Abstract:
:Nd-HPFH are haematological conditions which are natural models to aid understanding of the haemoglobin (Hb) switch. In this paper we describe a new non-deletional hereditary persistence of fetal haemoglobin (nd-HPFH) associated with the highest Hb F level observed to date (up to 49% without haemopoietic stress). Sequence of the G gamma promoter revealed a cytidine insertion within a stretch of four cytidines, located between -200 and -203 bp with respect to the cap site. This insertion is situated within a polypyrimidine-polypurine region which can adopt a triple helix structure, and is therefore of particular interest with respect to the Hb switch mechanism.
journal_name
Br J Haematoljournal_title
British journal of haematologyauthors
Pissard S,M'rad A,Beuzard Y,Roméo PHsubject
Has Abstractpub_date
1996-10-01 00:00:00pages
67-72issue
1eissn
0007-1048issn
1365-2141journal_volume
95pub_type
杂志文章abstract::Screening of the skeleton by plain radiography was compared to magnetic resonance imaging (MRI) of the lumbar spine in 41 patients with multiple myeloma. In the lumbar spine, myeloma lesions were detected in 15 patients with radiography and in 28 patients with MRI. Radiography of the lumbar spine was not positive in a...
journal_title:British journal of haematology
pub_type: 临床试验,杂志文章
doi:10.1111/j.1365-2141.1995.tb05363.x
更新日期:1995-11-01 00:00:00
abstract::Leucocyte interferon production in vitro and circulating interferon levels were studied in healthy subjects and in 80 patients with acute or chronic leukaemia. Circulating interferon was not found in either group. Interferon synthesis in response to a virus was normal in patients with acute leukaemia and appeared to b...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1978.tb03637.x
更新日期:1978-09-01 00:00:00
abstract::Nine patients with Fanconi anaemia (FA) were conditioned for HLA-identical sibling bone marrow transplant (BMT) with reduced dose of cyclophosphamide (Cy) without radiation or antithymocyte globulin (ATG). The total dose of Cy was 140 mg/kg (n = 2) or 120 mg/kg (n = 7). The median patient age was 8 years (range 4-19)....
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.1996.363898.x
更新日期:1996-03-01 00:00:00
abstract::The role of serum macrophage inflammatory protein-1 alpha (MIP-1alpha) in bone disease and survival was evaluated in 85 newly diagnosed multiple myeloma (MM) patients. MIP-1alpha was elevated in MM patients and correlated with the extent of bone disease, bone resorption markers and levels of soluble receptor activator...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.2003.04561.x
更新日期:2003-10-01 00:00:00
abstract::Imatinib mesylate (IM, STI 571, Glivec) can induce a high rate of complete cytogenetic response (CCR) in chronic myeloid leukaemia (CML) patients, although to date the majority of patients continue to have detectable disease by sensitive reverse transcription polymerase chain reaction (RT-PCR). It is therefore possibl...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.2003.04599.x
更新日期:2003-11-01 00:00:00
abstract::An 18-month-old child, who had no evidence of liver disease, malabsorption, or chronic ingestion of coumarin compounds, was found to have plasma deficiencies of factors II, VII, IX and X. Assays for factor II and X by immunological techniques (antibody neutralization and immunoelectrophoresis) revealed normal or eleva...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1980.tb05916.x
更新日期:1980-03-01 00:00:00
abstract::We treated 26 patients with hairy cell leukaemia (HCL) with 2-chlorodeoxyadenosine, including nine with abdominal lymphadenopathy and of whom two had HCL-variant; 18 were previously treated. The overall response in 23 evaluable HCL patients was 100% with 87% complete remission (CR). The CR rate was 57% in patients wit...
journal_title:British journal of haematology
pub_type: 临床试验,杂志文章
doi:10.1046/j.1365-2141.1996.5041045.x
更新日期:1996-05-01 00:00:00
abstract::We retrospectively report data on 28 patients with haematological malignancy and trisomy 13 (25 cases) or tetrasomy 13 (three cases) as the primary acquired cytogenetic change. Peripheral blood and/or bone marrow morphology was reviewed in 25/28 cases and the final diagnosis was as follows: AML M0 (11), AML M1 (6), AM...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.1998.00760.x
更新日期:1998-06-01 00:00:00
abstract::Granulocyte colony-stimulating factor (G-CSF)-induced alteration of phosphoprotein during differentiation of HL-60 cells was studied. From the two-dimensional gel electrophoresis analysis of phosphoproteins, a 45 kD phosphoprotein in the cytosolic fraction of DMSO-pretreated HL-60 cells was rapidly dephosphorylated by...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.1998.00829.x
更新日期:1998-08-01 00:00:00
abstract::Pulmonary hypertension (PH) can complicate myelofibrosis with myeloid metaplasia (MMM), may arise in the absence of evidence for thromboembolic disease and carries a grim prognosis. Four patients with MMM and severe symptomatic PH were treated with whole-lung external beam radiotherapy in a single fraction of 100 cGy....
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.2002.03695.x
更新日期:2002-09-01 00:00:00
abstract::The prognostic relevance of karyotype has been established in adult acute lymphoblastic leukaemia (ALL) patients treated with chemotherapy but not definitively evaluated in an allogeneic bone marrow transplantation (BMT) setting. To determine the factors affecting the outcome of allogeneic BMT for adults with precurso...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.2002.03403.x
更新日期:2002-04-01 00:00:00
abstract::Patients belonging to four families with 'atypical elliptocytosis' have been investigated. Clinical, haematological, erythrokinetic and enzymatic characteristics as well as the effect of splenectomy are discussed. These studies appear to define the fundamental features of a particular disorder or a variety of heredita...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1979.tb03770.x
更新日期:1979-11-01 00:00:00
abstract::Ten characteristics of bone marrow (BM) biopsies in paraffin sections, obtained at diagnosis from patients with myelodysplastic syndromes (MDS) classified according to the FAB criteria, were analysed to identify both the most relevant morphologic data and any possible influence on survival. Agreement between two obser...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1990.tb02612.x
更新日期:1990-05-01 00:00:00
abstract::Two children affected by severe aplastic anaemia (SAA) underwent allogeneic bone marrow transplantation (BMT) using partially matched family donors. In both cases there was a successful engraftment of donor haemopoietic stem cells. However, after an initial erythropoietic recovery, 5 months following BMT both children...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1992.tb04571.x
更新日期:1992-04-01 00:00:00
abstract::Allele alphaLELY is a common low-expression allele of the erythroid spectrin SPTA1 gene. It results in the aggravated expression of hereditary elliptocytosis due to SPTA1 gene mutations occurring in trans. Allele alphaLELY contains, in particular, mutations in introns 45 and 46, both in polypyrimidine tracts, and caus...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.1999.01271.x
更新日期:1999-03-01 00:00:00
abstract::We assessed the role of human CD52 antibody (Campath-1H) in six patients with chronic lymphocytic leukaemia (CLL) treated to maximal response with purine analogues (fludarabine/deoxycoformycin) in whom persistent leukaemic infiltration of blood and bone marrow had precluded autologous stem cell transplantation. Five p...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.1997.1062924.x
更新日期:1997-06-01 00:00:00
abstract::Chronic myeloid leukaemia invariably progresses from a drug-sensitive to a drug-resistant, aggressive acute leukaemia. The mechanisms responsible for this are unknown, although loss of p53 has been reported in approximately 25% of cases. Elevated expression of Bcr-Abl is also associated with disease progression. We ha...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.2003.04538.x
更新日期:2003-10-01 00:00:00
abstract::We have evaluated the function of granulocytes in 14 patients suffering from myelodysplastic syndrome (MDS). We also evaluated the functional and immunochemical activities of five monoclonal antibodies (MoAbs) reactive with the CD11/CD18 leucocyte adhesion molecules of granulocytes. Granulocytes showed a decrease in c...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1993.tb08279.x
更新日期:1993-02-01 00:00:00
abstract::It has been suggested that the iron storage protein ferritin has a number of physiological functions not directly related to iron metabolism and a number of these relate to lymphocyte and macrophage activity. The present study demonstrates a selective distribution of ferritin on lymphocyte and macrophage surface membr...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:
更新日期:1984-08-01 00:00:00
abstract::The primary pathophysiological event in sickling is the intracellular polymerization of deoxygenated haemoglobin S. Tucaresol (589C80;4[2-formyl-3-hydroxyphenoxymethyl] benzoic acid), a substituted benzaldehyde, was designed to interact with haemoglobin to increase oxygen affinity and has been shown to inhibit sicklin...
journal_title:British journal of haematology
pub_type: 临床试验,杂志文章
doi:10.1046/j.1365-2141.1996.d01-1744.x
更新日期:1996-06-01 00:00:00
abstract::Physiological parameters such as pH and oxygen tension probably play significant roles in the regulation of haemopoiesis in the bone marrow microenvironment, but these roles have yet to be characterized in detail. We have found that changes in culture pH (0.2 units) can cause significant changes in the culture composi...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.1998.00975.x
更新日期:1998-11-01 00:00:00
abstract::Treatment with 75 microg/kg/d intravenous (i.v.) anti-D was compared with 50 microg/kg/d in a prospective randomized study of 27 RhD-positive, human immunodeficiency virus-negative, adult, acute, non-splenectomized patients with immune thrombocytopenic purpura (ITP) and platelet counts < or = 30 x 109/l. The higher do...
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.1365-2141.2001.02627.x
更新日期:2001-03-01 00:00:00
abstract::Hereditary haemochromatosis (HH) is an autosomal recessive disorder characterized by excessive intestinal iron absorption resulting in increased pathological body iron stores. It is typically associated with homozygosity for the c.845G>A (p.C282Y) mutation in the HFE gene. However, other HFE alterations have been repo...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.2012.09164.x
更新日期:2012-08-01 00:00:00
abstract::We describe a BCR/ABL rearrangement positive but Philadelphia chromosome negative status in a 9-year-old boy suffering from an acute myelogenous leukaemia (AML). This case was detected in a prospective PCR screening procedure including 21 children with newly diagnosed AML and 150 children with acute lymphoblastic leuk...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1993.tb03077.x
更新日期:1993-06-01 00:00:00
abstract::Non-endemic Burkitt lymphoma (BL) is a rare germinal centre B-cell-derived malignancy with the genetic hallmark of MYC gene translocation and with rapid tumour growth as a distinct clinical feature. To investigate treatment outcomes, loss of lifetime and relapse risk in adult BL patients treated with intensive immunoc...
journal_title:British journal of haematology
pub_type: 杂志文章,多中心研究
doi:10.1111/bjh.16425
更新日期:2020-05-01 00:00:00
abstract::A 29-year-old man in remission from acute myeloblastic leukaemia was treated by chemoradiotherapy and transplantation of bone marrow (BMT) collected from his HLA identical brother. Engraftment was documented on D12. Transient acute GVHD (grade II) appeared from D34. No infection complicated the BMT. Nevertheless sever...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1985.tb07359.x
更新日期:1985-04-01 00:00:00
abstract::Dickkopf-1 (DKK1), expressed by myeloma cells, suppresses osteoblast function and plays a key role in bone disease in multiple myeloma. BHQ880, a human neutralizing IgG1 anti-DKK1 monoclonal antibody, is being investigated for its impact on multiple myeloma-related bone disease and as an agent with potential anti-myel...
journal_title:British journal of haematology
pub_type: 杂志文章,多中心研究
doi:10.1111/bjh.13056
更新日期:2014-11-01 00:00:00
abstract::Acute Human Parvovirus B19 (HPV B19) infection is the major cause of transient red cell aplasia (TRCA) and acute anaemia in patients with sickle cell disease (SCD). We report three cases of patients who developed nephrotic syndrome (NS) with chronic sequelae after initially presenting with HPV B19-associated TRCA. The...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.2009.08062.x
更新日期:2010-04-01 00:00:00
abstract::To assess sources of variability in platelet function tests in normal subjects, 64 healthy young adults were tested on 2-6 occasions at 2 week intervals using four methods: platelet aggregation (AGG) in platelet-rich plasma (PRP) in the Bio/Data PAP-4 Aggregometer (BD) and Chrono-Log Lumi-Aggregometer (CL); and AGG in...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/bjh.12827
更新日期:2014-06-01 00:00:00
abstract::The translocation t(8;16) (p11;p13) was found as the sole deviation from the normal karyotype in three patients with acute monocytic leukaemia. The bone marrow morphology was strikingly similar in the two cases where smears were available for re-evaluation: the leukaemic cells showed signs of differentiation, and acti...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1987.tb06917.x
更新日期:1987-07-01 00:00:00