MicroRNA expression patterns in HbE/ β-thalassemia patients: The passwords to unlock fetal hemoglobin expression in β-hemoglobinopathies.
This study hypothesized that the high HbF levels in HbE/β-thalassemia individuals may be guided by microRNAs and explored their involvement in the disease pathophysiology. The miRNA expression profile of hematopoietic progenitor cells in HbE/β-thalassemia patients was investigated and compared with that of healthy controls. Using miRNA PCR array experiments, eight miRNAs (hsa-miR-146a-5p, hsa-miR-146b-5p, hsa-miR-148b-3p, hsa-miR-155-5p, hsa-miR-192-5p, hsa-miR-335-5p, hsa-miR-7-5p, hsa-miR-98-5p) were identified to be significantly up-regulated whereas four miRNAs (hsa-let-7a-5p, hsa-miR-320a, hsa-let-7b-5p, hsa...
Source: Blood Cells, Molecules and Diseases - November 19, 2020 Category: Hematology Authors: Das SS, Das S, Byram PK, Rahaman M, Dolai TK, Chatterjee A, Chakravorty N Tags: Blood Cells Mol Dis Source Type: research

Modulation of red blood cell oxygen affinity with a novel allosteric modifier of hemoglobin is additive to the Bohr effect.
Abstract PURPOSE: The Bohr effect describes hemoglobin's affinity for oxygen dependent on solution pH. Within pH range 6.0-8.5, hemoglobin's oxygen affinity decreases with decreasing pH. This results in increased oxygen delivery to metabolically active, acidic tissues and improved oxygen uptake in basic regions including lung tissue. Myo-Inositol tripyrophosphate (ITPP) translocates the erythrocyte membrane and allosterically modifies hemoglobin (Hb). We tested the hypothesis that ITPP does not abrogate the Bohr effect. METHODS: Experiments were conducted to determine the effect of increasing concentrations o...
Source: Blood Cells, Molecules and Diseases - November 19, 2020 Category: Hematology Authors: Evans BA, Ansari AK, Kamyszek RW, Salvagno M, Welsby J, Fuller M, Welsby I Tags: Blood Cells Mol Dis Source Type: research

Pediatric bone marrow failure: Clinical, hematological and targeted next generation sequencing data.
In this study, clinico-hematological, genetic and outcome profile of children with BMF was evaluated to delineate the underlying genotype and phenotype. DESIGN: Cases were evaluated as two groups: Group 1 (n = 56; DBA-23, FA-18, DC-2, UBMFS-13) included children with suspected IBMFS based on clinical phenotype and accessible lab investigations and Group 2 (n = 53) included children with IAA treated with IST. Targeted NGS was carried out in a subset of these children (n = 42) and supplemented with WES wherever required. RESULTS: We identified causative mutation in overall 15 of 27 tes...
Source: Blood Cells, Molecules and Diseases - November 5, 2020 Category: Hematology Authors: Chhabra P, Bhatia P, Singh M, Bansal D, Jain R, Varma N, Trehan A Tags: Blood Cells Mol Dis Source Type: research

Benserazide as a potential novel fetal hemoglobin inducer: an observational study in non-carriers of hemoglobin disorders.
Abstract Induction of fetal hemoglobin production with hydroxyurea is an effective strategy in sickle cell disease and beta thalassemias, but up to 20% of patients do not respond to or cannot tolerate it. Benserazide is used in the treatment of Parkinson's disease and was noticed to induce gamma globin in preclinical models. We hypothesized that chronic treatment with benserazide-containing medication may be associated with increase in HbF production and in circulating F-cells. Blood samples were collected from 50 subjects including 35 patients on benserazide for Parkinson's disease, 10 healthy controls, and 5 pat...
Source: Blood Cells, Molecules and Diseases - November 5, 2020 Category: Hematology Authors: Santos MEHP, Olops L, Vendrame F, Tavares AHJ, Leonardo DP, de Azevedo PC, Piovesana LG, Costa FF, Fertrin KY Tags: Blood Cells Mol Dis Source Type: research

Unusual red blood cell inclusions in an intravenous drug abuse patient.
PMID: 33092980 [PubMed - as supplied by publisher] (Source: Blood Cells, Molecules and Diseases)
Source: Blood Cells, Molecules and Diseases - October 9, 2020 Category: Hematology Authors: Balakrishna JP, Kahwash SB Tags: Blood Cells Mol Dis Source Type: research

Evidence for complement-mediated bone marrow necrosis in a young adult with sickle cell disease.
PMID: 33096468 [PubMed - as supplied by publisher] (Source: Blood Cells, Molecules and Diseases)
Source: Blood Cells, Molecules and Diseases - October 9, 2020 Category: Hematology Authors: Azul M, Shah S, Williams S, Vercellotti GM, Boucher AA Tags: Blood Cells Mol Dis Source Type: research

Increased proportion and altered properties of intermediate monocytes in the peripheral blood of patients with lower risk Myelodysplastic Syndrome.
Abstract Immune deregulation has a critical role in the pathogenesis of lower risk myelodysplastic syndromes (MDS). The cells of the macrophage/monocyte lineage have been reported to contribute to the inflammatory process in MDS through impaired phagocytosis of the apoptotic hemopoietic cells and abnormal production of cytokines. In the present study we assessed the number of peripheral blood (PB) monocyte subsets, namely the classical CD14bright/CD16-, intermediate CD14bright/CD16+ and non-classical CD14dim/CD16+ cells, in patients with lower risk (low/intermediate-I) MDS (n = 32). We also assessed the ...
Source: Blood Cells, Molecules and Diseases - September 28, 2020 Category: Hematology Authors: Velegraki M, Papakonstantinou N, Kalaitzaki L, Ntoufa S, Laidou S, Tsagiopoulou M, Bizymi N, Damianaki A, Mavroudi I, Pontikoglou C, Papadaki HA Tags: Blood Cells Mol Dis Source Type: research

A decade of changes in management of immune thrombocytopenia, with special focus on elderly patients.
CONCLUSION: These results confirm (1) that there is a preferential use of TPO-RAs in elderly ITP patients with fewer bleeding complications but more unfavorable prothrombotic conditions than in younger individuals, and (2) that early use of these agents has been established as an effective therapeutic alternative to other second line therapies. PMID: 32979651 [PubMed - as supplied by publisher] (Source: Blood Cells, Molecules and Diseases)
Source: Blood Cells, Molecules and Diseases - September 19, 2020 Category: Hematology Authors: Lozano ML, Mingot-Castellano ME, Perera MM, Jarque I, Campos-Alvarez RM, González-López TJ, Carreño-Tarragona G, Bermejo N, Lopez-Fernandez MF, de Andrés A, Valcarcel D, Casado-Montero LF, Alvarez-Roman MT, Orts MI, Novelli S, González-Porras JR, Bol Tags: Blood Cells Mol Dis Source Type: research

Potential causal role of l-glutamine in sickle cell disease painful crises: A Mendelian randomization analysis.
tre G Abstract In a recent clinical trial, the metabolite l-glutamine was shown to reduce painful crises in sickle cell disease (SCD) patients. To support this observation and identify other metabolites implicated in SCD clinical heterogeneity, we profiled 129 metabolites in the plasma of 705 SCD patients. We tested correlations between metabolite levels and six SCD-related complications (painful crises, cholecystectomy, retinopathy, leg ulcer, priapism, aseptic necrosis) or estimated glomerular filtration rate (eGFR), and used Mendelian randomization (MR) to assess causality. We found a potential causal relations...
Source: Blood Cells, Molecules and Diseases - September 9, 2020 Category: Hematology Authors: Iboudo Y, Garrett ME, Bartolucci P, Brugnara C, Clish CB, Hirschhorn JN, Galactéros F, Ashley-Koch AE, Telen MJ, Lettre G Tags: Blood Cells Mol Dis Source Type: research

Heptamer-type small guide RNA that can shift macrophages toward the M1 state.
Abstract Multiple myeloma is a refractory cancer of plasma cells. Although treatment strategies for multiple myeloma are getting improved year by year, in most cases patients relapse due to the emergence of drug-resistant mutations in the myeloma cells. The interplay between myeloma cells and tumor-associated macrophages (TAM) is important for the pathology. We thought that some heptamer-type sgRNAs for TRUE gene silencing would be able to transform TAM toward the M1 state and might become therapeutic drugs for myeloma. Here, we searched for heptamer-type sgRNAs that can shift macrophages toward the M1 state. We s...
Source: Blood Cells, Molecules and Diseases - September 6, 2020 Category: Hematology Authors: Ishikawa T, Haino A, Ichiyanagi T, Takahashi M, Seki M, Nashimoto M Tags: Blood Cells Mol Dis Source Type: research

Sickle cell disease mice have cerebral oxidative stress and vascular and white matter abnormalities.
Abstract Strokes are feared complications of sickle cell disease (SCD) and yield significant neurologic and neurocognitive deficits. However, even without detectable strokes, SCD patients have significant neurocognitive deficits in domains of learning and memory, processing speed and executive function. In these cases, mechanisms unrelated to major cerebrovascular abnormalities likely underlie these deficits. While oxidative stress and stress-related signaling pathways play a role in SCD pathophysiology, their role in cerebral injury remains unknown. We have shown that Townes and BERK SCD mice, while not having st...
Source: Blood Cells, Molecules and Diseases - September 3, 2020 Category: Hematology Authors: Khaibullina A, Almeida LEF, Kamimura S, Zerfas PM, Smith ML, Vogel S, Wakim P, Vasconcelos OM, Quezado MM, Horkayne-Szakaly I, Quezado ZMN Tags: Blood Cells Mol Dis Source Type: research

CD133+CD34+ cells can give rise to EPCs: A comparative rabbit and human study.
PMID: 32920463 [PubMed - as supplied by publisher] (Source: Blood Cells, Molecules and Diseases)
Source: Blood Cells, Molecules and Diseases - August 31, 2020 Category: Hematology Authors: Chopra H, Han Y, Zhang C, Pow EHN Tags: Blood Cells Mol Dis Source Type: research

Numbers of long-term hematopoietic stem cells from bone marrow of fanca and fancc knockout mice can be greatly enhanced by their collection and processing in physioxia conditions.
We reported increased collection of HSCs from mouse bone marrow and mobilized peripheral blood, and human cord blood of normal donors after collection/processing in low (3%) oxygen (physioxia). We assessed comparative contents of long-term (LT)-HSCs from BM of fanca-/- and fancc-/- when collected/processed at 3% O2, in order to negate effects of extra physiological shock stress (EPHOSS) induced by collection/processing in ambient air. Collection/processing of BM from fanca-/- and fancc-/- mice in physioxia demonstrated a ≥3-fold increase in LT-HSCs compared to that in ambient air. This was associated with decreased phen...
Source: Blood Cells, Molecules and Diseases - August 27, 2020 Category: Hematology Authors: Broxmeyer HE, Capitano ML, Cooper S, Potchanant ES, Clapp DW Tags: Blood Cells Mol Dis Source Type: research

RNF220 promotes the proliferation of leukaemic cells and reduces the degradation of the Cyclin D1 protein through USP22.
Abstract Ring finger proteins contain a characteristic ring finger motif and perform a wide range of biological functions in living organisms. These genes are abnormally expressed in many cancers. We found that the expression level of Ring finger protein 220 (RNF220) was negatively correlated with the disease-free survival (DFS) and overall survival (OS) of acute myeloid leukaemia (AML) patients. Moreover, the mRNA level of this gene is significantly higher in the bone marrow cells of AML patients than in the mobilized peripheral blood haematopoietic stem cells of healthy donors. The overexpression of RNF220 promo...
Source: Blood Cells, Molecules and Diseases - August 24, 2020 Category: Hematology Authors: Pan Y, An N, Deng X, Zhang Q, Du X Tags: Blood Cells Mol Dis Source Type: research

Identification and characterization of novel mutations in Chinese patients with congenital fibrinogen disorders.
CONCLUSION: This study in a relatively large cohort of Chinese patients with congenital fibrinogen disorders enabled the identification of five new fibrinogen missense mutations. In silico modeling may represent a valuable tool for understanding amino acid residues from novel variants leading to congenital fibrinogen disorders, but it should be followed by functional studies. Clinical presentation of fibrinogen disorders was variable, possibly due to genetic and environmental modifiers. PMID: 32877852 [PubMed - as supplied by publisher] (Source: Blood Cells, Molecules and Diseases)
Source: Blood Cells, Molecules and Diseases - August 22, 2020 Category: Hematology Authors: Zhou P, Yu M, Peng Y, Ma P, Wan L Tags: Blood Cells Mol Dis Source Type: research

Human cord blood hematopoietic cells acquire neural features when cultured in the presence of neurogenic cytokines.
ute;n P, Mayani H Abstract In vitro growth of hematopoietic cells depends on the presence of hematopoietic cytokines. To date, it is unclear if these cells would be able to respond to non-hematopoietic cytokines. In the present study, we have explored this by culturing human hematopoietic cells in presence of neurogenic cytokines. Lineage-negative (Lin-) umbilical cord blood (UCB)-derived cells -enriched for hematopoietic stem and progenitor cells- were cultured in presence of different combinations of hematopoietic cytokines, neurotrophins, epidermal growth factor, fibroblast growth factor, and neurogenic culture...
Source: Blood Cells, Molecules and Diseases - August 14, 2020 Category: Hematology Authors: Mondragón-García I, Flores-Guzmán P, Mayani H Tags: Blood Cells Mol Dis Source Type: research

Age-dependent characterization of carotid and cerebral artery geometries in a transgenic mouse model of sickle cell anemia using ultrasound and microcomputed tomography.
Abstract To define morphological changes in carotid and cerebral arteries in sickle cell transgenic mice (SS) as they age, a combination of ultrasound and microcomputed tomography of plastinated arteries was used to quantify arterial dimensions and changes in mice 4, 12, and 24 weeks of age. 12-week SS mice had significantly larger common carotid artery diameters than AS mice, which continued through to the extracranial and intracranial portions of the internal carotid artery (ICA). There were also side specific differences in diameters between the left and right vessels. Significant ICA tapering along its le...
Source: Blood Cells, Molecules and Diseases - August 12, 2020 Category: Hematology Authors: Rivera CP, Li L, Cai S, Pei N, McAlear GE, Bollavaram K, Ariyo OV, Omojola VO, Song H, Alfonso AL, Tan W, Huo Y, Platt MO Tags: Blood Cells Mol Dis Source Type: research

No evidence that chloroquine or hydroxychloroquine induce hemolysis in G6PD deficiency.
PMID: 32836191 [PubMed - as supplied by publisher] (Source: Blood Cells, Molecules and Diseases)
Source: Blood Cells, Molecules and Diseases - August 6, 2020 Category: Hematology Authors: Schilling WHK, Bancone G, White NJ Tags: Blood Cells Mol Dis Source Type: research

Differential tissue specific expression of Kif23 alternative transcripts in mice with the human mutation causing congenital dyserythropoietic anemia type III.
In this study, we quantified expression of alternative Kif23 transcripts in a mouse model with human KIF23 mutation and investigated its association with a regulator of alternative splicing, serine/arginine-rich splicing factor 3 (Srsf3). We confirmed presence of an additional exon 8 in both human and mouse KIF23 transcripts. A transcript lacking exons 17 and 18 was ubiquitously expressed in mice while other isoforms were common in human tissues however in bone marrow of knock-in mice a transcript without exon 18 was prevalent as it was in bone marrow of a CDA III patient. We conclude that the possibility that the tissue s...
Source: Blood Cells, Molecules and Diseases - July 30, 2020 Category: Hematology Authors: Vikberg AL, Malla S, Golovleva I Tags: Blood Cells Mol Dis Source Type: research

Corrigendum to "Sickle cell disease clinical phenotypes in Nigeria: A preliminary analysis of the Sickle Pan Africa Research Consortium Nigeria database" [Blood Cells, Molecules and Diseases (2020) Start page-End page/202438].
Corrigendum to "Sickle cell disease clinical phenotypes in Nigeria: A preliminary analysis of the Sickle Pan Africa Research Consortium Nigeria database" [Blood Cells, Molecules and Diseases (2020) Start page-End page/202438]. Blood Cells Mol Dis. 2020 Jul 29;:102480 Authors: Isa H, Adegoke S, Madu A, Hassan AA, Ohiaeri C, Chianumba R, Brown B, Okocha E, Ugwu N, Diaku-Akinwumi I, Adeyemo T, Kuliya-Gwarzo A, Dogara L, Lawal H, Tanko Y, Ladu A, Kangiwa U, Ekwem L, Oniyangi S, Wakama T, Umoru D, Olanrewaju O, Akinola N, Nnebe-Agumadu U, Asala S, Adekile A, Olaniyi J, Sangeda R, Sickle Africa Data Coordi...
Source: Blood Cells, Molecules and Diseases - July 28, 2020 Category: Hematology Authors: Isa H, Adegoke S, Madu A, Hassan AA, Ohiaeri C, Chianumba R, Brown B, Okocha E, Ugwu N, Diaku-Akinwumi I, Adeyemo T, Kuliya-Gwarzo A, Dogara L, Lawal H, Tanko Y, Ladu A, Kangiwa U, Ekwem L, Oniyangi S, Wakama T, Umoru D, Olanrewaju O, Akinola N, Nnebe-Agu Tags: Blood Cells Mol Dis Source Type: research

Novel mutations in the EPO-R, VHL and EPAS1 genes in the Congenital Erythrocytosis patients.
In this study the mutations in EPO-R and EPAS1 genes were identified for the first time in India. PMID: 32739800 [PubMed - as supplied by publisher] (Source: Blood Cells, Molecules and Diseases)
Source: Blood Cells, Molecules and Diseases - July 22, 2020 Category: Hematology Authors: Chandrasekhar C, Pasupuleti SK, Sarma PVGK Tags: Blood Cells Mol Dis Source Type: research

p19INK4d inhibits proliferation and enhances imatinib efficacy through BCR-ABL signaling pathway in chronic myeloid leukemia.
Abstract Chronic myeloid leukemia (CML) is a kind of myeloproliferative disorder caused by a constitutively active BCR-ABL tyrosine kinase. Tyrosine kinase inhibitors (TKIs), imatinib and its derivatives, have achieved great progress in the treatment of CML. However, many CML patients do not respond to TKIs alone. p19INK4d, a cyclin-dependent kinase inhibitor, plays important roles in proliferation, DNA damage repair, apoptosis and cell differentiation, but its role in CML is unknown. Herein, we found that the expression of p19INK4d in CML patients was significantly lower than that in healthy controls. p19INK4d ov...
Source: Blood Cells, Molecules and Diseases - July 13, 2020 Category: Hematology Authors: Kuang Y, Han X, Cao P, Xiong D, Peng Y, Liu Z, Xu Z, Liang L, Roy M, Liu J, Nie L, Zhang J Tags: Blood Cells Mol Dis Source Type: research

Direct and indirect effects of the SARS-CoV-2 pandemic on Gaucher Disease patients in Spain: Time to reconsider home-based therapies?
CONCLUSIONS: One quarter of the patients treated at hospitals reported dose interruptions. Home-based therapy may need to be considered in order to minimize the impact of the COVID-19 pandemic. PMID: 32688219 [PubMed - as supplied by publisher] (Source: Blood Cells, Molecules and Diseases)
Source: Blood Cells, Molecules and Diseases - July 13, 2020 Category: Hematology Authors: Andrade-Campos M, Escuder-Azuara B, de Frutos LL, Serrano-Gonzalo I, Giraldo P, GEEDL, FEETEG, AEEFEG Tags: Blood Cells Mol Dis Source Type: research

First report of successful management of acute promyelocytic leukemia in a pregnant female with All-Trans-Retinoic Acid and Arsenic Trioxide-based induction regimen.
PMID: 32688220 [PubMed - as supplied by publisher] (Source: Blood Cells, Molecules and Diseases)
Source: Blood Cells, Molecules and Diseases - July 13, 2020 Category: Hematology Authors: Khosla H, Jain A, Tatawadiya S, Prasad P, Nagpal K, Chaudhry S, Sharma M, Gupta DK, Saluja S, Jain A Tags: Blood Cells Mol Dis Source Type: research

Daratumumab for pure red cell aplasia post ABO incompatible allogeneic hematopoietic stem cell transplant for aplastic anemia.
In this report we present our experience of successfully managing a patient of post-transplant PRCA with daratumumab. Our patient had failed multiple lines of therapy prior to receiving daratumumab. Response was seen after the 3rd weekly dose of daratumumab. PMID: 32653327 [PubMed - as supplied by publisher] (Source: Blood Cells, Molecules and Diseases)
Source: Blood Cells, Molecules and Diseases - July 1, 2020 Category: Hematology Authors: Jeyaraman P, Borah P, Rajput P, Dayal N, Pathak S, Naithani R Tags: Blood Cells Mol Dis Source Type: research

Increased frequency of GNPAT p.D519G in compound HFE p.C282Y/p.H63D heterozygotes with elevated serum ferritin levels.
Abstract Glyceronephosphate O-acyltransferase (GNPAT) p.D519G (rs11558492) was identified as a genetic modifier correlated with more severe iron overload in hemochromatosis through whole-exome sequencing of HFE p.C282Y homozygotes with extreme iron phenotypes. We studied the prevalence of p.D519G in HFE p.C282Y/p.H63D compound heterozygotes, a genotype associated with iron overload in some patients. Cases were Australian participants with elevated serum ferritin (SF) levels ≥300μg/L (males) and ≥200μg/L (females); subjects whose SF levels were below these cut-offs were designated as controls. Samples w...
Source: Blood Cells, Molecules and Diseases - June 30, 2020 Category: Hematology Authors: Secondes ES, Wallace DF, Rishi G, McLaren GD, McLaren CE, Chen WP, Ramm LE, Powell LW, Ramm GA, Barton JC, Subramaniam VN Tags: Blood Cells Mol Dis Source Type: research

Chromosome 6p SNP microhaplotypes and IgG3 levels in hemochromatosis probands with HFE p.C282Y homozygosity.
rto G Abstract Subnormal IgG1 or IgG3 levels occurred in 30% of hemochromatosis probands with HFE p.C282Y homozygosity and were concordant in HLA-identical siblings. We sought to identify factors associated with IgG subclasses in Alabama probands with p.C282Y homozygosity evaluated for 500 kb microhaplotypes AAT and GGG defined by SNPs in chromosome 6p genes PGBD1, ZNF193, and ZNF165. In regressions on IgG subclasses, we used: age; sex; GGG (dichotomous); iron removed to achieve depletion; CD8+ T-lymphocytes; and other IgG subclasses. Among 49 probands, AAT and GGG occurred in 95.9% and 16.3%, respectively. Thir...
Source: Blood Cells, Molecules and Diseases - June 26, 2020 Category: Hematology Authors: Barton JC, Barton JC, Cruz E, Teles MJ, Guimarães JT, Porto G Tags: Blood Cells Mol Dis Source Type: research

Dizygotic twins with prolonged jaundice and microcytic, hypochromic, hemolytic anemia with pyropoikilocytosis.
Abstract Dizygotic twin males, born at 34 weeks gestation, had prolonged jaundice, microcytic, hypochromic anemia, FABarts hemoglobin, elevated end-tidal CO, and blood films consistent with hereditary pyropoikilocytosis. DNA sequencing revealed both had a heterozygous alpha spectrin (SPTA1) mutation (c.460_462dup) inherited from their asymptomatic mother, plus a 3-base pair duplication in alpha globin (HBA2) (c.364_366dupGTG) inherited from their asymptomatic father. PMID: 32623341 [PubMed - as supplied by publisher] (Source: Blood Cells, Molecules and Diseases)
Source: Blood Cells, Molecules and Diseases - June 24, 2020 Category: Hematology Authors: Bahr TM, Lozano-Chinga M, Agarwal AM, Meznarich JA, Gerday E, Smoot JL, Taylor A, Christensen RD Tags: Blood Cells Mol Dis Source Type: research

Hypoxia induced up-regulation of tissue factor is mediated through extracellular RNA activated Toll-like receptor 3-activated protein 1 signalling.
Abstract Sterile Inflammation (SI), a condition where damage associated molecular patterns (DAMPs) released from dying cells, leads to TLR (Toll-like receptor) activation and triggers hypoxemia in circulation leading to venous thrombosis (VT) through tissue factor (TF) activation, but its importance under acute hypoxia (AH) remains unexplored. Thus, we hypothesized that eRNA released from dying cells under AH activates TF via the TLR3-ERK1/2-AP1 pathway, leading to VT. Animals were exposed to stimulate hypoxia for 0-24 h at standard temperature and humidity. RNaseA and DNase1 were injected immediately before ...
Source: Blood Cells, Molecules and Diseases - June 10, 2020 Category: Hematology Authors: Bhagat S, Biswas I, Ahmed R, Khan GA Tags: Blood Cells Mol Dis Source Type: research

Comparative analysis of lentiviral gene transfer approaches designed to promote fetal hemoglobin production for the treatment of β-hemoglobinopathies.
Comparative analysis of lentiviral gene transfer approaches designed to promote fetal hemoglobin production for the treatment of β-hemoglobinopathies. Blood Cells Mol Dis. 2020 May 29;84:102456 Authors: Daniel-Moreno A, Lamsfus-Calle A, Wilber A, Chambers CB, Johnston I, Antony JS, Epting T, Handgretinger R, Mezger M Abstract β-Hemoglobinopathies are among the most common single-gene disorders and are caused by different mutations in the β-globin gene. Recent curative therapeutic approaches for these disorders utilize lentiviral vectors (LVs) to introduce a functional copy of the β...
Source: Blood Cells, Molecules and Diseases - May 28, 2020 Category: Hematology Authors: Daniel-Moreno A, Lamsfus-Calle A, Wilber A, Chambers CB, Johnston I, Antony JS, Epting T, Handgretinger R, Mezger M Tags: Blood Cells Mol Dis Source Type: research

Autoimmune pancytopenia following chronic immune thrombocytopenia: Case report and literature review.
ini M PMID: 32502698 [PubMed - as supplied by publisher] (Source: Blood Cells, Molecules and Diseases)
Source: Blood Cells, Molecules and Diseases - May 28, 2020 Category: Hematology Authors: Gardellini A, Guidotti F, Zancanella M, Saccà V, Feltri M, Ambrosiani L, Turrini M Tags: Blood Cells Mol Dis Source Type: research

Biomedical article authorship: A proposal to enhance the meaningful assignment of authorship.
Abstract The authorship of articles in biomedical journals has proliferated despite efforts of publishers and editors to require justification of authorship. A proposal is made, herein, to resolve that matter by applying the "one paper: one citation" concept, so as to adhere to the thermodynamic principle of conservation of mass. This proposal provides (i) a means to allow authors to agree on their relative contribution, (ii) an incentive to assign only significant contributors to authorship, and (iii) the appropriate fractional contribution of each author when there are multiple authors. As a result, th...
Source: Blood Cells, Molecules and Diseases - May 22, 2020 Category: Hematology Authors: Lichtman MA Tags: Blood Cells Mol Dis Source Type: research

EPAS1 regulates proliferation of erythroblasts in chronic mountain sickness.
This study was intended to investigate the role of EPAS1 in the proliferation of erythroblasts in CMS. Changes of HIF-1α and EPAS1/HIF-2α in the bone marrow erythroblasts of 21 patients with CMS and 14 control subjects residing at the same altitudes were determined by RT-qPCR and western blotting. We also developed a lentiviral vector, Lv-EPAS1/sh-EPAS1, to over-express/silence EPAS1 in K562 cells. Cells cycle and proliferation were detected by flow cytometry. Transcriptome analyses were carried out on Illumina. CMS patients showed a higher expression of EPAS1/HIF-2α in the bone marrow erythroblasts than ...
Source: Blood Cells, Molecules and Diseases - May 18, 2020 Category: Hematology Authors: Liu H, Tang F, Su J, Ma J, Qin Y, Ji L, Geng H, Wang S, Zhang P, Liu J, Cui S, Ge RL, Li Z Tags: Blood Cells Mol Dis Source Type: research

Novel mutations in the bone morphogenetic protein 6 gene in patients with iron overload and non-homozygous genotype for the HFE p.Cys282Tyr mutation.
CONCLUSION: Identification of the BMP6 pathogenic variants in Brazilian patients with primary IO might contribute to the genetic understanding of this phenotype. PMID: 32464486 [PubMed - as supplied by publisher] (Source: Blood Cells, Molecules and Diseases)
Source: Blood Cells, Molecules and Diseases - May 17, 2020 Category: Hematology Authors: Alvarenga AM, da Silva NK, Fonseca PFS, Oliveira TGM, da Silva Monteiro JB, Cançado RD, Naoum FA, Dinardo CL, Brissot P, Santos PCJL Tags: Blood Cells Mol Dis Source Type: research

The IL-33 Receptor/ST2 acts as a positive regulator of functional mouse bone marrow hematopoietic stem and progenitor cells.
Abstract There is a paucity of information on a potential role for the IL-33 receptor/ST2 in the regulation of mouse bone marrow (BM) hematopoietic stem (HSC) and progenitor (HPC) cells. Comparing the BM of st2-/- and wild type (WT) control mice using functional assays, it was found that st2-/- BM cells had poorer engrafting capacity than WT BM in a competitive repopulating assay using congenic mice, with no changes in reconstitution of B-, T- and myeloid cells following transplantation. The BM of st2-/- mice also had fewer granulocyte-macrophage, erythroid, and multipotential progenitors than that of WT BM and th...
Source: Blood Cells, Molecules and Diseases - May 4, 2020 Category: Hematology Authors: Capitano ML, Griesenauer B, Guo B, Cooper S, Paczesny S, Broxmeyer HE Tags: Blood Cells Mol Dis Source Type: research

The association of HBG2, BCL11A, and HBS1L-MYB polymorphisms to thalidomide response in Chinese β-thalassemia patients.
The association of HBG2, BCL11A, and HBS1L-MYB polymorphisms to thalidomide response in Chinese β-thalassemia patients. Blood Cells Mol Dis. 2020 Apr 26;84:102442 Authors: Yang K, Wu Y, Ma Y, Xiao J, Zhou Y, Yin X Abstract Thalidomide has been shown to reactivate fetal hemoglobin (HbF) production and reduce the need for blood transfusions in β-thalassemia patients. However, some patients show a minor response or no response to thalidomide. In view of its potential side effects, targeted prescription of thalidomide is imperative. We initially aimed to explore the relevance of HBG2 (rs7482144)...
Source: Blood Cells, Molecules and Diseases - April 25, 2020 Category: Hematology Authors: Yang K, Wu Y, Ma Y, Xiao J, Zhou Y, Yin X Tags: Blood Cells Mol Dis Source Type: research

Differential response to FEIBA is strongly associated with the prothrombotic microparticles.
DISCUSSION: Patients with excellent response showed statistically significant increase in %MP of PS-MPs (p 
Source: Blood Cells, Molecules and Diseases - April 25, 2020 Category: Hematology Authors: Soni P, Shanmukhaiah C, Patil R, Shetty S Tags: Blood Cells Mol Dis Source Type: research

Consequences of parenteral iron-dextran loading investigated in minipigs. A new model of transfusional iron overload.
Abstract Patients with blood transfusion-dependent anemias develop transfusional iron overload (TIO), which may cause cardiosiderosis. In patients with an ineffective erythropoiesis, such as thalassemia major, common transfusion regimes aim at suppression of erythropoiesis and of enteral iron loading. Recent data suggest that maintaining residual, ineffective erythropoiesis may protect from cardiosiderosis. We investigated the common consequences of TIO, including cardiosiderosis, in a minipig model of iron overload with normal erythropoiesis. TIO was mimicked by long-term, weekly iron-dextran injections. Iron-dex...
Source: Blood Cells, Molecules and Diseases - April 18, 2020 Category: Hematology Authors: Jensen PD, Nielsen AH, Simonsen CW, Baandrup UT, Vyberg M, Jensen SE, Magnusdottir SO, Krarup HB, Nielsen MF, Kjaergaard B Tags: Blood Cells Mol Dis Source Type: research

Increased expression of CD8 marker on T-cells in COVID-19 patients.
Abstract BACKGROUND: Cell-mediated immunity including T-cells (T helper and cytotoxic) plays an essential role in efficient antiviral responses against coronavirus disease-2019 (COVID-19). Therefore, in this study, we evaluated the ratio and expression of CD4 and CD8 markers in COVID-19 patients to clarify the immune characterizations of CD4 and CD8 T-cells in COVID-19 patients. METHODS: Peripheral blood samples of 25 COVID-19 patients and 25 normal individuals with similar age and sex as the control group were collected. White blood cells, platelets, and lymphocytes were counted and CD4 and CD8 T lymphocytes...
Source: Blood Cells, Molecules and Diseases - April 12, 2020 Category: Hematology Authors: Ganji A, Farahani I, Khansarinejad B, Ghazavi A, Mosayebi G Tags: Blood Cells Mol Dis Source Type: research

KLF1/EKLF expression in acute leukemia is correlated with chromosomal abnormalities.
Abstract KLF1 (EKLF) is a master regulator of erythropoiesis and controls expression of a wide array of target genes. We interrogated human tissue microarray samples via immunohistological analysis to address whether levels of KLF1 protein are associated with leukemia. We have made the unexpected findings that higher KLF1 levels are correlated with cells containing abnormal chromosomes, and that high KLF1 expression is not limited to acute myeloid leukemia (AML) associated with erythroid/megakaryoblastic differentiation. Expression of KLF1 is associated with poor survival. Further analyses reveal that KLF1 directl...
Source: Blood Cells, Molecules and Diseases - April 12, 2020 Category: Hematology Authors: Mansoor A, Mansoor MO, Patel JL, Zhao S, Natkunam Y, Bieker JJ Tags: Blood Cells Mol Dis Source Type: research

The effect of transfusion on immune responses in thalassemia.
Abstract BACKGROUND: Regular transfusions are the gold standard therapy for β-thalassemia and are often complicated by secondary-iron overload and alloimmunization. We assessed the frequency of regulatory T cells (Tregs) and the levels of cytokines implicated in Th-responses in 49 patients 33 TDT and 16 NTDT in order to investigate the contribution of transfusion and its complications on immune responses. MATERIALS AND METHODS: Tregs were characterized with flow cytometry. Soluble IL-4, IL-6, IL-10, IL-17A, and TGF-β1 were assessed by ELISA. Clinical data including alloimmunization, age of onset of ...
Source: Blood Cells, Molecules and Diseases - March 30, 2020 Category: Hematology Authors: Politou M, Komninaka V, Valsami S, Kapsimali V, Pouliakis A, Koutsouri T, Panayiotakopoulos G, Kotsianidis I, Voskaridou E Tags: Blood Cells Mol Dis Source Type: research

Lysophosphatidic acid-induced pro-thrombotic phosphatidylserine exposure and ionophore-induced microvesiculation is mediated by the scramblase TMEM16F in erythrocytes.
We report that TMEM16F inhibitors tannic acid (TA) and epigallocatechin-3-gallate (EGCG) inhibit LPA-induced PS exposure and calcium uptake at low micromolar concentrations; fluoxetine, an antidepressant and a known activator of TMEM16F, enhances these processes. These effectors likewise modulate erythrocyte PS exposure and microvesicle shedding induced by calcium ionophore treatment. Further, LPA-treated erythrocytes triggered thrombin generation in platelet-free plasma which was partially impaired in the presence of TA and EGCG. Thus, this study suggests that LPA activates the scramblase TMEM16F in erythrocytes, thereby ...
Source: Blood Cells, Molecules and Diseases - March 16, 2020 Category: Hematology Authors: Öhlinger T, Müllner EW, Fritz M, Sauer T, Werning M, Baron DM, Salzer U Tags: Blood Cells Mol Dis Source Type: research

Sirolimus for treatment of refractory primary warm autoimmune hemolytic anemia in children.
PMID: 32220699 [PubMed - as supplied by publisher] (Source: Blood Cells, Molecules and Diseases)
Source: Blood Cells, Molecules and Diseases - March 15, 2020 Category: Hematology Authors: Williams O, Bhat R, Badawy SM Tags: Blood Cells Mol Dis Source Type: research

Characterisation of a mitochondrial glutamine transporter provides a new opportunity for targeting glutamine metabolism in acute myeloid leukaemia.
PMID: 32197941 [PubMed - as supplied by publisher] (Source: Blood Cells, Molecules and Diseases)
Source: Blood Cells, Molecules and Diseases - March 10, 2020 Category: Hematology Authors: Dernie F Tags: Blood Cells Mol Dis Source Type: research

Targeted gene expression study using TaqMan low density array to gain insights into venous thrombo-embolism (VTE) pathogenesis at high altitude.
Abstract Venous thrombo-embolism (VTE) is multi-factorial disease involving several genetic and acquired risk factors responsible for its onset. It may occur spontaneously upon climbing at High Altitude (HA). Several studies demonstrated that hypoxic conditions prevailing at HA pose an independent risk factor for VTE; however, molecular mechanism remains unknown. Present study aims to identify genes associated with HA-induced VTE pathophysiology using real time TaqMan Low-Density Array (TLDA) of known candidate genes. Gene expression of total 93 genes were studied and analyzed in patients of VTE from HA (HA-VTE) a...
Source: Blood Cells, Molecules and Diseases - March 6, 2020 Category: Hematology Authors: Srivastava S, Kumari B, Garg I, Rai C, Kumar V, Yanamandra U, Singh J, Panjawani U, Bansal A, Kumar B Tags: Blood Cells Mol Dis Source Type: research

PEST domain NOTCH mutations confer a poor relapse free survival in pediatric T-ALL: Data from a tertiary care centre in India.
Abstract A comprehensive genotype-phenotype analysis of pediatric T-ALL data was performed. 33 confirmed pediatric (≤12 y) T-ALL samples were evaluated for oncogenic transcripts: TLX-1, TLX-3, common fusion of STIL-TAL1, NOTCH1 mutations and copy number variations (CNVs). Mean WBC was 235.69 × 103/μL. TLX1 and TLX-3 overexpression detected in 1 (3%) and 7 (21%) patients and STIL-TAL1 in 8 (27%). NOTCH1 mutations were noted in 17 (52%), of which 12 (71%) in HD domain and 6 (35%) in PEST domain (including one case with mutations in all three domains). Commonest CNVs were CDKN2A (85%) and CDKN2B...
Source: Blood Cells, Molecules and Diseases - March 4, 2020 Category: Hematology Authors: Bhatia P, Totadri S, Singh M, Sharma P, Trehan A, Bansal D, Jain R, Varma N, Sachdeva MS, Patra N Tags: Blood Cells Mol Dis Source Type: research

Association of mast cells and bone marrow reticulin fibrosis in patients with bcr-abl negative chronic myeloproliferative neoplasms.
Abstract BACKGROUND: We aimed to investigate the association of bone marrow mast cell numbers (MCN) and the degree of reticulin fibrosis in patients with chronic myeloproliferative neoplasms (MPN). METHODS: This was a case-control study that recruited 47 patients who were diagnosed with bcr-abl negative MPN. Thirty patients with lymphoma served as controls. JAK2 mutation was studied and all subjects underwent bone marrow biopsy at the time of diagnosis. Mast and CD34+ cells were counted. Marrow reticulin fiber was graded. RESULTS: Thirty-four patients had essential thrombocythemia (ET), 8 patients had pr...
Source: Blood Cells, Molecules and Diseases - March 4, 2020 Category: Hematology Authors: Keski H Tags: Blood Cells Mol Dis Source Type: research

Down-regulation of lncRNA NEAT1 regulated by miR-194-5p/DNMT3A facilitates acute myeloid leukemia.
CONCLUSION: Altogether, down-regulation of NEAT1 mediated by miR-194-5p/DNMT3A axis promotes AML progression, which might provide therapeutic targets in AML treatment. PMID: 32179410 [PubMed - as supplied by publisher] (Source: Blood Cells, Molecules and Diseases)
Source: Blood Cells, Molecules and Diseases - February 23, 2020 Category: Hematology Authors: Duan MY, Li M, Tian H, Tang G, Yang YC, Peng NC Tags: Blood Cells Mol Dis Source Type: research

Open-label, expanded access study of taliglucerase alfa in patients with Gaucher disease requiring enzyme replacement therapy.
Abstract A multicenter, open-label, expanded-access study followed the safety of taliglucerase alfa, a plant cell-expressed recombinant enzyme replacement therapy (ERT), in adults with Gaucher disease previously treated with imiglucerase. Patients received taliglucerase alfa every 2 weeks for 9 months at a dose equivalent to their previous imiglucerase dose (Part A); patients were offered treatment for up to 33 months (Part B), and a later amendment allowed treatment-naïve patients. Fifty-eight patients received taliglucerase alfa (55.2% male; mean age, 46.1 years; mean bi-weekly dose, 35....
Source: Blood Cells, Molecules and Diseases - February 23, 2020 Category: Hematology Authors: Kuter DJ, Wajnrajch M, Hernandez B, Wang R, Chertkoff R, Zimran A Tags: Blood Cells Mol Dis Source Type: research

Corrigendum to "Polymorphisms in genes that affect the variation of lipid levels in a Brazilian pediatric population with sickle cell disease: rs662799 APOA5 and rs964184 ZPR1" [Blood Cells Mol. Dis. 80, February 2020, 102376].
Corrigendum to "Polymorphisms in genes that affect the variation of lipid levels in a Brazilian pediatric population with sickle cell disease: rs662799 APOA5 and rs964184 ZPR1" [Blood Cells Mol. Dis. 80, February 2020, 102376]. Blood Cells Mol Dis. 2020 Feb 17;82:102401 Authors: Valente-Frossard TNS, Cruz NRC, Ferreira FO, Belisario AR, Pereira BM, de Freitas Gomides AF, Resende GAD, Carlos AM, Moraes-Souza H, Velloso-Rodrigues C PMID: 32078925 [PubMed - as supplied by publisher] (Source: Blood Cells, Molecules and Diseases)
Source: Blood Cells, Molecules and Diseases - February 16, 2020 Category: Hematology Authors: Valente-Frossard TNS, Cruz NRC, Ferreira FO, Belisario AR, Pereira BM, de Freitas Gomides AF, Resende GAD, Carlos AM, Moraes-Souza H, Velloso-Rodrigues C Tags: Blood Cells Mol Dis Source Type: research