Hematology Reports

13 pages, 931 KB

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

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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

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11 pages, 528 KB

Open AccessEditor’s ChoiceReview

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

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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

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8 pages, 813 KB

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

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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

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17 pages, 1912 KB

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

Cited by 1 | Viewed by 1586

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

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13 pages, 2912 KB

Open AccessEditor’s ChoiceArticle

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

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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

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8 pages, 605 KB

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

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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

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6 pages, 537 KB

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

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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

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10 pages, 1719 KB

Open AccessReview

Sickle Cell Anemia and Inflammation: A Review of Stones and Landmarks Paving the Road in the Last 25 Years

by Jessica Dorneles, Amanda de Menezes Mayer and José Artur Bogo Chies

Hematol. Rep. 2025, 17(1), 2; https://doi.org/10.3390/hematolrep17010002 - 10 Jan 2025

Cited by 5 | Viewed by 2777

Abstract

A quarter of a century ago, sickle cell disease (SCD) was mainly viewed as a typical genetic disease inherited as a classical Mendelian trait. Therefore, the main focus concerning SCD was on diagnosis, meaning, genotyping, and identification of homozygous and heterozygous individuals carrying [...] Read more.

A quarter of a century ago, sickle cell disease (SCD) was mainly viewed as a typical genetic disease inherited as a classical Mendelian trait. Therefore, the main focus concerning SCD was on diagnosis, meaning, genotyping, and identification of homozygous and heterozygous individuals carrying the relevant HbS mutant allele. Nowadays, it is well established that sickle cell disease is indeed the result of homozygosis for the HbS variant, although this single feature is not capable of explaining the highly diverse clinical presentation of SCD. In fact, an important feature of SCD is the chronic inflammation that accompanies the sickling of erythrocytes. In this manuscript, we will revisit the early evidence of inflammation in SCD and review what was uncovered during the last 25 years. Here, we describe Sickle cell anemia as a major participant in the history of science. In fact, SCD was the first genetic disease where the causal mutation was identified and is also the first disease for which treatment through genome editing was approved, making this disease a landmark in the road of molecular biology. Full article

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9 pages, 2893 KB

Open AccessCase Report

The Many Faces of Philadelphia: A Mature T-Cell Lymphoma with Variant Philadelphia-Translocation and Duplication of the Philadelphia Chromosome

by Livia Vida, Bálint Horváth, Miklós Egyed, Béla Kajtár and Hussain Alizadeh

Hematol. Rep. 2025, 17(1), 1; https://doi.org/10.3390/hematolrep17010001 - 6 Jan 2025

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Abstract

Background: T-cell prolymphocytic leukemia (T-PLL) is a rare mature T-cell lymphoma that is usually associated with poor prognosis and short overall survival. Methods: We present a case of a 61-year-old woman presenting with T-PLL and the leukemic cells harboring BCR::ABL1 (BCR—breakpoint [...] Read more.

Background: T-cell prolymphocytic leukemia (T-PLL) is a rare mature T-cell lymphoma that is usually associated with poor prognosis and short overall survival. Methods: We present a case of a 61-year-old woman presenting with T-PLL and the leukemic cells harboring BCR::ABL1 (BCR—breakpoint cluster region; ABL1—ABL protooncogene 1) fusion transcripts as the result of a variant of t(9;22)(q34;q11) called Philadelphia translocation: t(9;22;18)(q34;q11;q21). Sequencing revealed a rare BCR transcript with an exon 6 breakpoint corresponding to e6a2 transcripts, which has thus far been reported in only 26 cases of leukemias. Results: After 9 months of follow-up, the disease progressed and required treatment. Following alemtuzumab and chemotherapy, a short course of imatinib therapy stabilized the disease for six months, which was followed by progression and the demise of the patient. Conclusions: To the best of our knowledge, this is the first report of a mature T-cell lymphoma with a variant Philadelphia-translocation and a very rare type of BCR::ABL1 transcript. This case highlights the importance of comprehensive genetic testing of malignancies, as abnormal molecular pathways may be uncovered that may be specifically targeted by drugs. Full article

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Hematol. Rep., Volume 17, Issue 1 (February 2025) – 9 articles

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