Abstract:
:Eight patients who were carriers of beta-thalassemia induced by the cd121 (G-->T) mutation are described in four nonrelated Dutch families. This mutant, which is considered rare and inherited in a dominant manner, is expressed in a different way among each of the four families and even among carriers of the same family. The symptoms vary from an hemolytic anemia of intermediate gravity with hepatosplenomegaly, inclusion bodies and erythroblastosis, to a mild anemia with minor hematological abnormalities. We report the analytical procedures used for the detection of the mutant, the hematological and clinical data of the four families and discuss the variable physiopathology of this molecular defect. We also compare the variation in fetal hemoglobin expression in relation to the haplotypes of the beta-gene cluster and to the different hematological conditions. The presence of this rare mutant in four nonrelated Dutch families could derive from a single mutation or from multiple events. The existence of the four mutations in three different haplotypes suggests the occurrence of at least two independent events. The presence of five abnormal hemoglobins and the beta-thalassemia defect on different haplotypes at cd121 also suggests a relatively increased rate of mutations at this particular site.
journal_name
Ann Hematoljournal_title
Annals of hematologyauthors
Giordano PC,Harteveld CL,Michiels JJ,Terpstra W,Schelfhout LJ,Appel IM,Batelaan D,van Delft P,Plug RJ,Bernini LFdoi
10.1007/s002770050453subject
Has Abstractpub_date
1998-12-01 00:00:00pages
249-55issue
6eissn
0939-5555issn
1432-0584journal_volume
77pub_type
杂志文章abstract::Arsenic trioxide (As2O3) is a highly effective agent in the treatment of acute promyelocytic leukemia (APL), whereas other hematopoietic tumors are less responsive to this agent and mechanisms underlying As2O3,-resistance are poorly understood. To better understand the complex network of GSH-related pathways in As2O3 ...
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
abstract::Cancer incidence in patients with recurrent unprovoked venous thromboembolism (VTE) is much higher than after a first event, but the incidence of myeloproliferative neoplasms (MPN) in this situation is still unknown. We tested for JAK2V617F and calreticulin mutants, 372 DNA samples of patients treated for (VTR). Among...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-016-2853-1
更新日期:2017-03-01 00:00:00
abstract::The severity of thalassemia is currently classified based on clinical manifestations and multiple tests. In the present study, we performed a plasma proteome analysis to identify differentially expressed proteins compared between normal subjects and patients with mild and severe forms of β-thalassemia/hemoglobin E (Hb...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-012-1629-5
更新日期:2013-03-01 00:00:00
abstract::The B cell surface antigen CD19 is a target for treating B cell malignancies, such as B cell precursor acute lymphoblastic leukemia and B cell non-Hodgkin lymphoma. The BiTE® immuno-oncology platform includes blinatumomab, which is approved for relapsed/refractory B cell precursor acute lymphoblastic leukemia and B ce...
journal_title:Annals of hematology
pub_type: 杂志文章,评审
doi:10.1007/s00277-020-04221-0
更新日期:2020-10-01 00:00:00
abstract::We conducted a nationwide cohort study of adult Danish patients with primary chronic immune thrombocytopenia (cITP) to examine selected patient and clinical characteristics as predictors for splenectomy. We analyzed data from the Danish National Patient Registry and patient medical records from 1996 to 2007. Using Cox...
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::Bernard-Soulier syndrome (BSS) is a rare autosomal recessive genetic disorder characterized by thrombocytopenia, circulating giant platelets, and prolonged bleeding time. BSS is explained by a defect in primary hemostasis owing to quantitative or qualitative defect in the GPIb-IX-V complex, composed of four subunits: ...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-008-0611-8
更新日期:2009-05-01 00:00:00
abstract::Hydroxyurea is increasingly being used to control myeloproliferative disorders, in part because of its relative lack of side effects. We present a case of life-threatening alveolitis in a patient treated with hydroxyurea for myeloproliferative syndrome. Absence of exposure to other drugs and the clinical course sugges...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/BF01701737
更新日期:1993-09-01 00:00:00
abstract::Vitamin K2 induces differentiation of leukemic cell lines and apoptosis of immature blasts in myelodysplastic syndrome (MDS). We recently reported a case of MDS-refractory anemia (MDS-RA) with trilineage hematologic response to oral administration of menatetrenone, a vitamin K2 analog. To determine a possible role of ...
journal_title:Annals of hematology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1007/s00277-001-0391-x
更新日期:2002-01-01 00:00:00
abstract::von Willebrand disease (VWD) is the commonest inherited bleeding disorder, yet it has not been well recognized in Southeast Asia. The aim of this prospective study was to report our experience of VWD diagnosis and to establish the clinical presentations of VWD in Taiwan. From October 2003 to April 2010, 863 patients w...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-011-1266-4
更新日期:2011-10-01 00:00:00
abstract::The frequency of apoptotic cells in bone marrow trephine biopsies and cytospins of immunomagnetically isolated myeloid progenitor cells was determined in 39 patients with chronic idiopathic neutropenia (CIN) and 12 hematologically normal individuals using the in situ end-labeling (ISEL) apoptosis detection method. We ...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-003-0709-y
更新日期:2003-10-01 00:00:00
abstract::The prognostic value of cytogenetics in adult acute lymphoblastic leukemia (ALL) is not as established as in childhood ALL. We have analyzed the outcome and prognostic value of karyotype in 84 adults diagnosed with Philadelphia-negative ALL from a single institution that received induction chemotherapy and had success...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-011-1331-z
更新日期:2012-01-01 00:00:00
abstract::This study aimed to systematically review the prognostic value of interim and end-of-treatment (18)F-fluoro-2-deoxy-D-glucose positron emission tomography (FDG-PET) in follicular lymphoma during and after first-line therapy. The PubMed/MEDLINE database was searched for relevant original studies. Included studies were ...
journal_title:Annals of hematology
pub_type: 杂志文章,评审
doi:10.1007/s00277-015-2553-2
更新日期:2016-01-01 00:00:00
abstract::Relapse remains one of the major obstacles in Philadelphia chromosome-positive acute lymphoblastic leukemia (Ph+ALL) even after allogeneic hematopoietic stem cell transplantation. The persistence of leukemia-propagating cells (LPCs) may lead to the recurrence of Ph+ALL. Using a xenograft assay, LPCs enrichment in the ...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-018-3253-5
更新日期:2018-05-01 00:00:00
abstract::Acute Epstein-Barr virus (EBV) infection commonly induces hematological abnormalities, most notably atypical lymphocytosis ("infectious mononucleosis"). In addition, mild decreases in platelet counts are commonly encountered in uncomplicated cases; however, severe thrombocytopenia is exceedingly rare. Here, we describ...
journal_title:Annals of hematology
pub_type: 杂志文章,评审
doi:10.1007/s00277-002-0557-1
更新日期:2002-11-01 00:00:00
abstract::We designed a study to describe the incidence of intracranial hemorrhage according to severity and duration of thrombocytopenia and to quantify the associations of platelet transfusions with intracranial hemorrhage in patients with acute leukemia. In this case-control study nested in a cohort of 859 leukemia patients,...
journal_title:Annals of hematology
pub_type: 杂志文章,多中心研究
doi:10.1007/s00277-020-04298-7
更新日期:2021-01-01 00:00:00
abstract::The objective of this study was to investigate whether metabolic tumor volume (MTV) by positron emission tomography (PET) can be a potential prognostic tool when compared with Ann Arbor stage, in stages II and III nodal diffuse large B cell lymphoma (DLBCL). We evaluated 169 patients with nodal stages II and III DLBCL...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-011-1357-2
更新日期:2012-05-01 00:00:00
abstract::The absence of researches about autophagy in multiple myeloma promoted us to explore the biological characteristics and role of autophagy induced by nutrient depletion in multiple myeloma (MM) cell line RPMI8226 cells. Both autophagic and apoptotic morphology were observed by TUNEL, transmission electron microscopy (T...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-011-1315-z
更新日期:2012-03-01 00:00:00
abstract::The evidence that leukocytes may contribute to the pathogenesis of thrombosis in Chronic Myeloproliferative Neoplasms is increasing but not definitive. To further enforces whether an increased leukocyte count is associated with thrombosis and whether this effect can be modulated by cytoreductive therapy, we analyzed t...
journal_title:Annals of hematology
pub_type: 杂志文章,多中心研究
doi:10.1007/s00277-009-0706-x
更新日期:2009-10-01 00:00:00
abstract::The most common causes of morbidity and mortality in myeloproliferative neoplasms (MPN) are thrombotic and hemorrhagic complications. The JAK2V617F mutation, commonly found in MPN, correlates with several clinical and laboratory characteristics even if the relevance of JAK2V617F allele burden in the natural history of...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-017-3040-8
更新日期:2017-08-01 00:00:00
abstract::Lower dosage of total body irradiation (TBI) and chemotherapy in reduced-intensity conditioning (RIC) regimens prior to allogeneic stem cell transplantation have reduced the toxicity of the conditioning and non-relapse mortality. The FLAMSA-RIC protocol for high-risk patients with acute myeloid leukemia (AML) and myel...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-011-1253-9
更新日期:2012-01-01 00:00:00
abstract::Reactive oxygen intermediates (ROI) generated in the respiratory burst reaction are crucial for the killing of bacteria and fungi in phagocytes. The key enzyme for the respiratory burst reaction is the NADPH oxidase. Reactive oxygen intermediates have additionally been proposed to be of general importance for the expr...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-003-0837-4
更新日期:2004-04-01 00:00:00
abstract::In vivo, growth factors are currently investigated for their capacity to trigger leukemic stem cells into cycle and thus overcome kinetic drug resistance. In this study, the susceptibility of leukemic clonogenic cells to individual growth factors was related to cytosine-arabinoside (Ara-C) sensitivity. The effects of ...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/BF01737421
更新日期:1994-05-01 00:00:00
abstract::Obesity is a well-known risk factor for the development of cancer, but its influence on the course of disease is still controversial. We investigated the influence of body mass index (BMI) on overall survival (OS) in 502 patients with indolent non-Hodgkin's lymphoma or mantle cell lymphoma in a subgroup analysis of th...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-017-3003-0
更新日期:2017-07-01 00:00:00
abstract:PURPOSE AND METHODS:Nowadays more people are becoming older. The median age of a patient with non-Hodgkin's lymphoma (NHL) at diagnosis is over 60 years. The incidence of NHL in elderly has increased in the last decades. Therefore, in the future, NHL will be diagnosed more often in the elderly. Data of all patients in ...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s002770000255
更新日期:2001-03-01 00:00:00
abstract::The best treatment option for patients with relapsed or high-grade follicular lymphoma (FL) is unknown. In spite of major advances in the therapy for FL, disease-free survival remains short, and median time to progression is just over a year. Autologous stem cell transplantation in patients with relapsed FL is safe an...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-005-1058-9
更新日期:2005-08-01 00:00:00
abstract::We describe the beneficial effect of recombinant alpha 2b interferon in a woman with an idiopathic and refractory IgM-mediated autoimmune hemolytic anemia due to low-titer, high-thermal-amplitude cold agglutinins. The response was partial but sustained, 2 months after interruption of interferon, with hemoglobin concen...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/BF01695696
更新日期:1994-09-01 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
abstract::Patients with primary refractory or relapsed acute myeloid leukemia (AML) who undergo intensive salvage chemotherapy carry a high risk of treatment failure due to infectious complications and early relapses. The study presented here assessed the effect of granulocyte colony-stimulating factor (G-CSF) on the duration o...
journal_title:Annals of hematology
pub_type: 临床试验,杂志文章
doi:10.1007/s002770050425
更新日期:1998-09-01 00:00:00
abstract::Polycythemias or erythrocytoses in childhood and adolescence are very rare. Systematic data on the clinical presentation and laboratory evaluations as well as on treatment regimens are sparse. The diagnostic program in absolute erythrocytosis includes extensive clinical, hematological, biochemical, and molecular biolo...
journal_title:Annals of hematology
pub_type: 杂志文章,评审
doi:10.1007/s00277-004-0985-1
更新日期:2005-03-01 00:00:00
abstract::This study retrospectively analyzed the clinical outcome of 172 children with newly diagnosed severe aplastic anemia (SAA) between January 2008 and April 2018, who received rabbit antithymocyte globulin (ATG) and cyclosporine (CsA) as first-line treatment. The median age at diagnosis was 5 years (range, 1-14). The ove...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-020-04296-9
更新日期:2021-01-01 00:00:00