Abstract:
:Investigations of naturally occurring mutations, such as the deletional thalassaemias and hereditary persistence of fetal haemoglobins (HPFHs), have brought many insights into human globin switching, but limited data have been reported so far. We selected 15 individuals with elevated fetal haemoglobin (HbF) levels (>5%) from a previous screening of 27 006 Korean individuals and analysed dosage changes of the globin gene cluster using multiplex ligation-dependent probe amplification (MLPA). Dosage changes detected by the MLPA probes were followed up with gap-polymerase chain reaction and sequence analysis. Three subjects were found to have deletions in the globin gene cluster, including a beta-thalassaemia due to deletion of HBB (beta-globin gene), an HPFH due to deletions of HBD (delta-globin gene) and HBB, and an HPFH due to a novel HBG2-HBG1 fusion gene consisting of exons 1 and 2 of HBG2 ((G)gamma-globin gene) and exon 3 of HBG1 ((A)gamma-globin gene). The case with the HBG2-HBG1 fusion suggested the existence of another mechanism for the reactivation of HBG2 and HBG1. The IVS2 of HBG2 and HBG1might play a role in HbF regulation, and combinations of specific polymorphisms could influence the reactivation of these genes in adults.
journal_name
Br J Haematoljournal_title
British journal of haematologyauthors
Lee ST,Yoo EH,Kim JY,Kim JW,Ki CSdoi
10.1111/j.1365-2141.2009.07927.xsubject
Has Abstractpub_date
2010-01-01 00:00:00pages
154-60issue
1eissn
0007-1048issn
1365-2141pii
BJH7927journal_volume
148pub_type
杂志文章abstract::Tissue factor pathway inhibitor (TFPI) is released to circulating blood after intravenous (i.v.) and subcutaneous (s.c.) injections of heparins, and may thus contribute to the antithrombotic effect of heparins. We have recently shown that total TFPI activity, plasma free TFPI antigen, and heparin releasable TFPI were ...
journal_title:British journal of haematology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1046/j.1365-2141.1999.01791.x
更新日期:1999-12-01 00:00:00
abstract::In four unrelated patients with chronic haemolysis and markedly reduced red blood cell (RBC) glutathione (49.5%, 12.6%, 11.5% and 15% of the normal concentration respectively), a severe glutathione synthetase (GSH-S, EC 6.3.2.3) deficiency was found. One case exhibited a neonatal haemolytic anaemia associated with oxo...
journal_title:British journal of haematology
pub_type: 杂志文章,评审
doi:10.1046/j.1365-2141.2001.02526.x
更新日期:2001-02-01 00:00:00
abstract::An open, randomised study was performed to determine whether two doses of influenza vaccine were more effective than one to elicit an immune response in 70 patients with haematological malignancies. The responses were not improved by two doses compared with one (influenza A virus serotypes H1/N1 18% vs. 22% and H3/N2 ...
journal_title:British journal of haematology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1111/j.1365-2141.2005.05582.x
更新日期:2005-07-01 00:00:00
abstract::With the aim of producing unique targets for malignant cells we have identified peptide ligands for the clonal surface immunoglobulin isolated from the B cells of a chronic lymphocytic leukaemia (CLL) patient. The peptides were identified from random-peptide phage-display libraries. The obtained ligands bound specific...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.0007-1048.2001.03311.x
更新日期:2002-03-01 00:00:00
abstract::The first step in thrombin-induced aggregation of blood platelets is binding of thrombin to specific receptors on the platelet membrane. Elucidation of the nature of this receptor in human platelets was attempted using radioactively labelled thrombin. In disc gel electrophoresis an extract of thrombin-treated platelet...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1975.tb02748.x
更新日期:1975-04-01 00:00:00
abstract::The growth of marrow fibroblasts from patients with myeloproliferative disorders (MPD) was investigated using platelet derived growth factor (PDGF) and human serum as mitogens in the presence of human plasma derived serum. The proliferation of fibroblasts in MPD patients was increased compared to normal individuals, e...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1988.tb07616.x
更新日期:1988-06-01 00:00:00
abstract::The addition of rituximab (R) to CHOP (cyclophosphamide, doxorubicin, vincristine, prednisone) chemotherapy was a milestone in the development of front-line therapy for diffuse large B-cell lymphoma (DLBCL). R-CHOP and equivalent rituximab-containing anthracycline-based regimens are now widely accepted as the standard...
journal_title:British journal of haematology
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2141.2008.07383.x
更新日期:2008-12-01 00:00:00
abstract::The translocation t(14;18) and its t(2;18) and t(18,22) variants, which involve the BCL2 genetic hallmark for follicular lymphoma (FL), have been reported in several cases of chronic B-cell lymphoproliferative disease (CLPD) and frequently in chronic lymphocytic leukaemia (CLL). We describe here the clinical, morpholo...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.2012.09178.x
更新日期:2012-08-01 00:00:00
abstract::Sphingosine-1-phosphate (S1P) is a potent lipid mediator that is produced during the metabolism of sphingolipid by sphingosine kinase. S1P has been implicated in the migration and trafficking of lymphocytes and several lymphoid malignancies through S1P receptors. Moreover, the overexpression of sphingosine-1-phosphate...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/bjh.14054
更新日期:2016-07-01 00:00:00
abstract::Advances in multiple myeloma support the notion that the associated bone disease, characterized by increased osteoclastogenesis and suppressed osteoblastogenesis, is both a consequence and necessity of tumour progression. Osteoblastogenesis is suppressed by secreted inhibitors and dysregulation of cell-surface 'coupli...
journal_title:British journal of haematology
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2141.2010.08141.x
更新日期:2010-05-01 00:00:00
abstract::Neutralizing anti-IFN alpha antibodies (nIFN alpha Abs) occur in a significant proportion of patients with hairy cell leukaemia, hepatitis or solid tumours treated with recombinant IFN alpha (IFN alpha 2a or IFN alpha 2b), but information on their incidence in chronic myeloid leukaemia (CML) is scanty and their clinic...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.1996.d01-1790.x
更新日期:1996-08-01 00:00:00
abstract::Alternative donor bone marrow transplantation (BMT) to treat severe aplastic anaemia (SAA) in children and young adults has been complicated by high rates of graft rejection and severe graft-versus-host disease (GVHD). We hypothesized that increased immunosuppression combined with T-cell depletion of the marrow graft ...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.1996.d01-1772.x
更新日期:1996-07-01 00:00:00
abstract::A new, in-line high-efficiency 3-5 log10 leucodepletion filter system (Leukotrap RC system) was used to investigate the effect of pre-storage white cell removal on the quality of AS-3 red cell concentrates stored for 42 d at 4 degrees C. Median residual white cell content was 4 x 10(5) when filtration was performed at...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1994.tb04923.x
更新日期:1994-06-01 00:00:00
abstract::We describe a patient with a 9-year history of thrombotic thrombocytopenic purpura (TTP) who exhibited four relapses. Intravenous immunoglobulin (IVIg) was effective for these four episodes. The patient was well and the laboratory findings were within normal ranges between each episode, although unusually large von Wi...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.2000.01930.x
更新日期:2000-03-01 00:00:00
abstract::Five out of nine adults (55%) with lymphoblastic disease developed severe avascular necrosis of bone (AVN) when treated with a Berlin-Frankfurt-Munster (BFM) ALL protocol similar to the current joint MRC-ECOG ALL trial (UKALL XII). The principal purpose of these intensified regimens is to improve long-term disease-fre...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1994.tb03287.x
更新日期:1994-01-01 00:00:00
abstract::Salivary gland mucosa-associated lymphoid tissue (MALT) lymphomas (SGML) are rare, as are data concerning their behaviour. We analysed clinical features at presentation, particularly the association with Sjoegren syndrome (SS) and hepatitis C virus (HCV) infection, and outcome in 33 cases of SGML diagnosed between Mar...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.2004.04993.x
更新日期:2004-07-01 00:00:00
abstract::We used a murine model to determine the impact of donor lymphocyte subsets on the incidence of primary marrow graft failure after transplantation of lymphocyte-depleted bone marrow. After lethal irradiation with 7.5 Gy, Balb/c mice received 1 x 10(5) to 4 x 10(7) GvH-nonreactive (C57 x Balb)F1 or GvH-reactive C57Bl/6 ...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1994.tb04980.x
更新日期:1994-09-01 00:00:00
abstract::Hodgkin-Reed Sternberg (H-RS) cells harbour clonal immunoglobulin gene (Ig) rearrangements in almost all cases of classical Hodgkin's disease but lack Ig gene expression. In the H-RS cell line L1236, a somatic mutation of the Ig heavy-chain gene promoter octamer motif has been described as a putative reason for absenc...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.2001.03086.x
更新日期:2001-11-01 00:00:00
abstract::The bcl-2 gene is rearranged in most cases of follicular lymphoma and the breakpoint clusters into two specific regions: mbr and mcr. Rearrangements to immunoglobulin heavy chain genes (IgH) result in a deregulation of the gene and increased transcription of mRNA for the bcl-2 protein. In chronic lymphocytic leukaemia...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.1996.00388.x
更新日期:1996-03-01 00:00:00
abstract::Based on the morphological appearances of the bone marrow and peripheral blood, 43 patients with dysmyelopoietic syndromes were categorized into four types: refractory anaemia with excess of blasts, chronic myelomonocytic leukaemia, primary acquired sideroblastic anaemia and refractory anaemia with cellular marrow, wi...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1982.tb01890.x
更新日期:1982-01-01 00:00:00
abstract::Eleven patients are described in whom myelomatosis was complicated by the laboratory and clinical features of the hyperviscosity syndrome (HVS). The myeloma type was IgA in nine and IgG3 in two. In those patients with IgA myeloma the HVS was related to the presence of high molecular weight complexes in the serum. Remi...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1978.tb01077.x
更新日期:1978-04-01 00:00:00
abstract::Polo-like kinases (Plks) play an important role in cell cycle checkpoint controls and are over-expressed in acute myeloid leukaemia (AML). BI 2536, a novel Plk inhibitor, induces mitotic arrest and apoptosis. In this phase I/II trial of BI 2536 in 68 elderly patients with relapsed/refractory AML, three schedules were ...
journal_title:British journal of haematology
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1111/bjh.12518
更新日期:2013-10-01 00:00:00
abstract::We report stability of a clonal immunoglobulin heavy chain (IgH) gene rearrangement in a case of childhood acute lymphoblastic leukaemia (ALL) relapsing 17 years after completion of first-line therapy. Clonal stability was shown by polymerase chain reaction amplification of the hypervariable CDRIII region of IgH gene....
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.1997.3103129.x
更新日期:1997-09-01 00:00:00
abstract::Peripheral blood stem cell autografts for the treatment of chronic myeloid leukaemia (CML) are currently under evaluation. A patient with CML received intensive chemotherapy followed by granulocyte colony-stimulating factor prior to the collection of peripheral blood derived stem cells. He developed unusually severe, ...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1995.tb05172.x
更新日期:1995-06-01 00:00:00
abstract::The use of L-asparaginase (L-ASP) in paediatric patients with acute lymphoblastic leukaemia (ALL) is associated with thrombotic complications. We evaluated the activities of tissue factor (TFa), thrombomodulin (TMa) and procoagulant phospholipids (PPL) in 26 consecutive children with ALL (25 B-ALL and one T-ALL) treat...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.2009.07958.x
更新日期:2010-02-01 00:00:00
abstract::The existence of a phenomenon of rebound hypercoagulability after cessation of oral anticoagulant therapy is controversial. The sensitive procoagulant markers for in vivo thrombin and fibrin formation are potential tools for the reassessment of the presence of each a phenomenon. We examined 19 patients anticoagulated ...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.1996.d01-1499.x
更新日期:1996-02-01 00:00:00
abstract::Adult T-cell leukaemia lymphoma (ATLL) is an aggressive disease caused by the human T-lymphotropic virus 1 (HTLV-I) with a short survival. Responses to interferon alpha (IFN-alpha) and zidovudine (AZT) have been documented but not with long-term follow-up. We treated 15 ATLL patients with IFN and AZT. Eleven patients ...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.2001.02794.x
更新日期:2001-06-01 00:00:00
abstract::In advanced chronic myeloid leukaemia patients, STI-571 produces complete haematological response in most cases and cytogenetic response in up to 50%. However, these patients often suffer periods of pancytopenia, which can lead to life-threatening complications, and is probably due to the small number of residual norm...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.2002.03542.x
更新日期:2002-07-01 00:00:00
abstract::Two patients with acute immune haemolytic anaemia caused by diclofenac are described. Both patients had developed IgG drug-independent autoantibodies and drug-dependent antibodies. The drug-dependent antibodies in one patient reacted with red blood cells (RBC) only in the presence of urine from patients receiving dicl...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1991.tb08624.x
更新日期:1991-04-01 00:00:00
abstract::Sources for allogeneic stem cells for patients with haematological disorders lacking a histocompatible sibling donor include matched unrelated donor (MUD) and umbilical cord blood (UCB). A total of 51 patients with haematological disorders, treated with myeloablation and transplantation with either unrelated human leu...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.2003.04792.x
更新日期:2004-02-01 00:00:00