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Platelet activation and blood extracellular vesicles: The influence of venepuncture and short blood storage Blood Cell Mol. Dis. (IF 2.3) 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 2.3) 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 2.3) 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 2.3) 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 are generative 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 2.3) 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 2.3) 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 2.3) Pub Date : 2024-01-23 Auria Godard, Robert Seute, Alexandra Grimaldi, Thomas Granier, Jacques Chiaroni, Wassim El Nemer, Maria De Grandis
Background 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 ex vivo erythroid differentiation, allowing investigation into erythropoiesis and red cell production in health and disease. Results
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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 2.3) 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 2.3) 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 2.3) 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 2.3) 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 2.3) 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 2.3) 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 2.3) 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 2.3) 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 2.3) 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 2.3) 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 2.3) 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 2.3) 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 2.3) 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 2.3) 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 2.3) 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 2.3) 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 2.3) 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 2.3) 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 2.3) 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 2.3) 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 2.3) 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 2.3) 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 2.3) 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 2.3) 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 2.3) 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
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The utility of multiple genomic technologies for interpretation of modern next generation sequencing: A novel case of three FANCA gene variants resulting in autosomal recessive Fanconi anaemia Blood Cell Mol. Dis. (IF 2.3) Pub Date : 2023-05-31 J. Coleman, A.J. Green, L. Bradley
Fanconi anaemia (FA) is a rare autosomal recessive condition resulting in changes in the FANC gene family. This report describes a case of Fanconi anaemia in a family with complex biallelic variants. The patient is a 32-year-old female diagnosed with FA on cascade testing during childhood with chromosome breakage studies. On examination she had a fixed deformity of the right thumb and the proximal
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Two new mutations in the GLRX5 gene cause sideroblastic anemia Blood Cell Mol. Dis. (IF 2.3) Pub Date : 2023-06-02 Andrés Felipe Melo Arias, Silvia Escribano Serrat, Jorge Martínez Nieto, Fiorella Medina Salazar, Paloma Ropero Gradilla, Celina Benavente Cuesta, Fernando Ataúlfo González Fernández
Abstract not available
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Targeting of Calbindin 1 rescues erythropoiesis in a human model of Diamond Blackfan anemia Blood Cell Mol. Dis. (IF 2.3) Pub Date : 2023-05-26 Nan Wang, Corinne LaVasseur, Rao Riaz, Julien Papoin, Lionel Blanc, Anupama Narla
Diamond Blackfan anemia (DBA) is an inherited bone marrow failure syndrome characterized by congenital anomalies, cancer predisposition and a severe hypo-proliferative anemia. It was the first disease linked to ribosomal dysfunction and >70 % of patients have been identified to have a haploinsufficiency of a ribosomal protein (RP) gene, with RPS19 being the most common mutation. There is significant
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The inhibitor of MyoD Family A (I-MFA) regulates megakaryocyte lineage commitment and terminal differentiation Blood Cell Mol. Dis. (IF 2.3) Pub Date : 2023-05-27 Jeremy S. Houser, Maulin Patel, Kyle Wright, Marta Onopiuk, Leonidas Tsiokas, Mary Beth Humphrey
Hematopoiesis and lineage commitment are regulated by several conserved cell-intrinsic signaling pathways, including MAPKs and β-catenin/TCF/LEF. The Inhibitor of MyoD Family A (I-MFA), a transcriptional repressor and tumor suppressor gene, interacts with these pathways and is dysregulated in chronic and acute myeloid leukemias, suggesting it may play a role in development and differentiation during
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Cellular and animal models for the investigation of β-thalassemia Blood Cell Mol. Dis. (IF 2.3) Pub Date : 2023-05-30 Antonella Nai, Celia Cordero-Sanchez, Emanuele Tanzi, Alessia Pagani, Laura Silvestri, Simona Maria Di Modica
β-Thalassemia is a genetic form of anemia due to mutations in the β-globin gene, that leads to ineffective and extramedullary erythropoiesis, abnormal red blood cells and secondary iron-overload. The severity of the disease ranges from mild to lethal anemia based on the residual levels of globins production. Despite being a monogenic disorder, the pathophysiology of β-thalassemia is multifactorial
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Drinking recommended daily water significantly alters haemato-biochemical parameters in prospective blood donors; a one-center quasi-experimental study in a tropical setting Blood Cell Mol. Dis. (IF 2.3) Pub Date : 2023-05-25 Bright Kekeli Gbadago, Juliet Antiaye, Joseph Boachie, Patrick Adu
Background In sub-Saharan Africa, the prevailing high ambient temperatures should warrant increased daily water intake (DWI) to prevent haemo-concentration and its potential to confound patients' laboratory data. Aim To assess the impact that the recommended DWI has on the haemato-biochemical variables in a tropical setting. Materials and methods This quasi-experimental study recruited 101 apparently
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Prevalence of SARS-CoV-2 in hemoglobinopathies is modified by age and race Blood Cell Mol. Dis. (IF 2.3) Pub Date : 2023-05-19 Jennifer K. Frediani, Ezra Pak-Harvey, Richard Parsons, Adrianna L. Westbrook, William O'Sick, Greg S. Martin, Wilbur A. Lam, Joshua M. Levy
Prior literature has established a positive association between sickle cell disease and risk of contracting SARS-CoV-2. Data from a cross-sectional study evaluating COVID-19 testing devices (n = 10,567) was used to examine the association between underlying health conditions and SARS-CoV-2 infection in an urban metropolis in the southern United States. Firth's logistic regression was used to fit the
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Inherited disorders of hemoglobin: A review of old and new diagnostic methods Blood Cell Mol. Dis. (IF 2.3) Pub Date : 2023-05-18 Emily Franco, Kristine A. Karkoska, Patrick T. McGann
The genetic regulation of hemoglobin is complex and there are a number of genetic abnormalities that result in clinically important hemoglobin disorders. Here, we review the molecular pathophysiology of hemoglobin disorders and review both old and new methods of diagnosing these disorders. Timely diagnosis of hemoglobinopathies in infants is essential to coordinate optimal life-saving interventions
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High-throughput methods for the analysis of transcription factors and chromatin modifications: Low input, single cell and spatial genomic technologies Blood Cell Mol. Dis. (IF 2.3) Pub Date : 2023-04-25 Mohammad Salma, Charlotte Andrieu-Soler, Virginie Deleuze, Eric Soler
Genome-wide analysis of transcription factors and epigenomic features is instrumental to shed light on DNA-templated regulatory processes such as transcription, cellular differentiation or to monitor cellular responses to environmental cues. Two decades of technological developments have led to a rich set of approaches progressively pushing the limits of epigenetic profiling towards single cells. More
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γ′ fibrinogen levels as a biomarker of COVID-19 respiratory disease severity Blood Cell Mol. Dis. (IF 2.3) Pub Date : 2023-04-28 Lucy Z. Kornblith, Bindhya Sadhanandhan, Sreepriya Arun, Rebecca Long, Alicia J. Johnson, Jamie Noll, C.N. Ramchand, John K. Olynyk, David H. Farrell
Coronavirus disease 2019 (COVID-19) is characterized by a pro-inflammatory state associated with organ failure, thrombosis, and death. We investigated a novel inflammatory biomarker, γ′ fibrinogen (GPF), in 103 hospitalized patients with COVID-19 and 19 healthy controls. We found significant associations between GPF levels and the severity of COVID-19 as judged by blood oxygen saturation (SpO2). The
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Corrigendum to “Impact of maternal iron deficiency anemia on fetal iron status and placental iron transporters in human pregnancy” [Blood Cells Mol. Dis. 99 (2023) 102727] Blood Cell Mol. Dis. (IF 2.3) Pub Date : 2023-04-23 Sreenithi Santhakumar, Rekha Athiyarath, Anne George Cherian, Vinod Joseph Abraham, Biju George, Paweł Lipiński, Eunice Sindhuvi Edison
Abstract not available
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Characterization of peripheral blood T follicular helper (TFH) cells in patients with type 1 Gaucher disease and carriers Blood Cell Mol. Dis. (IF 2.3) Pub Date : 2023-02-02
Background Gaucher disease (GD) is the most common autosomal recessive lipid storage disease. In this study, the changes in TFH cells and IL-4 and IL-21 cytokines in blood samples of GD patients, carriers and healthy volunteers were investigated. Methods Two pretreatment type 1 GD patients, 20 currently treated type 1 GD patients, 6 carriers, and 27 healthy volunteers were enrolled in the study. TFH
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Impact of maternal iron deficiency anemia on fetal iron status and placental iron transporters in human pregnancy Blood Cell Mol. Dis. (IF 2.3) Pub Date : 2023-01-27 Sreenithi Santhakumar, Rekha Athiyarath, Anne George Cherian, Vinod Joseph Abraham, Biju George, Paweł Lipiński, Eunice Sindhuvi Edison
Iron deficiency anemia is associated with maternal morbidity and poor pregnancy outcomes. Heme and non-heme iron transport proteins expressed in the placenta help in adequate iron supply from anemic mother to fetus. Here we examined the expression of placental iron trafficking molecules and their association with maternal and neonatal iron status in pregnant women with iron deficiency anemia (IDA)
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Hematologically important mutations: Leukocyte adhesion deficiency (second update) Blood Cell Mol. Dis. (IF 2.3) Pub Date : 2023-01-20 Dirk Roos, Karin van Leeuwen, Manisha Madkaikar, Priyanka M. Kambli, Maya Gupta, Vikram Mathews, Amit Rawat, Douglas B. Kuhns, Steven M. Holland, Martin de Boer, Hirokazu Kanegane, Nima Parvaneh, Myriam Lorenz, Klaus Schwarz, Christoph Klein, Roya Sherkat, Mahbube Jafari, Baruch Wolach, Johan T. den Dunnen, Taco W. Kuijpers, M. Yavuz Köker
Leukocyte adhesion deficiency (LAD) is an immunodeficiency caused by defects in the adhesion of leukocytes (especially neutrophils) to the blood vessel wall. As a result, patients with LAD suffer from severe bacterial infections and impaired wound healing, accompanied by neutrophilia. In LAD-I, characterized directly after birth by delayed separation of the umbilical cord, mutations are found in ITGB2
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Effects of d-ribose on human erythrocytes: Non-enzymatic glycation of hemoglobin, eryptosis, oxidative stress and energy metabolism Blood Cell Mol. Dis. (IF 2.3) Pub Date : 2023-01-13 Zehong Zhang, Yu Tai, Zhi Liu, Yunxia Pu, Liang An, Xiaojing Li, Lili Li, Yaqi Wang, Zhongbin Yang, Chao Duan, Kun Hou, Qing Zhang, Fuyu Ren, Qiang Ma, Yan Su
d-Ribose is not only an important component of some biomacromolecules, but also an active pentose with strong reducibility and non-enzymatic glycation ability. Previous studies reported the diverse role of d-ribose in different cells. In this study, the effects of d-ribose on non-enzymatic glycation of hemoglobin (Hb), as well as eryptosis, oxidative stress and energy metabolism of erythrocytes were
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Daratumumab as a novel treatment option in refractory ITP Blood Cell Mol. Dis. (IF 2.3) Pub Date : 2023-01-13 Ilze Vernava, Clemens A. Schmitt
Primary immune thrombocytopenia (ITP) in adult patients typically presents as a repeatedly relapsing disease in need of multiple lines of therapy. Here we report the clinical courses of two patients, an 82-year-old female and a 54-year-old male, with primary ITP after multiple relapses and exhausted standard therapies, which we treated with the myeloma-licensed anti-CD38 monoclonal antibody daratumumab
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Neoplastic bone marrow invasion:rapid exclusion of hematological disease by flow cytometric routine panels Blood Cell Mol. Dis. (IF 2.3) Pub Date : 2022-11-26 Maria Laura Bisegna, Iole Cordone, Nadia Peragine, Maria Laura Milani, Stefania Intoppa, Paolo de Fabritiis, Maurizio Martelli, Maria Stefania De Propris
Multiparametric flow cytometry is an extensively used technique to assess the presence of different cellular populations in immunology and hematology. During routine immunophenotyping analysis, it is not uncommon to face cells of non-hemopoietic origin, negative for CD45 and other myeloid, megakaryocytic, B and T lineage antigens and positive for at least one antibody among CD56, CD117 and CD138. If
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Development of a Thalassemia International Prognostic Scoring System (TIPSS) Blood Cell Mol. Dis. (IF 2.3) Pub Date : 2022-11-25 Angela Vitrano, Khaled M. Musallam, Antonella Meloni, Mehran Karimi, Shahina Daar, Paolo Ricchi, Silvia Costantini, Efthymia Vlachaki, Vito Di Marco, Amal El-Beshlawy, Mahmoud Hajipour, Saqib Hussain Ansari, Aldo Filosa, Adriana Ceci, Sylvia Titi Singer, Zaki A. Naserullah, Alessia Pepe, Filippo Cademartiri, Sebastiano Addario Pollina, Salvatore Scondotto, Aurelio Maggio
A prognostic scoring system that can differentiate β-thalassemia patients based on mortality risk is lacking. We analysed data from 3145 β-thalassemia patients followed through a retrospective cohort design for the outcome of death. An a priori list of prognostic variables was collected. β Coefficients from a multivariate cox regression model were used from a development dataset (n = 2516) to construct
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Rheumatological manifestations of chronic graft versus host disease - Case series Blood Cell Mol. Dis. (IF 2.3) Pub Date : 2022-11-08 Jarosław Sabela, Jakub Wroński, Ewa Karakulska-Prystupiuk, Grzegorz Basak, Małgorzata Stasiek, Agnieszka Zielińska
Objectives To present the rheumatological manifestations of chronic graft versus host disease (cGVHD) and describe how they differ from primary systemic connective tissue diseases. Methods Description of 7 patients with cGVHD with symptoms resembling Sjögren's syndrome and scleroderma, with a critical review of the literature. Results 7 patients treated at the hematology department, who developed cGVHD
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Plasma exosomal microRNA expression profiles in patients with high-altitude polycythemia Blood Cell Mol. Dis. (IF 2.3) Pub Date : 2022-10-29 Shengyan Wang, Jie Ma, Huiping Qiu, Shizhen Liu, Shouli Zhang, Huihui Liu, Peili Zhang, Ri-li Ge, Guojie Li, Sen Cui
High-altitude polycythemia (HAPC) is a chronic mountain sickness characterized by multiple severe ill-effects. Its pathogenesis is still unclear, and till date, no study has been conducted to investigate the plasma exome profile of Tibetan patients with HAPC. In this study, we aimed to elucidate the pathogenesis of HAPC by determining the microRNA (miRNA) signatures. We compared the plasma exosome
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Molecular mechanisms underlying the role of HLA-DQ in systemic immune activation in severe aplastic anemia Blood Cell Mol. Dis. (IF 2.3) Pub Date : 2022-10-29 Yuanyuan Shao, Bingnan Liu, Li He, Chunyan Liu, Rong Fu
Severe aplastic anemia (SAA) is a bone marrow failure disorder caused by autoimmune dysfunction. The presentation by dendritic cells (DCs) is the key step in initiating the immune response against unknown antigens in SAA patients. In the previous phase, we found that compared to healthy controls, patients with SAA had an increased proportion of circulating myeloid/conventional dendritic cells (mDCs/cDCs)