The intent of RT was radical for four patients, salvage treatment for three, and CAR-T bridging for one. Two patients presented orbital localizations and six cervical lymphonodal sites. Median GTV was 5.74 cc, median CTV 127.01 cc, and median PTV 210.37 cc. The prescribed dose was 24–50 Gy in 2 Gy fractions for seven patients and 24 Gy in 3 Gy fractions for one patient. All the patients experienced acute toxicity, the maximum grade was G1 for five patients and G2 for three at the end of RT. One month after radiotherapy seven patients still experienced G1 toxicity, but no toxicity grade ≥ 2 was reported. First radiological assessment was performed for all the patients after a median of 101.5 days, reporting complete response in all the cases. After a median follow up of 330 days, no patient experienced local disease progression, while one patient developed distant progression. Conclusions: radiotherapy for NHL with H&N localization using a 1.5 T MR-linac was feasible, with no >G2 toxicity and optimal response rate and disease control. Full article

(This article belongs to the Special Issue Modern Radiotherapy for the Treatment of Lymphoma and Myeloma: Integration with Systemic Treatment and Advanced Imaging Techniques)

► Show Figures

Figure 1

8 pages, 204 KiB

Open AccessCommunication

Avascular Necrosis of the Femoral Head in Patients with Antiphospholipid Syndrome: A Case Series

by Paschalis Evangelidis, Eleni Gavriilaki, Nikolaos Kotsiou, Zacharo Ntova, Panagiotis Kalmoukos, Theodosia Papadopoulou, Sofia Chissan and Sofia Vakalopoulou

Hematol. Rep. 2025, 17(2), 15; https://doi.org/10.3390/hematolrep17020015 - 21 Mar 2025

Abstract

Background/Objectives: Antiphospholipid syndrome (APS) is a systemic autoimmune disease characterized by thrombosis or obstetric complications and the laboratory detection of antiphospholipid antibodies. Although vascular thrombosis is the main manifestation of the disease, other rarer complications have also been described. Avascular necrosis (AN) [...] Read more.

Background/Objectives: Antiphospholipid syndrome (APS) is a systemic autoimmune disease characterized by thrombosis or obstetric complications and the laboratory detection of antiphospholipid antibodies. Although vascular thrombosis is the main manifestation of the disease, other rarer complications have also been described. Avascular necrosis (AN) is considered a rare manifestation of APS. The aim of our case series is to study patients with APS and AN. Methods: A retrospective study was performed on 80 patients diagnosed with APS. Results: AN was observed in 3 patients out of 80 diagnosed with APS. AN of the femoral head was observed in all cases. Case (1): A 54-year-old woman presented due to multiple ischemic infarctions in the brain, as detected in magnetic resonance imaging of the brain, Raynaud’s phenomenon, and AN of the femoral head. In laboratory testing, a prolongation of activated partial thromboplastin time was recorded. A heterozygous mutation was also found in the gene MTHFR C677T, and the patients was positive for lupus anticoagulant (LA). The patient was given clopidogrel and acenocoumarol. Case (2): A 52-year-old man was diagnosed with APS, based on the clinical presentation (stroke) and positivity for LA and anti-β2GPI (anti-β2 glycoprotein I antibody). In his medical history, episodes of vertigo and an episode of AN of the femoral head 2 years ago were described. Case (3): A woman aged 43 years presented due to AN of the femoral head. Due to suspected APS, immunological testing was performed, and positivity for LA and IgM anticardiolipin antibodies was detected. She was treated with acenocoumarol. Conclusions: AN is a rare clinical manifestation of APS, which may precede the diagnosis of APS for many years. Full article

7 pages, 1804 KiB

Open AccessCase Report

Pure White Cell Aplasia, an Exceedingly Rare Complication of a Thymoma, and Immune Reconstitution Following Bone Marrow Recovery

by Giby V. George, J. C. Uy, John L. Mariano, Marisa Jacob-Leonce and Chauncey R. Syposs

Hematol. Rep. 2025, 17(2), 14; https://doi.org/10.3390/hematolrep17020014 - 21 Mar 2025

Abstract

Background: Thymoma-associated pure white cell aplasia (PWCA), characterized by agranulocytosis with absent myeloid precursors in the bone marrow in the setting of preserved erythropoiesis and megakaryopoiesis, is exceedingly rare, with only a few cases reported in the literature. We present a case of [...] Read more.

Background: Thymoma-associated pure white cell aplasia (PWCA), characterized by agranulocytosis with absent myeloid precursors in the bone marrow in the setting of preserved erythropoiesis and megakaryopoiesis, is exceedingly rare, with only a few cases reported in the literature. We present a case of type-B2-thymoma-associated PWCA and immune reconstitution following marrow recovery. Case Presentation: A 75-year-old woman was incidentally found to have a concomitant mediastinal mass and peripheral leukopenia with absent granulocytes and monocytes. Bone marrow assessment was notable for a hypocellular marrow (<10%) with absent granulopoiesis and monopoiesis. Chest CT demonstrated a large lobulated anterior mediastinal mass, for which the patient underwent a video-assisted thoracoscopic thymectomy. Pathological evaluation of the mediastinal mass specimen revealed a type B2 thymoma. A tentative diagnosis of thymoma-associated PWCA was made, and the patient was started on cyclosporine/granulocyte-colony stimulating factor (G-CSF)/filgrastim therapy. Despite promising marrow recovery, she developed several comorbidities and had a leukemoid reaction, provoking concern for immune reconstitution following prolonged neutropenia and subsequent treatment. She passed away on post-operative day 15, and the results of a post-mortem bone marrow examination were consistent with granulocytic hyperplasia. Conclusions: This case of thymoma-associated PWCA heightens awareness regarding this entity, providing a note of caution regarding the possibility of immune reconstitution following treatment and marrow recovery. Full article

► Show Figures

Figure 1

9 pages, 1146 KiB

Open AccessCase Report

Hairy Cell Leukemia: A Differential Diagnosis of Hepatitis B-Associated Aplastic Anemia and Syphilis

by I. Kindekov, E. Beleva, M. Kadish, I. Ionchev and N. Semerdzhieva

Hematol. Rep. 2025, 17(2), 13; https://doi.org/10.3390/hematolrep17020013 - 15 Mar 2025

Abstract

Aplastic anemia occurs with an incidence of 2–5: 1 million people worldwide. However, the frequency of newly diagnosed cases of bone marrow aplasia is greater, and some of these patients present to emergency departments initially. Description of Case: We present the case of [...] Read more.

Aplastic anemia occurs with an incidence of 2–5: 1 million people worldwide. However, the frequency of newly diagnosed cases of bone marrow aplasia is greater, and some of these patients present to emergency departments initially. Description of Case: We present the case of a middle-aged man with pancytopenia. In this case, aplastic anemia associated with hepatitis B and syphilis was only the initial diagnosis. An indolent hematologic malignancy—hairy cell leukemia—was diagnosed as the real cause of the bone marrow failure in a clinic of hematology. Conclusions: This clinical case allows us to make a conclusion, albeit not definitively, about the contribution of hepatitis B and syphilis to the clinical manifestation of hairy cell leukemia. A detailed and consistent diagnostic plan is also required in patients presenting with pancytopenia. Failure to diagnose a hepatitis B infection in a patient with malignant hematologic disease would lead to fatal therapeutic errors. Full article

► Show Figures

Figure 1

7 pages, 1839 KiB

Open AccessCase Report

Acute Intracerebral Hemorrhage Associated with Extensive Venous Thrombosis Due to Spontaneous Heparin-Induced Thrombocytopenia After Total Knee Replacement: A Case Report

by Mehdi Kashani, Meghan Brown and Juan Pablo Domecq Graces

Hematol. Rep. 2025, 17(2), 12; https://doi.org/10.3390/hematolrep17020012 - 13 Mar 2025

Abstract

Introduction: Heparin-induced thrombocytopenia (HIT) is an autoimmune life-threatening prothrombotic syndrome associated with low platelet count after heparin exposure. Spontaneous heparin-induced thrombocytopenia (S-HIT) is an even less frequent variant of HIT, with only a handful of reports available in the literature, where unexplained thrombocytopenia [...] Read more.

Introduction: Heparin-induced thrombocytopenia (HIT) is an autoimmune life-threatening prothrombotic syndrome associated with low platelet count after heparin exposure. Spontaneous heparin-induced thrombocytopenia (S-HIT) is an even less frequent variant of HIT, with only a handful of reports available in the literature, where unexplained thrombocytopenia and/or thrombosis without recent heparin exposure occurs in the setting of positive anti-PF4 antibodies. Case Presentation: We report a case of S-HIT associated with pulmonary artery embolism, left internal jugular vein, and cerebral vein sinus thrombosis complicated with ipsilateral acute intracerebral hemorrhage. Discussion: It is important to highlight that in patients with otherwise unexplained thrombocytopenia and prior exposure to an inflammatory process, S-HIT should be on the differential. Conclusions: Recognition and avoidance of heparin exposure is the most important aspect of S-HIT, as the management is otherwise similar to HIT. Full article

► Show Figures

Figure 1

6 pages, 559 KiB

Open AccessCase Report

Feasibility of Intensive Chemotherapy in Hereditary Spherocytosis

by Carrai Valentina, Giubbilei Cristina, Ciceri Manuel, D’Angelo Simona, Nassi Luca, Sordi Benedetta, Vannucchi Alessandro Maria and Puccini Benedetta

Hematol. Rep. 2025, 17(2), 11; https://doi.org/10.3390/hematolrep17020011 - 24 Feb 2025

Abstract

Background: This study presents a young man with hereditary spherocytosis (HS) who underwent intensive chemotherapy for newly diagnosed diffuse large B-cell lymphoma (DLBCL) and achieved complete remission. This case challenges the idea of HS as a barrier to standard DLBCL treatment. Discussion: By [...] Read more.

Background: This study presents a young man with hereditary spherocytosis (HS) who underwent intensive chemotherapy for newly diagnosed diffuse large B-cell lymphoma (DLBCL) and achieved complete remission. This case challenges the idea of HS as a barrier to standard DLBCL treatment. Discussion: By meticulously monitoring blood counts and providing timely transfusions, the team successfully mitigated potential complications associated with chemotherapy-induced stress on red blood cells. Conclusions: This experience underscores the importance of a multidisciplinary approach and tailored treatment plans for patients with co-existing conditions, suggesting that HS should not automatically disqualify them from potentially curative therapies for aggressive lymphomas. Full article

► Show Figures

Figure 1

5 pages, 875 KiB

Open AccessCase Report

Factor X Concentrate Treatment Schedule and Dosing in Acquired FX Deficiency

by Andrew Ross, Rebecca J. Shaw, Louise Garth and Cathy Farrelly

Hematol. Rep. 2025, 17(2), 10; https://doi.org/10.3390/hematolrep17020010 - 21 Feb 2025

Abstract

Background: Acquired factor X (FX) deficiency is a rare condition that can cause life threatening bleeding. Here we outline a successful management strategy for gastrointestinal bleeding (GI) using human FX concentrate. Case description: A 61-year-old male presented with upper GI bleeding and a [...] Read more.

Background: Acquired factor X (FX) deficiency is a rare condition that can cause life threatening bleeding. Here we outline a successful management strategy for gastrointestinal bleeding (GI) using human FX concentrate. Case description: A 61-year-old male presented with upper GI bleeding and a prolonged prothrombin time. Investigations demonstrated an acquired FX deficiency (determined to be secondary to AL amyloidosis). Results: Treatment with FX concentrate to maintain trough FX levels >20% resulted in successful cessation of bleeding symptoms, and levels >50% facilitated urgent invasive procedures. Conclusions: This case report adds valuable insight into the management of this rare condition, and how best to utilize FX concentrates in acquired FX deficiency. Full article

► Show Figures

Figure 1

13 pages, 931 KiB

Open AccessArticle

Awareness and Attitude of the General Population Towards Inherited Hemoglobinopathies in the Premarital Screening Program in the Northern Region of Saudi Arabia

by Mariah N. Hafiz, Nida Suhail, Zakariya M. S. Mohammed, Husham O. Elzein, Hibah A. Almasmoum, Awad E. Abass, Mohammed M. Jawad and Saoussen Trabelsi

Hematol. Rep. 2025, 17(1), 9; https://doi.org/10.3390/hematolrep17010009 - 5 Feb 2025

Abstract

Background: Premarital screening (PMS) is a nationwide program that helps high-risk individuals make decisions to avoid genetic and sexually transmitted diseases from spreading to their spouse or future offspring. This study examined the knowledge and attitudes towards inherited hemoglobinopathies in PMS among the [...] Read more.

Background: Premarital screening (PMS) is a nationwide program that helps high-risk individuals make decisions to avoid genetic and sexually transmitted diseases from spreading to their spouse or future offspring. This study examined the knowledge and attitudes towards inherited hemoglobinopathies in PMS among the people of Northern Border Region in Saudi Arabia and their relationship to various sociodemographic factors. Methods: A cross-sectional study was undertaken in the Northern region of Saudi Arabia from January to March 2024. Data were gathered via questionnaire from 478 Saudi participants aged 18 years and older. The chi-square test was employed to determine the association between categorical variables. Results: All participants in the study were familiar with the PMS program. A significant portion of participants, 79.3%, acknowledged that consanguinity can increase the risk of hereditary blood disorders, while 69.9% believed that if both parents are carriers of the same genetic blood disease, their child may inherit it. Higher education, female gender, and age group (30–40) were found to be the main predictors of knowledge regarding PMS. Most of the participants (98.5%) had a positive attitude regarding the necessity of PMS as a prerequisite for marriage completion. About 82.8% indicated they would not continue with the marriage if the PMS results were incompatible. Conclusions: The study indicates a growing awareness and positive attitude towards premarital screening among the general population, with an increasing number of individuals opting for it. The findings suggest that PMS programs contribute to informed decision making, as evidenced by the rise in participants choosing to forgo marriage due to partner incompatibility. The study recommends the enhancement of health education campaigns by considering demographic factors such as age, education, and marital status. Additionally, it advocates for expanding the scope of PMS to include a wider range of health and genetic disorders to improve its overall efficacy. Full article

► Show Figures

Figure 1

11 pages, 528 KiB

Open AccessReview

Solid Tumors, Liquid Challenges: The Impact of Coagulation Disorders

by Nidha Shapoo, Noella Boma, Shobhana Chaudhari and Vladimir Gotlieb

Hematol. Rep. 2025, 17(1), 8; https://doi.org/10.3390/hematolrep17010008 - 5 Feb 2025

Abstract

Coagulation disorders are increasingly recognized as significant complications in patients with solid tumors, affecting morbidity and mortality outcomes. Solid tumors can provoke a hypercoagulable state through the release of pro-coagulant factors, endothelial activation, and inflammation, leading to a heightened risk of coagulation disorders. [...] Read more.

Coagulation disorders are increasingly recognized as significant complications in patients with solid tumors, affecting morbidity and mortality outcomes. Solid tumors can provoke a hypercoagulable state through the release of pro-coagulant factors, endothelial activation, and inflammation, leading to a heightened risk of coagulation disorders. These coagulation disorders may manifest as venous thromboembolism, arterial thromboembolism, thrombotic microangiopathy, or disseminated intravascular coagulation. These disorders can complicate surgical interventions and impact treatments, including chemotherapy and immunotherapy efficacy, leading to poor outcomes. Understanding the implications of coagulation disorders in solid tumors is essential for optimizing patient management, including identifying high-risk patients, implementing prophylactic measures, elucidating biomarkers for clinical outcomes, and exploring novel therapeutic agents. This review aims to provide insights into the current knowledge surrounding coagulation disorders in solid tumors and their clinical implications. Full article

► Show Figures

Figure 1

8 pages, 813 KiB

Open AccessCase Report

Bosutinib-Induced Pleural Effusion—Class Effect and Cross-Intolerance to All Tyrosine Kinase Inhibitors

by Nikhil Vojjala, Hizqueel A. Sami, Nikhil Kumar Kotla, Supriya Peshin, Kanika Goyal, Soumya Kondaveety, Rishab Rajendra Prabhu and Geetha Krishnamoorthy

Hematol. Rep. 2025, 17(1), 7; https://doi.org/10.3390/hematolrep17010007 - 31 Jan 2025

Abstract

Introduction: Tyrosine kinase inhibitors (TKIs) serve as the backbone in the management of chronic myelogenous leukemia and Philadelphia-positive Acute lymphoblastic Leukemia (Ph+ve ALL). With the growing use of TKIs, there has been an increase in adverse events related to these agents. Hereby, we [...] Read more.

Introduction: Tyrosine kinase inhibitors (TKIs) serve as the backbone in the management of chronic myelogenous leukemia and Philadelphia-positive Acute lymphoblastic Leukemia (Ph+ve ALL). With the growing use of TKIs, there has been an increase in adverse events related to these agents. Hereby, we present elderly women with Ph+ve ALL who developed recurrent pleural effusion, which was managed by switching the TKI and highlighting pleural effusion due to a third-generation TKI Bosutinib, adding to the minimal available literature. Case Description: Our patient is a 79-year-old female with Ph+ve ALL diagnosed in 2015 and started on treatment. She is also on TKI maintenance initially with Imatinib later shifted to second-generation TKIs. She started developing worsening dyspnea related to pulmonary toxicity related to TKI in the form of pleural effusion. Pleural effusion was initially managed with diuretics, later requiring thoracocentesis. Because of persistent pleural effusion, she was changed to multiple TKIs and finally started on Bosutinib. She even developed progressive pleural effusion while on Bosutinib which is managed by thoracocentesis. Conclusions: Through this case report, we would like to highlight refractory recurrent pleural effusion caused by bosutinib adding to the minimal available literature. In addition, we highlight the various treatment options in patients having cross-intolerance to various TKIs, especially pulmonary toxicity, and ponatinib might be a suitable option in such cases. Full article

► Show Figures

Figure 1

17 pages, 1912 KiB

Open AccessArticle

Risk Factors for Impaired Glucose Metabolism in Transfusion-Dependent Patients with β-Thalassemia: A Single-Center Retrospective Observational Study

by Theodora Maria Venou, Filippos Kyriakidis, Fani Barmpageorgopoulou, Stamatia Theodoridou, Athanasios Vyzantiadis, Philippos Klonizakis, Eleni Gavriilaki and Efthymia Vlachaki

Hematol. Rep. 2025, 17(1), 6; https://doi.org/10.3390/hematolrep17010006 - 30 Jan 2025

Abstract

Background/Objectives: B-thalassemia is a genetic disorder that leads to reduced or absent β-globin chains, often resulting in endocrine abnormalities due to iron overload, chronic anemia, and hypoxia. This study investigates the prevalence and risk factors for glucose metabolism disturbances in transfusion-dependent β-thalassemia (TDT) [...] Read more.

Background/Objectives: B-thalassemia is a genetic disorder that leads to reduced or absent β-globin chains, often resulting in endocrine abnormalities due to iron overload, chronic anemia, and hypoxia. This study investigates the prevalence and risk factors for glucose metabolism disturbances in transfusion-dependent β-thalassemia (TDT) patients, focusing on pancreatic iron overload and its association with other iron biomarkers. Methods: We studied two groups of TDT patients (2018–2022) at Hippokration General Hospital: Group 1 (no glucose metabolism impairment, n = 46) and Group 2 (with impaired glucose tolerance or diabetes mellitus, n = 18). Patients were assessed for factors contributing to glucose disturbances, and laboratory data were analyzed. Type 2 diabetes was diagnosed per American Diabetes Association criteria, and impaired glucose tolerance was defined by OGTT results. A multivariate logistic regression identified potential independent risk factors. In a subset of patients on iron chelation therapy, we examined the relationship between pancreatic, liver, and heart iron overload (T2* MRI) and glucose/ferritin levels. Results: Age and elevated serum GGT levels were significantly associated with impaired glucose metabolism (p = 0.02). Beta-blocker use was correlated with glucose disturbances (p = 0.02), but multivariate analysis revealed no significant independent risk factors. A significant relationship was found between pancreatic and heart iron overload (r = 0.45, p = 0.04). Conclusions: Elevated GGT levels suggest that oxidative stress and liver dysfunction play a key role in glucose metabolism disturbances. Pancreatic MRI T2* may help predict heart iron overload. Further research is needed to identify reliable biomarkers for glucose regulation in TDT. Full article

► Show Figures

Figure 1

13 pages, 2912 KiB

Open AccessArticle

The Role of Ferritin and Folate in Determining Stem Cell Collection for Autologous Stem Cell Transplant in Multiple Myeloma

by Charles J. Weeks, Mohammad Mian, Michael Stokes, Matthew Gold, Anvay Shah, Rohan Vuppala, Katherine J. Kim, Abigayle B. Simon, Jorge Cortes, Anand Jillela and Vamsi Kota

Hematol. Rep. 2025, 17(1), 5; https://doi.org/10.3390/hematolrep17010005 - 24 Jan 2025

Abstract

Background: An autologous stem cell transplant (ASCT) is the standard of care for eligible patients with multiple myeloma (MM). However, the success of ASCT largely hinges on efficient mobilization; thus, a thorough analysis of factors that may affect mobilization is essential. Methods: The [...] Read more.

Background: An autologous stem cell transplant (ASCT) is the standard of care for eligible patients with multiple myeloma (MM). However, the success of ASCT largely hinges on efficient mobilization; thus, a thorough analysis of factors that may affect mobilization is essential. Methods: The study consists of a single-center, retrospective chart review of 292 adult patients undergoing their first or second autologous transplantation for MM from 2016 to 2023. Patient demographics, serum lab values at the pre-collection evaluation visit, total stem cell capture (TC) in CD34/kg × 10⁶ stem cell capture on the first day of apheresis (FC) in CD34/kg × 10⁶, and the total number of days of apheresis (DOA) were retrieved from the electronic medical record (EMR). Results: Individuals with high folate levels experienced less DOA (1.43 ± 0.61) compared to those with normal folate levels (1.68 ± 0.82, p = 0.013). The high-folate group had a greater FC (3.26 ± 1.07) compared to the normal-folate group (2.88 ± 1.13, p = 0.013). High ferritin levels were associated with more DOA (1.79 ± 0.89) compared to the normal-ferritin group (1.51 ± 0.67, p = 0.034). Moderate anemia was significantly associated with decreased FC (p = 0.023) and increased DOA (p = 0.030). Abnormal hemoglobin (Hgb), ferritin, and folate statuses did not exhibit significant differences in survival analysis. Conclusions: The findings reveal that folate, ferritin, and Hgb levels are significantly associated with apheresis outcomes, offering guidance for optimizing stem cell mobilization in patients with MM. Full article

► Show Figures

Figure 1

8 pages, 605 KiB

Open AccessArticle

The Prevalence of Peripheral Erythrophagocytosis in Pediatric Immune-Mediated Hemolytic Anemia

by Anselm Chi-wai Lee

Hematol. Rep. 2025, 17(1), 4; https://doi.org/10.3390/hematolrep17010004 - 20 Jan 2025

Abstract

Background: Peripheral erythrophagocytosis appears to be a unique sign of acquired immune-mediated hemolytic anemia. It is said to be rare but its prevalence among patients with autoimmune hemolytic anemia has not been studied. Methods: In this retrospective study from July 2014 to June [...] Read more.

Background: Peripheral erythrophagocytosis appears to be a unique sign of acquired immune-mediated hemolytic anemia. It is said to be rare but its prevalence among patients with autoimmune hemolytic anemia has not been studied. Methods: In this retrospective study from July 2014 to June 2024, the clinical and laboratory features, treatment and outcomes of children diagnosed with autoimmune hemolytic anemia were described. The prevalence of peripheral erythrophagocytosis was compared to a group of children with hereditary spherocytosis at the time of first diagnosis seen in the same period. Results: Twelve consecutive children with autoimmune hemolytic anemia were included. There were four female patients. The mean age was 6.7 (range 0.8 to 16.6) years. The mean hemoglobin was 6.0 (range 2.5 to 8.1) g/dL. Seven patients were positive by a direct antiglobulin test, three were positive with cold agglutinins and two were positive on both tests. In seven cases, an acute infection appeared to be the precipitating factor. Mycoplasma pneumoniae infection was documented in three and suspected in another two cases. Peripheral erythrophagocytosis was present in five cases (42%) but was not found at diagnosis in any of the 16 cases of hereditary spherocytosis (p = 0.0081). Six children had pre-existing diseases, including two with hereditary hemolytic anemia. Conclusions: Peripheral erythrophagocytosis is a relatively common and characteristic finding in pediatric autoimmune hemolytic anemia and should be actively looked for in the evaluation of acute hemolysis, including in children with pre-existing hereditary hemolytic disorders. Full article

► Show Figures

Figure 1

6 pages, 537 KiB

Open AccessCase Report

AntiCD30-Conjugated Antibody Plus Standard BEAM as Conditioning Regimen for Autologous Hematopoietic Stem Cell Transplantation in Systemic Anaplastic Large Cell Lymphoma

by Panayotis Kaloyannidis, Basmah Al-Charfli, Biju George, Charbel Khalil, Nour Al-Moghrabi, Samar Mustafa, Dima Ibrahim, Mohammed Alfar, Firuz Ibrahim, Bassam Odeh, Mohammed Daryahya and Philip Shabo

Hematol. Rep. 2025, 17(1), 3; https://doi.org/10.3390/hematolrep17010003 - 20 Jan 2025

Abstract

Background/objectives: The outcome of refractory/relapsed systemic Anaplastic Large Cell Lymphoma (R/R-sALCL), especially for anaplastic lymphoma kinase-1 (ALK-1)-negative disease, remains dismal even after autologous hematopoietic stem cell transplantation (AHSCT). The intensification of both salvage and conditioning regimens, without increasing the toxicity, could improve the [...] Read more.

Background/objectives: The outcome of refractory/relapsed systemic Anaplastic Large Cell Lymphoma (R/R-sALCL), especially for anaplastic lymphoma kinase-1 (ALK-1)-negative disease, remains dismal even after autologous hematopoietic stem cell transplantation (AHSCT). The intensification of both salvage and conditioning regimens, without increasing the toxicity, could improve the outcome of AHSCT in R/R-sALCL. Methods: Based on the successful experience of the incorporation of antiD20 monoclonal antibodies in the treatment of B-Cell Lymphomas, we designed a salvage and conditioning regimen incorporating the antiCD30-conjugated antibody (Brentuximab Vedotin, BV) to standard chemotherapy regimens, and we describe herein the clinical course of a patient with AKL-ve, R/R-sALCL, who received salvage regimen BV + DHAP, followed by AHSCT with preparative regimen consisted of BV plus standard BEAM. Results: The novel regimen was well tolerated, and no severe adverse effects were noticed. The engraftment was prompt and successful. The patient remained in complete metabolic remission for almost 12 months post-transplant. Conclusions: The proposed treatment approach, which combines antiCD30-conjugated antibody with standard salvage and conditioning regimens, demonstrated a completely acceptable toxicity with promising efficacy. Full article

► Show Figures

Figure 1

Journal Description

Hematology Reports

Latest Articles

Journal Menu

Journal Browser

Highly Accessed Articles

Latest Books

E-Mail Alert

News

Topics

Conferences

Special Issues

Further Information

Guidelines

MDPI Initiatives

Follow MDPI