Abstract:
BACKGROUND AND OBJECTIVES:The modulation of disease severity in hemophilia A (HA) patients may be related to the co-inheritance of mutations in genes with a known thrombotic effect such as factor V Leiden (FVL) and prothrombin. In the Spanish population, the prothrombin 20210A (PT20210A) allele is the most prevalent genetic risk factor for venous thromboembolism. DESIGN AND METHODS:We investigated the presence of both mutations in a cohort of 265 hemophiliac patients divided into two groups: I) 140 unrelated patients with moderate and mild HA and II) 125 unrelated patients with severe HA (83 carrying an inversion of intron 22). RESULTS:In group I, 4 patients had the FVL (2.8% vs. 2.98% controls) and 5 had the PT20210A (3.6% vs. 6.46% controls). In group II, two patients with inversion had the FVL (1.6%) and PT20210A was found in 10 patients (8%), five of them with inversion of intron 22 without inhibitors. One of these patients had the FVL and PT20210A mutations concomitantly. In the subgroup of patients with inversion who were carriers of the PT20210A, three parameters i.e. spontaneous bleeding (p=0.008), factor VIII utilization (p=0.016) and number of hemophilic arthropathies (p<0.0005) were significantly lower than in a subgroup of 11 age-matched non-PT20210A severe HA patients with inversion and without inhibitors. INTERPRETATION AND CONCLUSIONS:These results indicate that the inheritance of PT20210A could be a protective factor that mitigates the clinical severity of HA.
journal_name
Haematologicajournal_title
Haematologicaauthors
Tizzano EF,Soria JM,Coll I,Guzmán B,Cornet M,Altisent C,Martorell M,Domenech M,del Río E,Fontcuberta J,Baiget Mkeywords:
subject
Has Abstractpub_date
2002-03-01 00:00:00pages
279-85issue
3eissn
0390-6078issn
1592-8721journal_volume
87pub_type
杂志文章相关文献
HAEMATOLOGICA文献大全abstract:BACKGROUND AND OBJECTIVES:Recent progress in the development of diagnostic techniques has greatly facilitated the monitoring of minimal residual disease (MRD) in patients with chronic myeloid leukemia (CML) after allogeneic bone marrow transplantation (BMT), the only curative treatment for this disease. The presence of...
journal_title:Haematologica
pub_type: 杂志文章,评审
doi:
更新日期:2000-10-01 00:00:00
abstract::Interactions between chronic lymphocytic leukemia (CLL) B cells and the bone marrow (BM) microenvironment play a major function in the physiopathology of CLL. Extracellular vesicles (EVs), which are composed of exosomes and microparticles, play an important role in cell communication. However, little is known about th...
journal_title:Haematologica
pub_type: 杂志文章
doi:10.3324/haematol.2016.163337
更新日期:2017-09-01 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 AND OBJECTIVES:The Hong Kong government is planning to introduce an electronic smart identity card for all seven million citizens in 2003. If the smart card contains the full red cell phenotype/genotype of the individual, it may be possible to transfuse phenotype-matched blood units without pre-transfusion a...
journal_title:Haematologica
pub_type: 杂志文章
doi:
更新日期:2001-07-01 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::The risk of developing premature ovarian failure and azoospermia is a major concern in long-term survivors treated for Hodgkin's lymphoma. Alkylating chemotherapy containing procarbazine and/or cyclophosphamide causes prolonged azoospermia in 90-100% of men and premature ovarian failure in 5-25% of women under the age...
journal_title:Haematologica
pub_type: 杂志文章,评审
doi:10.3324/haematol.2011.045856
更新日期:2011-11-01 00:00:00
abstract:BACKGROUND:Polymorphic differences between donor and recipient human leukocyte antigen class I molecules can result in graft-versus-host disease due to distinct peptide presentation. As part of the peptide-loading complex, tapasin plays an important role in selecting peptides from the pool of potential ligands. Class I...
journal_title:Haematologica
pub_type: 杂志文章
doi:10.3324/haematol.2011.046037
更新日期:2012-01-01 00:00:00
abstract:BACKGROUND AND OBJECTIVES:CD20 has been proposed as a novel suicide gene system for the treatment of graft-versus-host disease (GVHD), a fatal complication of allogeneic bone marrow transplantation: indeed expression of the human non-immunogenic exogenous CD20 protein allows positive immunoselection of transduced cells...
journal_title:Haematologica
pub_type: 杂志文章
doi:
更新日期:2004-01-01 00:00:00
abstract:BACKGROUND AND OBJECTIVES:Whether degree of iron stores influences progression of human immunodeficiency virus (HIV) disease is controversial. We studied the relationship of indirect measures of iron stores with mortality in highly active antiretroviral therapy (HAART)-naive participants from the Women's Interagency HI...
journal_title:Haematologica
pub_type: 杂志文章,多中心研究
doi:
更新日期:2006-06-01 00:00:00
abstract:BACKGROUND AND OBJECTIVES:The strongest risk factor identified for inhibitor development in people with severe hemophilia A is the type of factor VIII gene mutation. The objective of this study was to evaluate the mutation type dependent concordance rate of inhibitor formation in siblings. DESIGN AND METHODS:The gene ...
journal_title:Haematologica
pub_type: 杂志文章
doi:
更新日期:2005-07-01 00:00:00
abstract::The effect of treatment with 1,25-dihydroxyvitamin D3 administered at the dose of 1.50-3.00 ug/day for at least 12 months was evaluated in three patients with idiopathic myelofibrosis and in five patients with idiopathic thrombocythemia. This treatment did not cause any significant change in the hematological values o...
journal_title:Haematologica
pub_type: 杂志文章
doi:
更新日期:1990-05-01 00:00:00
abstract:BACKGROUND:Children with Down syndrome have an increased risk of developing acute lymphoblastic leukemia and a poor tolerance of methotrexate. This latter problem is assumed to be caused by a higher cellular sensitivity of tissues in children with Down syndrome. However, whether differences in pharmacokinetics play a r...
journal_title:Haematologica
pub_type: 杂志文章
doi:10.3324/haematol.2009.019778
更新日期:2010-07-01 00:00:00
abstract::The occurrence of immunoglobulin heavy chain (IgH) and/or T-cell receptor (TcR) gene rearrangements has been reported in some cases of acute non lymphoid leukemia (ANLL), and variously interpreted as reflecting "aberrant gene expression" or "lineage promiscuity" of the leukemic cell. In an attempt to verify the incide...
journal_title:Haematologica
pub_type: 杂志文章
doi:
更新日期:1990-03-01 00:00:00
abstract::Elucidating the regulation mechanism of integrin αIIbβ3 is key to understand platelet biology and thrombotic diseases. Previous in vitro studies have implicated a role of migfilin in the support of platelet αIIbβ3 activation, however, contribution of migfilin to thrombosis and hemostasis in vivo and a detailed mechani...
journal_title:Haematologica
pub_type: 杂志文章
doi:10.3324/haematol.2019.232488
更新日期:2020-11-01 00:00:00
abstract:BACKGROUND AND OBJECTIVES:Folate deficiency in the general population is associated with a risk of cardiovascular disease and various cancers. The aim of this study was to evaluate folate status in Italian blood donors and its relationship with gender and smoking habit. DESIGN AND METHODS:A prospective study of 201 fi...
journal_title:Haematologica
pub_type: 杂志文章
doi:
更新日期:2000-07-01 00:00:00
abstract:BACKGROUND AND OBJECTIVE:A novel role for shedding of the surface molecule L-selectin has been proposed as an adjunctive phenomenon during cell detachment from marrow stroma or vessel endothelium. We wished to examine whether variations in expression of L-selectin on a lymphoma B cell line were linked to shedding. DES...
journal_title:Haematologica
pub_type: 杂志文章
doi:
更新日期:1999-09-01 00:00:00
abstract::Tumor microenvironment (TME) and limited immune surveillance play important roles in lymphoma pathogenesis. Here, we aimed to characterize immunological profiles of diffuse large B-cell lymphoma (DLBCL), and predict the outcome in response to immunochemotherapy. We profiled the expression of 730 immune-related genes i...
journal_title:Haematologica
pub_type: 杂志文章
doi:10.3324/haematol.2019.243626
更新日期:2020-02-20 00:00:00
abstract::The introduction of agents inhibiting the BCR-associated kinases such as ibrutinib has dramatically changed treatments algorithms of chronic lymphocytic leukaemia (CLL) as well as the role of different adverse prognosticators. We evaluated the efficacy of ibrutinib as single agent, in a real-life context, on 180 patie...
journal_title:Haematologica
pub_type: 杂志文章
doi:10.3324/haematol.2020.251488
更新日期:2020-07-30 00:00:00
abstract::JAK2 V617F, identified in the majority of patients with myeloproliferative neoplasms, tyrosine phosphorylates SOCS3 and escapes its inhibition. Here, we demonstrate that the JAK2 exon 12 mutants described in a subset of V617F-negative MPN cases, also stabilize tyrosine phosphorylated SOCS3. SOCS3 tyrosine phosphorylat...
journal_title:Haematologica
pub_type: 杂志文章
doi:10.3324/haematol.2008.002352
更新日期:2009-04-01 00:00:00
abstract:BACKGROUND:Phosphatidylserine exposure by red blood cells is acknowledged as a signal that initiates phagocytic removal of the cells from the circulation. Several disorders and conditions are known to induce phosphatidylserine exposure. Removal of phosphatidylserine-exposing red blood cells generally occurs by macropha...
journal_title:Haematologica
pub_type: 杂志文章
doi:10.3324/haematol.2011.048694
更新日期:2012-04-01 00:00:00
abstract::We investigated gastrointestinal graft-versus-host-disease using capsule endoscopy in patients with abdominal pain and/or diarrhea. We found severe pathology involving most of the gut including loss of villi, ulcerations, narrowing, bleeding and fistula formation. In 2 patients, capsule endoscopy alone established the...
journal_title:Haematologica
pub_type: 信件
doi:
更新日期:2005-07-01 00:00:00
abstract::Rituximab plus CHOP (R-CHOP) has been proven to increase overall survival in aggressive bcl-2-positive lymphoma patients. Using competing risk analysis, we studied the long-term impact of this treatment in patients from a GELA trial: R-CHOP prevented from progression or relapse in both bcl-2-positive and bcl-2-negativ...
journal_title:Haematologica
pub_type: 信件
doi:
更新日期:2006-05-01 00:00:00
abstract:BACKGROUND:Chimeric oncogenes encoding constitutively active protein tyrosine kinases are associated with chronic myeloid neoplasms. TEL-PDGFRbeta (TPbeta, also called ETV6-PDGFRB) is a hybrid protein produced by the t(5;12) translocation, FIP1L1-PDGFRalpha (FPalpha) results from a deletion on chromosome 4q12 and ZNF19...
journal_title:Haematologica
pub_type: 杂志文章
doi:10.3324/haematol.2008.001149
更新日期:2009-08-01 00:00:00
abstract:BACKGROUND:Research on prognostically relevant immunohistochemical markers in diffuse large B-cell lymphomas has mostly been performed on retrospectively collected clinical data. This is also true for immunohistochemical classifiers that are thought to reflect the cell-of-origin subclassification of gene expression stu...
journal_title:Haematologica
pub_type: 杂志文章
doi:10.3324/haematol.2009.008862
更新日期:2009-11-01 00:00:00
abstract::Translocation t(9;14)(p13;q32) involving PAX5 and IGH genes was first described in lymphoplasmacytic lymphoma. New data suggest that this translocation is not restricted to a specific morphologic subtype but occurs in other B-cell lymphomas. We present three cases with a diagnosis of splenic marginal zone lymphoma and...
journal_title:Haematologica
pub_type: 信件
doi:
更新日期:2006-09-01 00:00:00
abstract::To date, few mutations associated with a dominant quantitative deficiency of von Willebrand factor (VWF) and a high penetrance have been reported. This phenotype was confirmed in seven unrelated families of several patients diagnosed with von Willebrand's disease out of 70 who requested genetic studies of the VWF gene...
journal_title:Haematologica
pub_type: 杂志文章
doi:
更新日期:2006-08-01 00:00:00
abstract:BACKGROUND AND OBJECTIVE:A prospective study to evaluate the role of fludarabine alone or in combination with idarubicin in untreated patients with mantle cell lymphoma (MCL). DESIGN AND METHODS:Twenty-nine untreated patients with mantle cell lymphoma were stochastically treated with intravenous fludarabine at a dose ...
journal_title:Haematologica
pub_type: 临床试验,杂志文章
doi:
更新日期:1999-11-01 00:00:00
abstract::Clinical and hematologic characteristics of beta(β)-thalassemia are determined by several factors resulting in a wide spectrum of severity. Phenotype modulators are: HBB mutations, HBA defects and fetal hemoglobin production modulators (HBG2:g.-158C>T polymorphism, HBS1L-MYB intergenic region and the BCL11A). We chara...
journal_title:Haematologica
pub_type: 杂志文章,多中心研究
doi:10.3324/haematol.2014.113886
更新日期:2015-04-01 00:00:00
abstract::Comparative analyses of the leukocyte differential counting were performed using a Coulter VCS Hematology Flow Cytometer and direct microscopic observation on 547 unselected individuals analyzed at the outpatient clinic of the Institute of Hematology "L. e A. Seràgnoli" of Bologna. The Coulter VCS is able to provide l...
journal_title:Haematologica
pub_type: 杂志文章
doi:
更新日期:1990-09-01 00:00:00
abstract::Juvenile hemochromatosis is a severe form of hereditary iron overload. It can be caused by mutations in either hepcidin or hemojuvelin genes. In this study we identified the molecular basis of juvenile hemochromatosis in three Australian families and assessed the role of potential modifying genes in individuals carryi...
journal_title:Haematologica
pub_type: 信件
doi:
更新日期:2005-02-01 00:00:00