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Further biological characterization of small molecules UM171 and SR1: In vitro effects on three hematopoietic cell populations from human cord blood. Blood Cell Mol. Dis. (IF 2.1) Pub Date : 2024-09-18 Patricia Flores-Guzman,Aranxa Torres-Caballero,Hector Mayani
Small molecules UM171 and SR1 have already been taken into clinically-oriented protocols for the ex vivo expansion of hematopoietic stem (HSCs) and progenitor (HPCs) cells. In order to gain further insight into their biology, in the present study we have assessed their effects, both individually and in combination, on the in vitro long-term proliferation and expansion of HSCs and HPCs contained within
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Growth hormone is involved in GATA1 gene expression via STAT5B in human erythroleukemia and monocytic cell lines. Blood Cell Mol. Dis. (IF 2.1) Pub Date : 2024-09-18 Mana Mitsutani,Mei Yokoyama,Hiromi Hano,Aoi Morita,Midori Matsushita,Tetsuya Tagami,Kenji Moriyama
GATAs are a family of transcription factors consisting of six members. Particularly, GATA1 and GATA2 have been reported to promote the development of erythrocytes, megakaryocytes, eosinophils, and mast cells. However, little information is available on the extracellular ligands that promote GATA1 expression. We evaluated whether growth hormone (GH) is an extracellular stimulator that participates in
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Phenotypic and genotypic evaluation of bleeding diagnostic dilemmas: Two case studies Blood Cell Mol. Dis. (IF 2.1) Pub Date : 2024-09-10 Sean X. Gu, Ayesha Butt, Vincent P. Schulz, Henry M. Rinder, Alfred I. Lee, Patrick G. Gallagher, John Hwa, Robert D. Bona
Inherited platelet disorders (IPDs) are a heterogeneous group of conditions that present significant challenges in diagnosis and management. Here, we report two cases of patients presenting with clinically significant bleeding but with unclear etiologies by conventional clinical laboratory testing. Further evaluation, utilizing a combination of high-dimensional multiplexed mass cytometry and genetic
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Corrigendum to “Outpatient ATG-free hematopoietic transplantation for severe aplastic anemia in limited-resource environments offers excellent results: Data from a single LATAM center” [Blood Cells, Mol. Dis. 109 (2024) 102885] Blood Cell Mol. Dis. (IF 2.1) Pub Date : 2024-09-06 José Carlos Jaime-Pérez, Mariana González-Treviño, Andrés Gómez-De León, Miguel A. Campos-Bocardo, Renata V. Barragán-Longoria, Olga Graciela Cantú-Rodríguez, César Homero Gutiérrez-Aguirre, David Gómez-Almaguer
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Outpatient ATG-free hematopoietic transplantation for aplastic anemia in limited-resource environments offers excellent results: Data from a single LATAM center Blood Cell Mol. Dis. (IF 2.1) Pub Date : 2024-08-20 José Carlos Jaime-Pérez, Mariana González-Treviño, Andrés Gómez-De León, Miguel A. Campos-Bocardo, Renata V. Barragán-Longoria, Olga Graciela Cantú-Rodríguez, César Homero Gutiérrez-Aguirre, David Gómez-Almaguer
To document the results of outpatient hematopoietic stem cell transplantation (HSCT) from the peripheral blood (PB) of sibling donors without anti-thymocyte globulin (ATG) in the conditioning regimen. Patients from a low-income population with severe AA who received a PB, unmanipulated sibling HLA-identical HSCT between 2000 and 2020 at a single institution were studied. Survival was the primary outcome
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Red cell distribution width as a bellwether of prognosis Blood Cell Mol. Dis. (IF 2.1) Pub Date : 2024-08-14 Marshall A. Lichtman
The red cell distribution width (RDW) is a standard variable reported in the complete blood count. It has been found to have a consistent relationship to life expectancy in older individuals, prognosis in patients with cardiovascular disease, outcome in those with hematological and non-hematological neoplasms and in a variety of medical circumstances such as non-cardiovascular or cancer related critical
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Clinical characteristics, laboratory features and genetic profile of hemoglobin E (HBB:c.79 G > A)/β (nucleotide -28 A > G) (HBB:c.-78 A > G) -thalassemia subjects identified from community- and hospital-recruited cohorts Blood Cell Mol. Dis. (IF 2.1) Pub Date : 2024-08-08 Piyatida Chumnumsiriwath, Prissana Charoenporn, Sawichayaporn Jermnim, Pawanrat Suannum, Monthira Samaisombat, Akamon Tapprom, Rawisut Deoisares, Peerapon Wong
Despite several existing laboratory-based studies of hemoglobin (Hb) E (HBB:c.79 G > A)/ β (nucleotide (NT) -28 A > G) (HBB:c.-78 A > G) -thalassemia, no reports have ever provided clinical severity information as well as dependency of blood transfusion. Previously, a comparative study of community- and hospital-recruited Hb E/β-thalassemia subjects was conducted in the lower northern Thailand between
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Erythrocyte deformability correlates with systemic inflammation Blood Cell Mol. Dis. (IF 2.1) Pub Date : 2024-08-02 Carmen Jacob, Lakeesha Piyasundara, Maria Bonello, Michael Nathan, Stefania Kaninia, Aravinthan Varatharaj, Noémi Roy, Ian Galea
Recent evidence suggests that systemic conditions, particularly those associated with inflammation, can affect erythrocyte deformability in the absence of haematological conditions. In this exploratory study, we investigated the relationship between systemic inflammatory status and erythrocyte deformability (using osmotic gradient ektacytometry) in a heterogenous study population consisting of individuals
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Clinical utility of relative telomere length analysis in pediatric bone marrow failure Blood Cell Mol. Dis. (IF 2.1) Pub Date : 2024-07-31 Shilpa Amatya, Prateek Bhatia, Sudhanshi Raina, Sreejesh Sreedharanunni, Minu Singh, Emine Rahman, M.V. Archana, Amita Trehan
Telomere length related studies are limited in pediatric marrow failure cases due to difficulty in establishing population specific age related normograms. Moreover, there is paucity of data related to clinical relevance of telomere length in idiopathic aplastic anemia (IAA) and non telomere biology inherited bone marrow failure syndrome (IBMFS) cases. Methodology: Hence, in current study we investigated
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The 50th anniversary of Blood Cells, Molecules and Diseases, 1975–2024 Blood Cell Mol. Dis. (IF 2.1) Pub Date : 2024-07-19 Marshall A. Lichtman
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Sickle cell disease in Indian tribal population: Findings of a multi-centre Indian SCD registry Blood Cell Mol. Dis. (IF 2.1) Pub Date : 2024-07-14 Yogita Sharma, Deepa Bhat, Parikipandla Sridevi, Shaily B. Surti, Manoranjan Ranjit, Jatin Sarmah, Godi Sudhakar, Bontha V. Babu
Sickle cell disease (SCD) registries provide crucial real-world data on demographics, epidemiology, healthcare, patient outcomes, and treatment efficacy. This paper presents findings from the Indian SCD Registry (ISCDR) on clinical manifestations, crisis episodes, disease management, and healthcare utilization in patients with SCD from 12 primary health centres (PHCs) in six tribal districts of India
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Accelerated phase development in a late-onset adolescent Chediak-Higashi syndrome patient caused by compound novel LYST mutations in the setting of SARS-CoV-2 infection Blood Cell Mol. Dis. (IF 2.1) Pub Date : 2024-07-11 Ping Guo, Xi Wu, Mingkang Yang, Yilun Xue, Jiakuan Zhou, Zhixi Huang, Wenman Wu, Jianbiao Wang
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive genetic disorder characterized by severe immunodeficiency, albinism and coagulation deficiency. Mostly diagnosed in early childhood, this devastating condition is associated with lysosomal abnormalities attributed to the absence or impaired function of lysosomal trafficking regulator caused by mutations in the gene. In current study, we report
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Molecular and biochemical evaluation of oxidative effects of cord blood CD34+ MPs on hematopoietic cells Blood Cell Mol. Dis. (IF 2.1) Pub Date : 2024-07-07 Zoi Katana, Kyriaki Sianidou, Gregory Kaiopoulos, Fani Deligianni, Sarantis Tsetsakos, Anastasia Kouvatsi, Ioanna Sakellari, Aristeidis Kritis, Maria Touraki, Damianos Sotiropoulos, Angeliki Xagorari
A graft source for allogeneic hematopoietic stem cell transplantation is umbilical cord blood, which contains umbilical cord blood mononuclear cells (MNCs and mesenchymal stem cells, both an excellent source of extracellular microparticles (MPs). MPs act as cell communication mediators, which are implicated in reactive oxygen species formation or detoxification depending on their origin. Oxidative
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Dysmorphic megakaryocytes in TAFRO syndrome: A case series from a single institute Blood Cell Mol. Dis. (IF 2.1) Pub Date : 2024-06-08 Shohei Maida, Hiromi Nakagawa, Hiroshi Ureshino, Kyoko Kajihara, Shinichi Yamazaki, Tatsuo Ichinohe
TAFRO syndrome is a rare systemic inflammatory disorder of unknown etiology characterized by thrombocytopenia, anasarca, fever, reticulin myelofibrosis, renal dysfunction, and organomegaly. The diagnosis of TAFRO syndrome can be challenging; however, prompt diagnosis is vital because TAFRO syndrome is a progressive and life-threatening disease. We have showcased five patients with TAFRO syndrome who
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Surgical procedures and complications in placement of totally implantable venous access port in pediatric hemophilia patients: A retrospective analysis Blood Cell Mol. Dis. (IF 2.1) Pub Date : 2024-06-07 Wei Cheng, Jinrui Zhang, Xipeng Wang, Guoqing Liu, Wanru Yao, Chunli Wang, Runhui Wu, Zhiqiang Li
This retrospective study at Beijing Children's Hospital (2020–2023) analyzed surgical procedures and complications in 24 pediatric hemophilia patients undergoing Totally Implantable Venous Access Port (TIVAP) insertion, primarily in the right jugular vein (RJV). We detailed the surgical process, including patient demographics and intraoperative imaging use. The choice of the RJV for TIVAP placement
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Diagnosis and management of acquired aplastic anemia in childhood. Guidelines from the Marrow Failure Study Group of the Pediatric Haemato-Oncology Italian Association (AIEOP) Blood Cell Mol. Dis. (IF 2.1) Pub Date : 2024-05-29 A. Guarina, P. Farruggia, E. Mariani, P. Saracco, A. Barone, D. Onofrillo, S. Cesaro, R. Angarano, W. Barberi, S. Bonanomi, P. Corti, B. Crescenzi, G. Dell'Orso, A. De Matteo, G. Giagnuolo, A.P. Iori, S. Ladogana, A. Lucarelli, M. Lupia, B. Martire, E. Mastrodicasa, E. Massaccesi, L. Arcuri, M.C. Giarratana, G. Menna, M. Miano, L.D. Notarangelo, G. Palazzi, E. Palmisani, S. Pestarino, F. Pierri, M
Acquired aplastic anemia (AA) is a rare heterogeneous disorder characterized by pancytopenia and hypoplastic bone marrow. The incidence is 2–3 per million population per year in the Western world, but 3 times higher in East Asia. Survival in severe aplastic anemia (SAA) has improved significantly due to advances in hematopoietic stem cell transplantation (HSCT), immunosuppressive therapy, biologic
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Mechanism of the apoptosis of bone marrow erythroblasts in rats under hypobaric hypoxia Blood Cell Mol. Dis. (IF 2.1) Pub Date : 2024-05-29 Jie Ma, Shengyan Wang, Huihui Liu, Jinjie Li, Sen Cui
This study aimed to investigate the mechanism of the apoptosis of erythroblasts in rat bone marrow after the exposure to hypobaric hypoxia. Male SD rats were randomly divided into three groups. The hypoxic group was kept in a hypobaric hypoxia chamber at a simulated altitude of 5000 m for 7 and 28 days, respectively. The control group was kept at an altitude of 2260 m. We found that myeloid: erythroid
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Differential effects of iron chelators on iron burden and long-term morbidity and mortality outcomes in a large cohort of transfusion-dependent β-thalassemia patients who remained on the same monotherapy over 10 years Blood Cell Mol. Dis. (IF 2.1) Pub Date : 2024-05-29 Khaled M. Musallam, Susanna Barella, Raffaella Origa, Giovanni Battista Ferrero, Roberto Lisi, Annamaria Pasanisi, Filomena Longo, Barbara Gianesin, Gian Luca Forni, Webthal® project
We conducted a retrospective cohort study on 663 transfusion-dependent β-thalassemia patients receiving the same iron chelation monotherapy with deferoxamine, deferiprone, or deferasirox for up to 10 years (median age 31.8 years, 49.9 % females). Patients on all three iron chelators had a steady and significant decline in serum ferritin over the 10 years (median deferoxamine: −170.7 ng/mL, = 0.049
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Aberrant baseline cytokine profile in patients with newly diagnosed acquired aplastic anaemia correlates with disease severity and the treatment response Blood Cell Mol. Dis. (IF 2.1) Pub Date : 2024-05-16 Rahul Vatsayan, Ankur Jain, Aditya Jandial, Parveen Bose, Man Updesh Singh Sachdeva, Neelam Varma, Arihant Jain, Gaurav Prakash, Alka Khadwal, Pankaj Malhotra
Immune dysregulation is crucial in the pathogenesis of acquired aplastic anaemia (aAA). There is paucity of data regarding correlation of baseline cytokine profile with treatment response in aAA. Present prospective case-control study aimed to correlate the baseline cytokines in patients with aAA with the treatment response. Fifty-one patients with newly-diagnosed aAA > 13 years of either sex were
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Daucosterol regulates JAK2-STAT3 signaling pathway to promote megakaryocyte differentiation Blood Cell Mol. Dis. (IF 2.1) Pub Date : 2024-05-16 Zhongkang Zhang, Guangbin Shang, Zhen Lu, Jia Hu, Huizhen Liu, Ting Lu, Xiaonan Lu
Immune thrombocytopenia (ITP) is an autoimmune disease caused by the loss of immune tolerance to platelet autoantigens, resulting in reduced platelet production and increased platelet destruction. Impaired megakaryocyte differentiation and maturation is a key factor in the pathogenesis and treatment of ITP. , a plant of the Chloranthaceae family, is commonly used in clinical practice to treat ITP,
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Extreme γ′ fibrinogen levels in COVID-19 patients Blood Cell Mol. Dis. (IF 2.1) Pub Date : 2024-04-26 Matthew Hudkins, Heather Hamilton, Samantha J. Underwood, Diana E. Kazmierczak, Elizabeth N. Dewey, Steven C. Kazmierczak, William B. Messer, Akram Khan, Martin A. Schreiber, David H. Farrell
COVID-19 disease progression can be accompanied by a “cytokine storm” that leads to secondary sequelae such as acute respiratory distress syndrome. Several inflammatory cytokines have been associated with COVID-19 disease progression, but have high daily intra-individual variability. In contrast, we have shown that the inflammatory biomarker γ' fibrinogen (GPF) has a 6-fold lower coefficient of variability
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Decreasing circ_0014614 promotes the differentiation of bone marrow flineage cells into megakaryocytes in essential thrombocythemia via activiation of miR-138-5p/caspase3 axis Blood Cell Mol. Dis. (IF 2.1) Pub Date : 2024-04-26 Guopan Yu, Xiaofan Chen, Weixiang Lu, Yanlin Li, Yanxiao Chen, Changxin Yin, Zhongxin Zheng, Xiaoshan Huang, Dan Xu
Circular RNAs (circRNA) are pivotal in hematological diseases. Previous study showed that circ_0014614 (circDAP3) was significantly underexpressed in bone marrow–derived exosomes from essential thrombocythemia (ET) patients, affecting the differentiation of bone marrow lineage cells into megakaryocytes. Fluorescence in situ hybridization (FISH) was used to display circ_0014614's primary cytoplasmic
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Endurance training and hydroxyurea have synergistic effects on muscle function and energetics in sickle cell disease mice Blood Cell Mol. Dis. (IF 2.1) Pub Date : 2024-03-29 Constance P. Michel, Laurent A. Messonnier, Benoit Giannesini, Christophe Vilmen, Joevin Sourdon, Yann Le Fur, David Bendahan
Sickle cell disease (SCD) is an hemoglobinopathy resulting in the production of an abnormal Hb (HbS) which can polymerize in deoxygenated conditions, leading to the sickling of red blood cells (RBC). These alterations can decrease the oxygen-carrying capacity leading to impaired function and energetics of skeletal muscle. Any strategy which could reverse the corresponding defects could be of interest
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PKLR mutations in pyruvate kinase deficient Polish patients: Functional characteristics of c.101-1G > A and c.1058delAAG variants Blood Cell Mol. Dis. (IF 2.1) Pub Date : 2024-03-26 Karolina Maciak, Aneta Jurkiewicz, Wojciech Strojny, Anna Adamowicz-Salach, Magdalena Romiszewska, Teresa Jackowska, Kinga Kwiecinska, Jaroslaw Poznanski, Monika Gora, Beata Burzynska
Pyruvate kinase (PK) deficiency is a rare autosomal recessive disorder characterized by chronic hemolytic anemia of variable severity. Nine Polish patients with severe hemolytic anemia but normal PK activity were found to carry mutations in the gene encoding PK, five already known ones and one novel (c.178C > T). We characterized two of the known variants by molecular modeling (c.1058delAAG) and minigene
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Platelet activation and blood extracellular vesicles: The influence of venepuncture and short blood storage Blood Cell Mol. Dis. (IF 2.1) Pub Date : 2024-03-13 Ivica Marić, Klemen Žiberna, Ana Kolenc, Elvira Maličev
Extracellular vesicles (EVs) as membrane-bound particles released by various cells are potential tools for diagnosis and treatment. Blood cells, particularly platelets, are the source of circulating EVs. EVs were enriched with gradient ultracentrifugation and measured by nanoparticle tracking assay. A flow cytometric multiplex assay was used for cellular source determination. Activation of platelets
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Response to commentary on “Unmasking the morphological alteration of erythrocytes among women suffering from PCOS” Blood Cell Mol. Dis. (IF 2.1) Pub Date : 2024-02-29 Sutithi Dey, Rajen Haldar
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Commentary on “unmasking the morphological alteration of erythrocytes among women suffering from PCOS” Blood Cell Mol. Dis. (IF 2.1) Pub Date : 2024-02-28 Shuwei Fan, Guomei Shi, Kelan Li
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Diamond-Blackfan anemia, the archetype of ribosomopathy: How distinct is it from the other constitutional ribosomopathies? Blood Cell Mol. Dis. (IF 2.1) Pub Date : 2024-02-17 L. Da Costa, Narla Mohandas, Ludivine David-NGuyen, Jessica Platon, Isabelle Marie, Marie Françoise O'Donohue, Thierry Leblanc, Pierre-Emmanuel Gleizes
Diamond-Blackfan anemia (DBA) was the first ribosomopathy described in humans. DBA is a congenital hypoplastic anemia, characterized by macrocytic aregenerative anemia, manifesting by differentiation blockage between the BFU-e/CFU-e developmental erythroid progenitor stages. In 50 % of the DBA cases, various malformations are noted. Strikingly, for a hematological disease with a relative erythroid
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Rare bleeding disorders: Real-world data from a Spanish tertiary hospital Blood Cell Mol. Dis. (IF 2.1) Pub Date : 2024-02-15 Daniel Martínez-Carballeira, Alberto Caro, Ángel Bernardo, José Ramón Corte, José Carlos Iglesias, Isabel Asunción Hernández de Castro, Laura Gutiérrez, Inmaculada Soto
Due to their low prevalence, rare bleeding disorders (RBDs) remain poorly characterized. To gain insight of RBDs through our clinical practice. Retrospective study of the medical records of RBD patients followed up at the Central University Hospital of Asturias between January 2019 and December 2022. A total of 149 patients were included. Factor (F) VII (44 %) and FXI (40 %) deficiencies were the most
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Unveiling mortality risk factors in paediatric sickle cell disease patients during acute crises in the Democratic Republic of the Congo Blood Cell Mol. Dis. (IF 2.1) Pub Date : 2024-01-20 Paul Muteb Boma, Stéphanie Luntadila Ngimbi, Junior Makiese Kindundu, Jean Israël Wela, Nathalie Lukanke Ngoie, Valentin Mukeba Ngwamah, Sandra Mbuyi Tshiswaka, Joséphine Kalenga Monga, Jules Mulefu Panda, Bruno Bonnechère
Sickle cell disease (SCD) is a significant health burden in the Democratic Republic of the Congo (DRC). This study aims to identify predictive factors of mortality in SCD children admitted to emergency care in Lubumbashi, DRC. We performed a non-interventional cohort follow-up on SCD patients aged 0 to 16 admitted for a “true emergency”. Demographic, clinical, and biological data were collected. Univariate
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A comparative study of two routinely used protocols for ex vivo erythroid differentiation Blood Cell Mol. Dis. (IF 2.1) Pub Date : 2024-01-23 Auria Godard, Robert Seute, Alexandra Grimaldi, Thomas Granier, Jacques Chiaroni, Wassim El Nemer, Maria De Grandis
Erythropoiesis is a complex developmental process in which a hematopoietic stem cell undergoes serial divisions and differentiates through well-defined stages to give rise to red blood cells. Over the last decades, several protocols have been developed to perform erythroid differentiation, allowing investigation into erythropoiesis and red cell production in health and disease. In the current study
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Effect of voxelotor on murine bone marrow and peripheral blood with hematopoietic progenitor cell mobilization for gene therapy of sickle cell disease Blood Cell Mol. Dis. (IF 2.1) Pub Date : 2024-01-19 Avital Mendelson, Yunfeng Liu, Weili Bao, Patricia A. Shi
In preparation for hematopoietic stem cell mobilization and collection, current ex vivo gene therapy protocols for sickle cell disease require patients to undergo several months of chronic red cell transfusion. For health care equity, alternatives to red cell transfusion should be available. We examined whether treatment with GBT1118, the murine analog of voxelotor, could be a safe and feasible alternative
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Investigation of the cytotoxicity, genotoxicity and antioxidant prospects of JM-20 on human blood cells: A multi-target compound with potential therapeutic applications Blood Cell Mol. Dis. (IF 2.1) Pub Date : 2024-01-19 Fernanda D'Avila da Silva, Maria Eduarda de Andrade Galiciolli, Ana Carolina Irioda, Cláudia Sirlene Oliveira, Bruna Candia Piccoli, Alessandro de Souza Prestes, Bruna Cogo Borin, Andre Passaglia Schuch, Estael Ochoa-Rodríguez, Yanier Nuñez-Figueredo, João Batista Teixeira da Rocha
JM-20 is a 1,5-benzodiazepine compound fused to a dihydropyridine fraction with different pharmacological properties. However, its potential toxic effects on blood cells have not yet been reported. Thus, the present study aimed to investigate, for the first time, the possible cytotoxicity of JM-20 through cell viability, cell cycle, morphology changes, reactive species (RS) to DCFH-DA, and lipid peroxidation
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Bio-net dataset: AI-based diagnostic solutions using peripheral blood smear images Blood Cell Mol. Dis. (IF 2.1) Pub Date : 2024-01-04 Usman Ali Shams, Isma Javed, Muhammad Fizan, Aqib Raza Shah, Ghulam Mustafa, Muhammad Zubair, Yehia Massoud, Muhammad Qasim Mehmood, Muhammad Asif Naveed
Peripheral blood smear examination is one of the basic steps in the evaluation of different blood cells. It is a confirmatory step after an automated complete blood count analysis. Manual microscopy is time-consuming and requires professional laboratory expertise. Therefore, the turn-around time for peripheral smear in a health care center is approximately 3–4 hours. To avoid the traditional method
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Characterization of a cohort of Angolan children with sickle cell anemia treated with hydroxyurea Blood Cell Mol. Dis. (IF 2.1) Pub Date : 2024-01-04 Brígida Santos, Catarina Ginete, Elisângela Gonçalves, Mariana Delgadinho, Armandina Miranda, Paula Faustino, Ana Paula Arez, Miguel Brito
Background Sickle Cell Anemia (SCA) is a monogenic disease, although its severity and response to treatment are very heterogeneous. Objectives This study aims to characterize a cohort of Angolan children with SCA and evaluate their response to hydroxyurea (HU) treatment and the potential side effects and toxicity. Methods The study enrolled 215 patients between 3 and 12 years old before and after the
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Unmasking the morphological alteration of erythrocytes among women suffering from PCOS Blood Cell Mol. Dis. (IF 2.1) Pub Date : 2024-01-03 Sutithi Dey, Ipsita Chakraborty, Payel Biswas, Ayantika Paul, Pratip Chakraborty, Rajen Haldar
Dyslipidemia is frequently observed in polycystic ovarian syndrome (PCOS). Changes in plasma lipid levels potentially alter erythrocyte membrane lipid composition due to lack of inbuilt lipid synthesis machinery. Therefore, development of morphologically altered erythrocytes in PCOS patients with dyslipidemia is expected. However, this has not been established so far. So, we took this opportunity to
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Measurement of red cell, plasma and blood volume: Essential components of diagnostic and research studies of oxygen transport Blood Cell Mol. Dis. (IF 2.1) Pub Date : 2023-12-07 Marshall A. Lichtman, Josef T. Prchal
Abstract not available
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Clonal hematopoiesis and acquired genetic abnormalities of the red cell: An historical review Blood Cell Mol. Dis. (IF 2.1) Pub Date : 2023-11-05 Marshall A. Lichtman
Several syndromes affecting the red cell that mimic those induced by germline mutations may result from a somatic mutation that accompanies a myeloid malignancy. These syndromes are most notable in cases of myelodysplastic syndrome, but they are not limited to any one category of myeloid neoplasm. Their occurrence in males exceed the male predominance that is evident in myeloid neoplasms. The syndromes
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Calcium flux alterations in erythrocytes from sickle cell mice: The relevance of mean corpuscular volume Blood Cell Mol. Dis. (IF 2.1) Pub Date : 2023-11-02 Luis E.F. Almeida, Meghann L. Smith, Sayuri Kamimura, Sebastian Vogel, Zenaide M.N. Quezado
Red blood cells (RBC) from patients with sickle cell disease (SCD) have elevated calcium levels at baseline, which are further elevated upon deoxygenation. Here we examined baseline calcium levels and calcium flux in RBCs from a mouse model of SCD mice. We found that akin to humans with SCD, sickle (HbSS) Townes mice, have higher baseline levels and increased calcium flux in RBCs compared to control
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Antineoplastic effects of pharmacological inhibitors of aurora kinases in CSF3RT618I-driven cells Blood Cell Mol. Dis. (IF 2.1) Pub Date : 2023-10-09 Natália Sudan Parducci, Anali Del Milagro Bernabe Garnique, Keli Lima, Jorge Antonio Elias Godoy Carlos, Natasha Peixoto Fonseca, Lívia Bassani Lins de Miranda, Bruna Oliveira de Almeida, Eduardo Magalhães Rego, Fabiola Traina, João Agostinho Machado-Neto
Myeloproliferative neoplasms (MPN) are consolidated as a relevant group of diseases derived from the malfunction of the hematopoiesis process and have as a particular attribute the increased proliferation of myeloid lineage. Among these, chronic neutrophilic leukemia (CNL) is distinguished, caused by the T618I mutation of the CSF3R gene, a trait that generates ligand-independent receptor activation
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The role of PKC in X-ray-induced megakaryocyte apoptosis and thrombocytopenia Blood Cell Mol. Dis. (IF 2.1) Pub Date : 2023-10-04 Fanbi Meng, Shuang Chen, Chunliang Liu, Muhammad Shoaib Khan, Yan Yan, Jun Wan, Yue Xia, Chenglin Sun, Mengnan Yang, Renping Hu, Kesheng Dai
Thrombocytopenia is a critical complication after radiation therapy and exposure. Dysfunction of megakaryocyte development and platelet production are key pathophysiological stages in ionizing radiation (IR)-induced thrombocytopenia. Protein kinase C (PKC) plays an important role in regulating megakaryocyte development and platelet production. However, it remains unclear how PKC regulates IR-induced
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First report of a patient with homozygous hemoglobin Ernz: Evidence to support a non-pathogenic variant Blood Cell Mol. Dis. (IF 2.1) Pub Date : 2023-09-29 Zohreh Shojaei, Maryam Abiri, Fatemeh Zafarghandi Motlagh, Masoume Amini, Samira Dabbagh Bagheri, Sadaf Asnavandi, Sedighe Asadi, Hamideh Bagherian, Sirous Zeinali
Hemoglobin Ernz (Hb Ernz) is a missense variant in β-globin caused by a Threonine to Asparagine substitution at the 123rd amino acid position and HBB c.371C > A in gene level. Hb Ernz has been classified as Uncertain Significance (VUS) by ACMG due to limited reports and the absence of any homozygote genotypes. In our study, we found eight cases of Hb Ernz by DNA sequencing of the β-globin gene during
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Severe clinical picture in a cohort of six Brazilian children with hemoglobin Sβ-thalassemia IVS-I-5 G > A Blood Cell Mol. Dis. (IF 2.1) Pub Date : 2023-08-30 Marcos Borato Viana, Érica Louback de Oliveira, André Rolim Belisário
Abstract not available
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Discovery of seven hox genes in zebrafish thrombopoiesis Blood Cell Mol. Dis. (IF 2.1) Pub Date : 2023-08-30 Hemalatha Sundaramoorthi, Weam Fallatah, Jabila Mary, Pudur Jagadeeswaran
Thrombopoiesis is the production of platelets from megakaryocytes in the bone marrow of mammals. In fish, thrombopoiesis involves the formation of thrombocytes without megakaryocyte-like precursors but derived from erythrocyte thrombocyte bi-functional precursor cells. One unique feature of thrombocyte differentiation involves the maturation of young thrombocytes in circulation. In this study, we investigated
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Molecular and clinical characterization of two unrelated families with factor V deficiency, including a novel nonsense variant (p.Gln1532*) Blood Cell Mol. Dis. (IF 2.1) Pub Date : 2023-08-24 Ke Zhang, Longying Ye, Yanhui Jin, Yuan Chen, Shuting Jiang, Haixiao Xie, Lihong Yang, Mingshan Wang
Background Factor V (FV) is an essential cofactor in the coagulation cascade. The characterization of novel mutations is advantageous for the clinical management of FV-deficient patients. Methods Coagulation screening and thrombin generation assay were performed with the plate-poor plasma. All 25 exons of the F5 gene were amplified and sequenced. The ClustalX-2.1 software was applied to the multiple
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Outcome of first or second transplantation using unrelated umbilical cord blood without ATG conditioning regimen for pediatric bone marrow failure disorders Blood Cell Mol. Dis. (IF 2.1) Pub Date : 2023-08-25 Xia Chen, Fang Liu, Yuanyuan Ren, Luyang Zhang, Yang Wan, Wenyu Yang, Xiaojuan Chen, Li Zhang, Yao Zou, Yumei Chen, Xiaofan Zhu, Ye Guo
Background Unrelated umbilical cord blood transplantation (UCBT) for bone marrow failure (BMF) disorders using conditioning regimens without Anti-Thymocyte Globulin (ATG) has been used as an alternative transplantation for emerging patients without matched-sibling donors. Experience with this transplant modality in children is limited, especially as a secondary treatment for transplant failure patients
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Bach1 inhibitor HPP-D mediates γ-globin gene activation in sickle erythroid progenitors Blood Cell Mol. Dis. (IF 2.1) Pub Date : 2023-08-17 Chithra D. Palani, Xingguo Zhu, Manickam Alagar, Otis C. Attucks, Betty S. Pace
Sickle cell disease (SCD) is the most common β-hemoglobinopathy caused by various mutations in the adult β-globin gene resulting in sickle hemoglobin production, chronic hemolytic anemia, pain, and progressive organ damage. The best therapeutic strategies to manage the clinical symptoms of SCD is the induction of fetal hemoglobin (HbF) using chemical agents. At present, among the Food and Drug Adm
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Genetic examination of hematological parameters in SARS-CoV-2 infection and COVID-19 Blood Cell Mol. Dis. (IF 2.1) Pub Date : 2023-07-20 Quan Sun, Bryce Rowland, Wanjiang Wang, Tyne W. Miller-Fleming, Nancy Cox, Misa Graff, Annika Faucon, Megan M. Shuey, Elizabeth E. Blue, Paul Auer, Yun Li, Vijay G. Sankaran, Alexander P. Reiner, Laura M. Raffield
People hospitalized with COVID-19 often exhibit altered hematological traits associated with disease prognosis (e.g., lower lymphocyte and platelet counts). We investigated whether inter-individual variability in baseline hematological traits influences risk of acute SARS-CoV-2 infection or progression to severe COVID-19. We report inconsistent associations between blood cell traits with incident SARS-CoV-2
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Next generation sequencing (NGS) interest in deciphering erythrocyte molecular defects' association in red cell disorders: Clinical and erythrocyte phenotypes of patients with mutations inheritance in PIEZO1, Spectrin ß1, RhAG and SLC4A1 Blood Cell Mol. Dis. (IF 2.1) Pub Date : 2023-07-20 Benoit Allegrini, Ludivine David NGuyen, Morgane Mignotet, Catherine Etchebest, Odile Fenneteau, Jessica Platon, Anne Lambilliotte, Hélène Guizouarn, Lydie Da Costa
We report here an instructive case referred at 16 months-old for exploration of hemolysis without anemia (compensated anemia with reticulocytosis). The biology tests confirmed the hemolysis with increased total and indirect bilirubin. The usual hemolysis diagnosis tests were normal (DAT, G6PD, PK, Hb electrophoresis) except cytology and ektacytometry suggesting an association of multiple red blood
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Up-regulation of microRNA 101-3p during erythropoiesis in β-thalassemia/HbE Blood Cell Mol. Dis. (IF 2.1) Pub Date : 2023-07-17
Ineffective erythropoiesis is the main cause of anemia in β-thalassemia. The crucial hallmark of ineffective erythropoiesis is the high proliferation of erythroblast. microRNA (miR/miRNA) involves several biological processes, including cell proliferation and erythropoiesis. miR-101 was widely studied and associated with proliferation in several types of cancer. However, the miR-101-3p has not been
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A stepwise diagnostic approach for undiagnosed Anemia in children: A model for low-middle income country Blood Cell Mol. Dis. (IF 2.1) Pub Date : 2023-07-16 Nihal Hussien Aly, Mohsen Saleh Elalfy, Safinaz Adel Elhabashy, Nadia Mohamed Mowafy, Roberta Russo, Immacolata Andolfo, Achille Iolascon, Iman Ahmed Ragab
Background Reaching a precise diagnosis in rare inherited anemia is extremely difficult and challenging, especially in areas with limited use of genetic studies, which makes undiagnosed anemia a unique clinical entity in tertiary hematology centers. In this study, we aim at plotting a stepwise diagnostic approach in children with undiagnosed anemia while identifying indications for genetic testing
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Acquired elliptocytosis in chronic myeloid neoplasms: An enigmatic relationship to acquired red cell membrane protein and genetic abnormalities Blood Cell Mol. Dis. (IF 2.1) Pub Date : 2023-06-22 Marshall A. Lichtman, Ronald Sham
Nineteen reports of 41 cases of acquired red cell elliptocytosis associated with a chronic myeloid neoplasm are described. Although the majority of cases have an abnormality of the long arm of chromosome 20, del(q20), several cases do not. Moreover, in one case a specific qualitative abnormality of red cell protein band 4.1(4.1R) was reported; however, several subsequent cases could find no abnormality
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Hypoferremia of inflammation: Innate host defense against infections Blood Cell Mol. Dis. (IF 2.1) Pub Date : 2023-06-21 Tomas Ganz, Elizabeta Nemeth
Iron is an essential nutrient for microbes, plants and animals. Multicellular organisms have evolved multiple strategies to control invading microbes by restricting microbial access to iron. Hypoferremia of inflammation is a rapidly-acting organismal response that prevents the formation of iron species that would be readily accessible to microbes. This review takes an evolutionary perspective to explore
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Mouse models of sickle cell disease: Imperfect and yet very informative Blood Cell Mol. Dis. (IF 2.1) Pub Date : 2023-06-17 Sayuri Kamimura, Meghann Smith, Sebastian Vogel, Luis E.F. Almeida, Swee Lay Thein, Zenaide M.N. Quezado
The root cause of sickle cell disease (SCD) has been known for nearly a century, however, few therapies to treat the disease are available. Over several decades of work, with advances in gene editing technology and after several iterations of mice with differing genotype/phenotype relationships, researchers have developed humanized SCD mouse models. However, while a large body of preclinical studies
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Essential genetic modifiers and their measurable impact in a community-recruited population analysis for non-severe hemoglobin E/β-thalassemia prenatal genetic counseling Blood Cell Mol. Dis. (IF 2.1) Pub Date : 2023-06-15 Peerapon Wong, Thirabhat Chitsobhak, Suporn Jittasathian, Chonnigarn Sirichantharawat, Naritsara Cherdchoo, Weerapong Prangcharoen, Patcharanapa Jongautchariyakul, Katechan Jampachaisri, Akamon Tapprom, Rawisut Deoisares, Piyatida Chumnumsiriwath
The study aimed to identify essential phenotype-modulating factors among the pre-existence of several important ones and clarify their measurable impact on the clinical severity of hemoglobin (Hb) E/β-thalassemia in a community-recruited population analysis. This prospective study was designed to compare modifiers between community- (less or no symptoms) and hospital-recruited individuals with Hb E/β-thalassemia
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Molecular characterization of a novel 83.9-kb deletion of the α-globin upstream regulatory elements by long-read sequencing Blood Cell Mol. Dis. (IF 2.1) Pub Date : 2023-06-10 Jianjiang Feng, Aiping Mao, Ye Lu, Haihong Shi, Wanli Meng, Chen Liang
Inherited deletions of upstream regulatory elements of α-globin genes give rise to α-thalassemia, which is an autosomal recessive monogenic disease. However, conventional thalassemia target diagnosis often fails to identify these rare deletions. Here we reported a family with two previous pregnancies of Hb Bart's hydrops fetalis and was seeking for prenatal diagnosis during the third pregnancy. Both