Abstract:
:Hereditary spherocytosis (HS) originates from defective anchoring of the cytoskeletal network to the transmembrane protein complexes of the red blood cell (RBC). Red cells in HS are characterized by membrane instability and reduced deformability and there is marked heterogeneity in disease severity among patients. To unravel this variability in disease severity, we analyzed blood samples from 21 HS patients with defects in ankyrin, band 3, α-spectrin or β-spectrin using red cell indices, eosin-5-maleimide binding, microscopy, the osmotic fragility test, Percoll density gradients, vesiculation and ektacytometry to assess cell membrane stability, cellular density and deformability. Reticulocyte counts, CD71 abundance, band 4.1 a:b ratio, and glycated hemoglobin were used as markers of RBC turnover. We observed that patients with moderate/severe spherocytosis have short-living erythrocytes of low density and abnormally high intercellular heterogeneity. These cells show a prominent decrease in membrane stability and deformability and, as a consequence, are quickly removed from the circulation by the spleen. In contrast, in mild spherocytosis less pronounced reduction in deformability results in prolonged RBC lifespan and, hence, cells are subject to progressive loss of membrane. RBC from patients with mild spherocytosis thus become denser before they are taken up by the spleen. Based on our findings, we conclude that RBC membrane loss, cellular heterogeneity and density are strong markers of clinical severity in spherocytosis.
journal_name
Haematologicajournal_title
Haematologicaauthors
Huisjes R,Makhro A,Llaudet-Planas E,Hertz L,Petkova-Kirova P,Verhagen LP,Pignatelli S,Rab MAE,Schiffelers RM,Seiler E,van Solinge WW,Corrons JV,Kaestner L,Mañú-Pereira M,Bogdanova A,van Wijk Rdoi
10.3324/haematol.2018.188151subject
Has Abstractpub_date
2020-01-31 00:00:00pages
338-347issue
2eissn
0390-6078issn
1592-8721pii
haematol.2018.188151journal_volume
105pub_type
杂志文章相关文献
HAEMATOLOGICA文献大全abstract::Lenalidomide is a very active drug in myelodysplastic syndrome with del (5q). We report such a patient treated with this drug who developed unusual complex cytogenetic abnormalities, which were elucidated by multi-FISH and FISH analysis as jumping translocations involving the long arm of chromosome 5, that resulted in...
journal_title:Haematologica
pub_type: 信件
doi:10.3324/haematol.11917
更新日期:2008-02-01 00:00:00
abstract::Long non-coding ribonucleic acids (RNAs) are a novel class of RNA molecules, which are increasingly recognized as important molecular players in solid and hematologic malignancies. Herein we investigated whether long non-coding RNA expression is associated with clinical and molecular features, as well as outcome of yo...
journal_title:Haematologica
pub_type: 临床试验,杂志文章
doi:10.3324/haematol.2017.166215
更新日期:2017-08-01 00:00:00
abstract::Recent advances in unrelated cord blood transplantation have increased chances and options available in allogeneic stem cell transplantation. The effect of HLA disparity on outcomes after cord blood transplantation was studied recently in mainly pediatric populations. Results showed that HLA matching in combination wi...
journal_title:Haematologica
pub_type: 杂志文章
doi:10.3324/haematol.2012.076042
更新日期:2013-05-01 00:00:00
abstract::Fludarabine-cyclophosphamide-rituximab is the most efficient first-line treatment for chronic lymphocytic leukemia patients. Many dose adjustments of the original MD Anderson Cancer Center regimen have been proposed. However, whether fludarabine-cyclophosphamide-rituximab relative dose intensity may have an impact on ...
journal_title:Haematologica
pub_type: 杂志文章
doi:10.3324/haematol.2012.070755
更新日期:2013-01-01 00:00:00
abstract::The main purpose of this work is to give methodologic details and further verification regarding the predictive system recently elaborated for Hodgkin's disease (HD) patients, by which, under standard accuracy and conventional treatment, patient survival can be directly estimated (within a given confidence interval) w...
journal_title:Haematologica
pub_type: 杂志文章
doi:
更新日期:1989-01-01 00:00:00
abstract::Over the past 20 years we have studied 1781 patients with beta-thalassemia syndromes of which 1481 Yugoslav, 166 Bulgarian, 102 Turkish and 32 Albanian. In this paper we summarize the data on the heterogeneity and molecular basis of beta-thal, delta beta-thal and Lepore hemoglobinopathy in these four nationalities liv...
journal_title:Haematologica
pub_type: 杂志文章
doi:
更新日期:1990-09-01 00:00:00
abstract:BACKGROUND AND OBJECTIVES:Polycythemia vera (PV) is a myeloproliferative disorder, characterized by the expansion of the red cell mass. Our purpose was to evaluate the efficacy of pipobroman (PB) in the long-term control of PV and to assess early and late events. DESIGN AND METHODS:From June 1975 to December 1997, 163...
journal_title:Haematologica
pub_type: 杂志文章
doi:
更新日期:2000-10-01 00:00:00
abstract:BACKGROUND AND OBJECTIVES:Mesenchymal stem cells (MSC) are progenitor cells that are capable of differentiating into mesenchymal tissues. Fetal and adult MSC have similar morphology but differ in proliferative, differentiating and immunosuppressive properties. Further exploring their differences could help in choosing ...
journal_title:Haematologica
pub_type: 杂志文章
doi:
更新日期:2005-08-01 00:00:00
abstract::To evaluate the effects of high-dose dexamethasone (HD-DXM) on the balance of interleukin-18 (IL-18) and its endogenous antagonist IL-18 binding protein (IL-18BP) in ITP patients, IL-18, IL-18BP as well as IFN-gamma, IL-4 plasma levels and platelet counts were determined in 17 ITP patients receiving DXM 40 mg/day for ...
journal_title:Haematologica
pub_type: 杂志文章
doi:10.3324/haematol.2009.007708
更新日期:2009-11-01 00:00:00
abstract:BACKGROUND:In multiple myeloma, expression of cancer testis antigens may provide prognostic markers and potential targets for immunotherapy. Expression at relapse has not yet been evaluated for a large panel of cancer testis antigens which can be classified by varying expression in normal tissue: restricted to testis, ...
journal_title:Haematologica
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.3324/haematol.2010.037978
更新日期:2011-11-01 00:00:00
abstract:BACKGROUND:In normal platelets, insulin inhibits agonist-induced Ca(2+) mobilization by raising cyclic AMP. Platelet from patients with type 2 diabetes are resistant to insulin and show increased Ca(2+) mobilization, aggregation and procoagulant activity. We searched for the cause of this insulin resistance. DESIGN AN...
journal_title:Haematologica
pub_type: 杂志文章
doi:10.3324/haematol.2011.054916
更新日期:2012-08-01 00:00:00
abstract::Hodgkin's lymphoma (HL) simulating acute cholestatic hepatitis is a very unusual clinical picture. Massive liver infiltration with conspicuous acute cholestatic symptoms, in fact, suggests more aggressive systemic diseases such as non Hodgkin's lymphomas or acute leukemias. Nevertheless, we observed two cases of mixed...
journal_title:Haematologica
pub_type: 杂志文章
doi:
更新日期:1989-05-01 00:00:00
abstract:BACKGROUND AND OBJECTIVES:The objective of this study was to evaluate the risk of Gram-negative bacterial infections in febrile neutropenic patients and to develop a specific risk score. DESIGN AND METHODS:This prospective study included 513 consecutive febrile neutropenic, evaluable patients. Forty-five per cent of t...
journal_title:Haematologica
pub_type: 杂志文章
doi:
更新日期:2005-08-01 00:00:00
abstract::β-thalassemia and sickle cell disease are widespread fatal genetic diseases. None of the existing clinical treatments provides a solution for all patients. Two main strategies for treatment are currently being investigated: (i) gene transfer of a normal β-globin gene; (ii) reactivation of the endogenous γ-globin gene....
journal_title:Haematologica
pub_type: 杂志文章
doi:10.3324/haematol.2012.082768
更新日期:2014-01-01 00:00:00
abstract::Hematopoietic differentiation is driven by transcription factors, which orchestrate a finely tuned transcriptional network. At bipotential branching points lineage decisions are made, where key transcription factors initiate cell type-specific gene expression programs. These programs are stabilized by the epigenetic a...
journal_title:Haematologica
pub_type: 杂志文章
doi:10.3324/haematol.2017.174516
更新日期:2018-01-01 00:00:00
abstract:BACKGROUND AND OBJECTIVES:Myeloid leukemia of Down's syndrome (ML-DS) has characteristic biological features (e.g. expression of the truncated GATA1s), which are different from those of non-DS childhood acute myeloid leukemias (AML). The objective of this study was to investigate factors predisposing to the development...
journal_title:Haematologica
pub_type: 杂志文章
doi:
更新日期:2006-11-01 00:00:00
abstract:BACKGROUND:The histone deacetylase inhibitor ITF2357 has potent cytotoxic activity in multiple myeloma in vitro and has entered clinical trials for this disease. DESIGN AND METHODS:In order to gain an overall view of the activity of ITF2357 and identify specific pathways that may be modulated by the drug, we performed...
journal_title:Haematologica
pub_type: 杂志文章
doi:10.3324/haematol.2009.012088
更新日期:2010-02-01 00:00:00
abstract:BACKGROUND AND OBJECTIVES:The degree of globin chain imbalance and tissue hypoxia are important determinants of clinical severity in thalassemia syndromes. Thus phenotypic expression may be modified by interaction of alpha- and beta-thalassemia defects, level and type of hemoglobin synthesized and oxygen release to the...
journal_title:Haematologica
pub_type: 杂志文章
doi:
更新日期:2001-04-01 00:00:00
abstract:BACKGROUND:Human cytomegalovirus infection is the most frequent viral complication in patients undergoing hematopoietic stem cell transplantation. We investigated the development of human cytomegalovirus-specific T cells in adult recipients of hematopoietic stem cell transplants. DESIGN AND METHODS:From May 2003 throu...
journal_title:Haematologica
pub_type: 杂志文章
doi:10.3324/haematol.11912
更新日期:2008-02-01 00:00:00
abstract::Diabetes insipidus and thrombocytosis were presenting symptoms in a case of adult ANLL-M1. Cytogenetic investigations revealed a typical 3q rearrangement, i.e. inv(3)(q21q26). A subclone with monosomy 7 was also found and documented by FISH analysis. Correlations between clinical/hematological features and cytogenetic...
journal_title:Haematologica
pub_type: 杂志文章
doi:
更新日期:1994-07-01 00:00:00
abstract:BACKGROUND AND OBJECTIVES:In March 1987 AIEOP started the AIEOP-ALL-87 study, based on the previous AIEOP-ALL-82. The aim of this new study was to evaluate, for all risk groups: a) the efficacy of treatment intensification achieved by adding a fourth drug (daunomycin) in the induction phase and a 3-drug reinduction pha...
journal_title:Haematologica
pub_type: 临床试验,杂志文章,多中心研究
doi:
更新日期:2001-05-01 00:00:00
abstract::As of 1999, the German registry of immune tolerance treatment in hemophilia has received reports on 146 patients who have undergone this therapy from 25 hemophilia centers. In 16 of the reported patients treatment is ongoing. Therapy has been completed in 126 patients of all groups with hemophilia A; most of them are ...
journal_title:Haematologica
pub_type: 杂志文章
doi:
更新日期:2000-10-01 00:00:00
abstract::The control of mRNA stability plays a central role in orchestrating gene-regulatory networks in hematopoietic cell growth, differentiation and tumorigenesis. HNRNPA0, which encodes an RNA-binding protein shown to regulate transcript stability via binding to the AU-rich elements of mRNAs, is located within the commonly...
journal_title:Haematologica
pub_type: 杂志文章
doi:10.3324/haematol.2013.098657
更新日期:2014-06-01 00:00:00
abstract::Cough mixture abuse has been reported to cause severe folate deficiency and neurological defects. We carried out a prospective case-controlled survey to confirm this association and define the incidence and severity of the problem. A total of 57 cough mixture abusers and 47 other substance abusers (controls) were stud...
journal_title:Haematologica
pub_type: 信件
doi:10.3324/haematol.10859
更新日期:2007-04-01 00:00:00
abstract:BACKGROUND:Antithymocyte globulin or human Jurkat T-cell-line-derived antilymphocyte globulin is used in allogeneic stem cell transplantation to induce in vivo T-cell depletion to facilitate engraftment and lower graft-versus-host disease. In vitro studies suggest that antithymocyte globulin, besides causing T-cell dep...
journal_title:Haematologica
pub_type: 杂志文章
doi:10.3324/haematol.12665
更新日期:2008-09-01 00:00:00
abstract::Previous studies identified the Ser/Thr protein kinase, AKT, as a therapeutic target in thrombo-inflammatory diseases. Here we report that specific inhibition of AKT with ARQ 092, an orally-available AKT inhibitor currently in phase Ib clinical trials as an anti-cancer drug, attenuates the adhesive function of neutrop...
journal_title:Haematologica
pub_type: 杂志文章
doi:10.3324/haematol.2016.151159
更新日期:2017-02-01 00:00:00
abstract::Prostacyclin (PGI2) controls platelet activation and thrombosis through a cyclic adenosine monophosphate (cAMP) signaling cascade. However, in patients with cardiovascular diseases this protective mechanism fails for reasons that are unclear. Using both pharmacological and genetic approaches we describe a mechanism by...
journal_title:Haematologica
pub_type: 杂志文章
doi:10.3324/haematol.2018.213348
更新日期:2020-03-01 00:00:00
abstract:BACKGROUND AND OBJECTIVE:Telomerase is the enzyme that stabilizes and elongates the telomeric ends of chromosomes. It is expressed in germline and malignant cells and absent in most human somatic cells. The selective expression of telomerase has thus been proposed to be a basis for the immortality of germline and malig...
journal_title:Haematologica
pub_type: 杂志文章
doi:
更新日期:1997-05-01 00:00:00
abstract:BACKGROUND AND OBJECTIVES:Autologous stem cell transplantation (ASCT) is currently being evaluated as a therapy for patients with multiple sclerosis (MS). We report the results of a phase II trial to evaluate feasibility and toxicity of CD34+ selected ASCT (CD34+/ASCT) and treatment results at one year of follow-up. D...
journal_title:Haematologica
pub_type: 临床试验,杂志文章
doi:
更新日期:2003-03-01 00:00:00
abstract::Eleven patients with advanced APL were treated with ATO (0.15 mg/Kg daily). Eight (73%) achieved molecular CR, but 5 relapsed, 1 died in molecular CR, 1 was lost to follow-up and 1 is still alive in CR after allogeneic transplantation. We suggest that ATO may be effective also in advanced APL, but given the short CR, ...
journal_title:Haematologica
pub_type: 信件
doi:
更新日期:2004-05-01 00:00:00