Abstract:
:Nondeletional hereditary persistence of fetal hemoglobin (nd-HPFH), a rare hereditary condition resulting in elevated levels of fetal hemoglobin (Hb F) in adults, is associated with promoter mutations in the human fetal globin (HBG1 and HBG2) genes. In this paper, we report a novel type of nd-HPFH due to a HBG2 gene promoter mutation (HBG2:g.-109G>T). This mutation, located at the 3' end of the HBG2 distal CCAAT box, was initially identified in an adult female subject of Central Greek origin and results in elevated Hb F levels (4.1%) and significantly increased Ggamma-globin chain production (79.2%). Family studies and DNA analysis revealed that the HBG2:g.-109G>T mutation is also found in the family members in compound heterozygosity with the HBG2:g.-158C>T single nucleotide polymorphism or the silent HBB:g.-101C>T beta-thalassemia mutation, resulting in the latter case in significantly elevated Hb F levels (14.3%). Electrophoretic mobility shift analysis revealed that the HBG2:g.-109G>T mutation abolishes a transcription factor binding site, consistent with previous observations using DNA footprinting analysis, suggesting that guanine at position HBG2/1:g.-109 is critical for NF-E3 binding. These data suggest that the HBG2:g-109G>T mutation has a functional role in increasing HBG2 transcription and is responsible for the HPFH phenotype observed in our index cases.
journal_name
Ann Hematoljournal_title
Annals of hematologyauthors
Chassanidis C,Kalamaras A,Phylactides M,Pourfarzad F,Likousi S,Maroulis V,Papadakis MN,Vamvakopoulos NK,Aleporou-Marinou V,Patrinos GP,Kollia Pdoi
10.1007/s00277-008-0643-0subject
Has Abstractpub_date
2009-06-01 00:00:00pages
549-55issue
6eissn
0939-5555issn
1432-0584journal_volume
88pub_type
杂志文章abstract::Malignant lymphomas are a heterogenous group of malignancies, belonging to the 10 most frequent types of cancers worldwide. In indolent lymphoma only patients with limited stage I/II (Ann Arbor) can be potentially cured by local irradiation. However, about 85% of cases present with advanced stage; for these patients n...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-004-0850-2
更新日期:2004-01-01 00:00:00
abstract::The rarity of severe complications of this disease in children makes randomized clinical trials in immune thrombocytopenia (ITP) unfeasible. Therefore, the current management recommendations for ITP are largely dependent on clinical expertise and observations. As part of its discussions during the Intercontinental Coo...
journal_title:Annals of hematology
pub_type: 共识发展会议,杂志文章
doi:10.1007/s00277-010-0941-1
更新日期:2010-07-01 00:00:00
abstract::The introduction of rituximab into the primary treatment of malignant lymphomas of the B cell lineage has had a major impact on the management of these diseases. In addition, prolonged exposure to rituximab as maintenance therapy has been beneficial in patients with follicular lymphoma and mantle cell lymphoma. For th...
journal_title:Annals of hematology
pub_type: 杂志文章,随机对照试验
doi:10.1007/s00277-008-0560-2
更新日期:2009-01-01 00:00:00
abstract::This retrospective single-center analysis studied the impact of the conditioning and the graft-versus-host disease (GVHD) prophylaxis on outcome in unselected patients allografted for chronic myelomonocytic leukemia (CMML) and acute myeloid leukemia (AML) secondary to documented prior CMML. A total of 44 patients (med...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-020-03952-4
更新日期:2020-04-01 00:00:00
abstract::Rituximab induces B-cell depletion; therefore, it has been used in the treatment of immune thrombocytopenic purpura (ITP). The aim of this retrospective study was to evaluate the effectiveness of rituximab in the treatment of 89 patients with chronic ITP refractory to several treatments. All the patients had platelet ...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-005-0073-1
更新日期:2006-06-01 00:00:00
abstract::This paper describes six Indian families in which silent-gene beta-thalassemia was encountered by us in the past 2 years. This stresses the importance of globin-chain synthesis in the diagnosis of beta-thalassemia. Of these six cases, five were diagnosed retrospectively when they had a homozygous beta-thalassemia offs...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/BF01715386
更新日期:1995-01-01 00:00:00
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journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-010-1047-5
更新日期:2011-02-01 00:00:00
abstract::Expression of long non-coding RNA KIAA0125 has been incorporated in various gene expression signatures for prognostic prediction in acute myeloid leukemia (AML) patients, yet its functions and clinical significance remain unclear. This study aimed to investigate the clinical and biological characteristics of AML beari...
journal_title:Annals of hematology
pub_type: 临床试验,杂志文章
doi:10.1007/s00277-020-04358-y
更新日期:2021-02-01 00:00:00
abstract::Secondary central nervous system (CNS) involvement in diffuse large B-cell lymphoma (DLBCL) includes an isolated CNS relapse or CNS involvement with systemic disease progression. This rare but fatal clinical problem still remains a therapeutic dilemma in the management of DLBCL. However, there are limited data about i...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-010-1104-0
更新日期:2011-05-01 00:00:00
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journal_title:Annals of hematology
pub_type: 杂志文章,多中心研究
doi:10.1007/s00277-016-2884-7
更新日期:2017-03-01 00:00:00
abstract::Since December 2019, a novel coronavirus has spread throughout China and across the world, causing a continuous increase in confirmed cases within a short period of time. Some studies reported cases of thrombocytopenia, but hardly any studies mentioned how the virus causes thrombocytopenia. We propose several mechanis...
journal_title:Annals of hematology
pub_type: 杂志文章,评审
doi:10.1007/s00277-020-04019-0
更新日期:2020-06-01 00:00:00
abstract::Systemic AL amyloidosis is associated with nearly 15% of cases of multiple myeloma, but data on the frequency and significance of amyloid deposits in the bone marrow of patients affected by multiple myeloma without clinical signs of systemic amyloidosis are scanty. Bone marrow smears of 166 unselected patients affecte...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-009-0857-9
更新日期:2010-05-01 00:00:00
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journal_title:Annals of hematology
pub_type: 临床试验,杂志文章
doi:10.1007/s00277-018-3423-5
更新日期:2018-11-01 00:00:00
abstract::The present meta-analysis was undertaken to (1) assess erythroid response rates in myelodysplastic syndromes (MDS) patients treated with epoetin alfa as a monotherapy, (2) gain further insights into predictors of response rates, and (3) compare the erythroid response rates observed with epoetin alfa and darbepoetin al...
journal_title:Annals of hematology
pub_type: 杂志文章,meta分析,评审
doi:10.1007/s00277-008-0450-7
更新日期:2008-07-01 00:00:00
abstract::Organizing pneumonia (OP) is a poorly understood complication of hematopoietic stem cell transplant (HSCT). We identified 15 patients diagnosed with OP following HSCT and described their clinical course. CT chest findings were remarkable for multifocal infiltrates that were predominantly consolidating or ground glass ...
journal_title:Annals of hematology
pub_type: 临床试验,杂志文章
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更新日期:2019-09-01 00:00:00
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journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-006-0139-8
更新日期:2006-10-01 00:00:00
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journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/BF01703239
更新日期:1993-04-01 00:00:00
abstract::Increasing the number of megakaryocytic cells in stem cell transplants by ex vivo expansion culture may provide an approach to accelerate platelet engraftment after high-dose chemotherapy. However, it is unknown if a relationship exists between the expansion potential of progenitor cells and the time to platelet engra...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-002-0443-x
更新日期:2002-04-01 00:00:00
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journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-007-0313-7
更新日期:2007-11-01 00:00:00
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journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s002770000196
更新日期:2000-10-01 00:00:00
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journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-020-03927-5
更新日期:2020-04-01 00:00:00
abstract::An acute leukemia with an unusual immunophenotype developed in a 17-year-old girl. At the initial presentation, extramedullary involvement was not evident, but with advancing disease, massive splenomegaly and an osteolytic rib tumor developed. The disease was aggressive and refractory to intensive chemotherapeutic reg...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s002770050472
更新日期:1999-01-01 00:00:00
abstract::Controversy remains regarding the transplant outcomes of human leukocyte antigen-identical related bone marrow transplantation (BMT) and peripheral blood stem cell transplantation (PBSCT) for the treatment of patients with hematological malignancies. To provide an estimate of the effect of BMT and PBSCT on clinical ou...
journal_title:Annals of hematology
pub_type: 杂志文章,meta分析
doi:10.1007/s00277-011-1299-8
更新日期:2012-03-01 00:00:00
abstract::Chronic lymphocytic leukaemia (CLL) is the most common leukaemia in European adults. We aimed to evaluate time trends in CLL incidence and medical resource utilisation of CLL patients in the UK. We conducted a retrospective, observational cohort analysis using the UK Clinical Practice Research Datalink (CPRD) comprisi...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-014-2217-7
更新日期:2015-03-01 00:00:00
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journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-002-0445-8
更新日期:2002-05-01 00:00:00
abstract::Due to their homing properties, extranodal marginal zone B-cell lymphoma (MZBL) of mucosa-associated lymphoid tissue (MALT) type remain localized for long periods of time, and therefore have an excellent prognosis. However, if generalization and/or transformation into a diffuse large-cell lymphoma occurs, the prognosi...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s002770000203
更新日期:2000-12-01 00:00:00
abstract::Immune thrombocytopenia (ITP) is characterised by a transient or persistent decrease in platelets accompanied by an increased risk of bleeding, which can have a significant negative impact on patients' health-related quality of life. The condition has long been associated with an increased rate of immune-mediated plat...
journal_title:Annals of hematology
pub_type: 杂志文章,评审
doi:10.1007/s00277-010-0953-x
更新日期:2010-07-01 00:00:00
abstract::Post-transplantation cyclophosphamide (PTCy) demonstrated effectiveness to prevent GVHD after haploidentical hematopoietic cell transplantation (HCT). Reducing toxicities with a maximized efficacy is still challenging in HCT. In this retrospective study, we analyzed the safety and efficacy of transplantation from a 1-...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-019-03673-3
更新日期:2019-06-01 00:00:00
abstract:BACKGROUND:Low folate intake and changes in folate metabolism due to polymorphisms in the methylentetrahydrofolate reductase (MTHFR) gene have been associated with myelomagenesis. However, controversial data have been published regarding a protective role of variant alleles of MTHFR on MM. PATIENTS AND METHODS:To inve...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-006-0097-1
更新日期:2006-07-01 00:00:00
abstract::Stored red blood cells become deficient in nitric oxide that limits their ability to transfer oxygen to tissues that need it. The aims of this study are to assess the endogenous nitric oxide metabolites (NOx) and arginase I levels in transfusion-dependent β-thalassemic patients; to compare these levels in patients tra...
journal_title:Annals of hematology
pub_type: 杂志文章
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更新日期:2012-08-01 00:00:00