Abstract:
:Hemoglobinopathies are the most common autosomal recessive disorders and are mostly inherited in a recessive manner. However, certain mutations can affect the globin chain stability, leading to dominant forms of thalassemia. The aim of this work was the molecular and structural characterization of two heterozygous in-frame deletions, leading to β-globin variants in pediatric patients in Argentina. The HBB gene of the probands and their parents was sequenced, and other markers of globin chain imbalance were analyzed. Several structural analyses were performed, and the effect of the mutations on the globin chain stability was analyzed. In Hb JC-Paz, HBB:c.29_37delCTGCCGTTA (p.Ala10_Thr12del), detected in an Argentinean boy, one α-helix turn is expected to be lost. In Hb Tavapy, HBB:c.182_187delTGAAGG (p.Val60_Lys61del), the deleted residues are close to distal histidine (His63) in the heme pocket. Both mutations are predicted to have a destabilizing effect. The development of computational structural models and bioinformatics algorithms is expected to become a useful tool to understand the impact of the mutations leading to dominant thalassemia.
journal_name
Eur J Haematoljournal_title
European journal of haematologyauthors
Scheps KG,Hasenahuer MA,Parisi G,Targovnik HM,García E,Veber ES,Crisp R,Elena G,Varela V,Fornasari MSdoi
10.1111/ejh.13029subject
Has Abstractpub_date
2018-06-01 00:00:00pages
529-535issue
6eissn
0902-4441issn
1600-0609journal_volume
100pub_type
杂志文章abstract::Iron overload (IO) in the heart is a life-threatening complication in transfusion-dependent patients with thalassaemia major (TM) and to a lesser extent in sickle cell disease (SCD), while no data are available in patients with sickle/beta(0)-thalassaemia. Iron deposition in the heart, liver and pancreas was assessed ...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.2009.01355.x
更新日期:2010-01-01 00:00:00
abstract::Cytosine arabinoside (ara-C) and etoposide are often used in combination in the treatment of acute myelocytic leukemia (AML). The intracellular phosphorylation of ara-C to its 5'-triphosphate (ara-CTP) is a prerequisite for its cytotoxic effects. It has been shown in vitro that etoposide can impair the formation of ar...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.1993.tb00069.x
更新日期:1993-01-01 00:00:00
abstract:OBJECTIVES:As hepcidin-25 is considered as a key regulator of human iron homoeostasis, this study aimed to compare this parameter with conventional biomarkers and diagnostic tools of iron deficiency (ID). METHODS:In total, 233 hospitalised adult patients, who underwent routine blood testing for ID, were included. All ...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/ejh.12523
更新日期:2015-12-01 00:00:00
abstract::Using a multiparameter flow cytometry assay enumerating cells positive for CD13, CD14 and CD66 antigens, we determined the asynchronous CD14/CD66 co-expression in unselected bone marrow and peripheral blood samples with suspected malignant blood disorders. CD14/CD66 co-expression > or = 5% were found in 131/691 bone m...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.1998.tb01098.x
更新日期:1998-11-01 00:00:00
abstract::The European LeukemiaNet (ELN) is composed of several work packages, four of them being directly involved in the various aspects of diagnosis. On the occasion of the annual ELN meeting of 2015 in Mannheim, these four work packages collectively examined the current situation and future prospects of cytomorphology, flow...
journal_title:European journal of haematology
pub_type: 杂志文章,评审
doi:10.1111/ejh.12603
更新日期:2015-10-01 00:00:00
abstract::Iron-related changes in peripheral blood and variations in liver and spleen iron concentrations during alternating periods of hypoxia and normoxia have been investigated in iron-supplemented mice by chemical and histological methods. During hypoxia, packed cell volume increased from 40 to 70%. The iron content of the ...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.1990.tb00348.x
更新日期:1990-01-01 00:00:00
abstract::The aim of the present study was to determine whether angelicin is able to increase the expression of gamma-globin genes in human erythroid cells. Angelicin is structurally related to psoralens, a well-known chemical class of photosensitizers used for their antiproliferative activity in treatment of different skin dis...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1034/j.1600-0609.2003.00113.x
更新日期:2003-09-01 00:00:00
abstract::The effect of rhIL-3 was investigated in 32 patients with newly diagnosed non-Hodgkin lymphoma in a phase I/II trial. All patients received 6 cycles of standard CHOP chemotherapy, and each patient was his own control where rhIL-3 was given as a daily s.c. injection for 14 days (day 2-15) in cycle 2 and 4, while cycle ...
journal_title:European journal of haematology
pub_type: 临床试验,杂志文章
doi:10.1111/j.1600-0609.1995.tb01772.x
更新日期:1995-02-01 00:00:00
abstract::No consecutive analysis of BAALC and WT1 expressions associated with core-binding factor AML (CBF-AML) from diagnosis to hematopoietic stem cell transplantation (HSCT) has yet been reported. We investigated BAALC and WT1 expressions using a method of real-time quantitative polymerase chain reaction (RQ-PCR) at diagnos...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/ejh.12142
更新日期:2013-08-01 00:00:00
abstract::Paraneoplastic neurologic syndromes may develop in Hodgkin's disease (HD). We describe three young female patients with neurological disorders, not explained by other causes, preceding diagnosis or relapse of HD. The lack of response of the paraneoplastic syndrome to successful treatment of HD among our three patients...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1034/j.1600-0609.2001.00240.x
更新日期:2001-01-01 00:00:00
abstract::All-trans retinoic acid (ATRA) has been shown to inhibit in vitro growth of multiple myeloma (MM) cells, and this effect can be further potentiated by the addition of Dexamethasone (DEX). We here extended this study by testing the activity of 9-cis retinoic acid (9-cis RA) and 13-cis retinoic acid (13-cis RA), both al...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.1999.tb01736.x
更新日期:1999-03-01 00:00:00
abstract::In Western countries, the age distribution of Hodgkin lymphoma (HL) follows a characteristic bimodal curve showing an early and a late peak at approximately 35 and 70 yr, respectively. Furthermore, the presence of latent Epstein-Barr virus (EBV) genome in the Hodgkin Reed-Sternberg cells, the tumour cell population of...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/ejh.12463
更新日期:2015-08-01 00:00:00
abstract:PURPOSE:To estimate the clinical significance of low serum concentrations of mannose-binding lectin (MBL) in patients with acute myeloid leukaemia (AML) during initial cancer chemotherapy. PATIENTS AND METHODS:80 consecutive, newly diagnosed, and unselected AML patients (age 18-77 yr) undergoing remission induction ch...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1034/j.1600-0609.2003.00012.x
更新日期:2003-02-01 00:00:00
abstract::Fas (APO-1/CD95) is a 45-kDa membrane protein which regulates apoptosis in many lymphoid cell types. In the present study, FAS expression was examined in primary leukemic cells from infants with acute lymphoblastic leukemia (ALL). The cells were resistant to apoptosis induction by an anti-FAS antibody and expressed ne...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1034/j.1600-0609.2003.00024.x
更新日期:2003-03-01 00:00:00
abstract:OBJECTIVES:MicroRNAs (miRNAs) play key roles in a wide variety of normal and pathological cellular processes. A number of studies identified hematopoietic-specific miRNAs that are necessary for correct function of blood cells. Out of our microarray data, we chose 13 miRNAs that showed differential expression in periphe...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.2008.01111.x
更新日期:2008-10-01 00:00:00
abstract::Involvement of the central nervous system (CNS) in multiple myeloma (MM) is very uncommon; it has been observed in approximately 1% of the MM patients. This review summarizes the clinical and laboratory characteristics and treatment modalities of 109 patients with CNS myelomatosis (CNS MM) reported in the literature. ...
journal_title:European journal of haematology
pub_type: 杂志文章,评审
doi:10.1111/j.1600-0609.2007.00956.x
更新日期:2008-01-01 00:00:00
abstract::A case of hemoglobin H disease in combination with hemoglobin Constant Spring and a beta-globin chain variant is reported in a 3-yr-old Thai girl. On routine cellulose acetate electrophoresis, one abnormal band in addition to the hemoglobins A, A2, H, Bart's and Constant Spring was detected. The amount of this abnorma...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1034/j.1600-0609.2001.066005312.x
更新日期:2001-05-01 00:00:00
abstract::33 patients with advanced refractory multiple myeloma received a combination of vincristine, cyclophosphamide, carmustine, melphalan and steroids (M-2 protocol). 20 of them had failed prior chemotherapy with alkylating agents and the remaining 13 patients had relapsed after a response to these drugs. An objective tumo...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.1988.tb00816.x
更新日期:1988-02-01 00:00:00
abstract::Implantation of Yoshida ascites sarcoma in rats was found to lead to a reduction in the hemoglobin content, the erythrocyte count and the packed cell volume of blood to 30% of normal in 4 d; however, there was no decrease in the mean cell hemoglobin, the mean cell volume and the mean corpuscular hemoglobin concentrati...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1034/j.1600-0609.2002.00543.x
更新日期:2002-01-01 00:00:00
abstract:OBJECTIVE:Little prospective data regarding factors determining patient outcomes in myelodysplastic syndromes (MDS) are available. To establish features of early mortality in MDS, we compare characteristics of patients dying within 1 year of diagnosis with those surviving longer. METHODS:We prospectively enrolled adul...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/ejh.13243
更新日期:2019-07-01 00:00:00
abstract:INTRODUCTION:Chimeric antigen receptor (CAR) T cells targeting B cell maturation antigen (BCMA) have shown impressive results in clinical studies for relapsed/refractory multiple myeloma (RRMM). We performed a systematic literature review to summarize the current body of evidence on the role of anti-BCMA CAR T cells fo...
journal_title:European journal of haematology
pub_type: 杂志文章,meta分析,评审
doi:10.1111/ejh.13380
更新日期:2020-04-01 00:00:00
abstract:OBJECTIVE:To correlate different polymorphisms of the beta-globin cluster with fetal hemoglobin (HbF) level in beta-thalassemia and E-beta thalassemia patients. METHODS:Fifteen thalassemia patients, seven with high HbF and not requiring transfusion, eight with lower HbF and requiring transfusion were studied for beta-...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.2005.00416.x
更新日期:2005-07-01 00:00:00
abstract::A patient who represented acute hemolytic crisis was studied. Analysis of the erythrocyte membrane proteins by SDS-PAGE revealed a deficiency of band 4.2. In the family, the sister of the patient who had been clinically normal was also shown to be deficient in band 4.2. Binding studies showed that the propositus' memb...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.1993.tb00164.x
更新日期:1993-05-01 00:00:00
abstract:BACKGROUND:The single nucleotide polymorphism SNP309 with a change from T to G in the promoter region of the MDM2 gene is shown to increase the MDM2 protein levels and attenuate the p53 levels and associates with disease progression in several tumors. OBJECTIVE:In this study, the role of the polymorphism was investiga...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.2010.01470.x
更新日期:2010-09-01 00:00:00
abstract::In a prognostic univariate analysis of a series of 80 patients with idiopathic myelofibrosis the Hb-concentration, the platelet count and osteomyelosclerosis emerged as factors with prognostic significance. A Hb-concentration less than 10 g/dl was associated with a significantly shorter survival than a Hb-concentratio...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.1990.tb00372.x
更新日期:1990-03-01 00:00:00
abstract:OBJECTIVES:An increased rate of platelet production is a possible cause of reduced antithrombotic response to once-daily aspirin. Markers of immature platelets (IPs), such as immature platelet count (IPC), immature platelet fraction (IPF), and mean platelet volume (MPV) might be useful for identifying patients who have...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/ejh.13109
更新日期:2018-09-01 00:00:00
abstract::Although targeted therapies are used increasingly in hematologic malignancies, we are unaware of any prior studies of radioimmunotherapy (RAIT) in B-acute lymphoblastic leukemia (ALL), even though this radiosensitive tumor expresses CD22, potentially a good target for this approach. Here, we report a patient with Phil...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/ejh.12183
更新日期:2013-12-01 00:00:00
abstract::Alkaline phosphatase (ALP) activity of 70 cases of non-Hodgkin's lymphomas of the B-cell type was studied. ALP activity was found in malignant lymphoma (ML), follicular, small cleaved cell (1/5 cases); ML, diffuse, small cleaved cell (3/13 cases); and mantle zone lymphoma (intermediate lymphocytic lymphoma) (2/2 cases...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.1988.tb01185.x
更新日期:1988-09-01 00:00:00
abstract::Externalization of phosphatidylserine (PS) is thought to contribute to sickle cell disease (SCD) pathophysiology. The red blood cell (RBC) aminophospholipid translocase (APLT) mediates the transport of PS from the outer to the inner RBC membrane leaflet to maintain an asymmetric distribution of PL, while phospholipid ...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/ejh.12506
更新日期:2015-11-01 00:00:00
abstract::Marrow fibroblast colony formation was studied in patients with myeloproliferative disorders, using human serum or platelet-derived growth factor plus plasma-derived serum as growth-stimulating factors. Colony numbers negatively correlated with the patient's age, but were not different from those of controls. However,...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.1990.tb00397.x
更新日期:1990-05-01 00:00:00