Abstract:
:Analysis of factor IX gene polymorphisms is considered the best approach for prenatal diagnosis and carrier detection of haemophilia B when the identification of the gene mutation is not possible. Studies involving factor IX gene polymorphisms in Black populations are scarce and essentially restricted to the North-American Black population whose composition is substantially different from that of the Brazilian and presumably other Black populations of South America. In this paper we report the analysis of eight factor IX gene polymorphisms in Brazilian Blacks: 5' BamHI, DdeI, intron 2 BamHI, XmnI, TaqI, TaqI, MspI, MnlI and HhaI. Characterization of the VNTR-like DdeI polymorphism revealed six different alleles: B, AB, A2B, A2B2, A3B and A5B, the last being described here for the first time. The 5' BamHI, DdeI, MspI and HhaI polymorphisms showed the highest heterozygosities (0.40-0.50) and are in linkage equilibrium with one another. 19 complete haplotypes could be identified in this population. Based on the results we propose a systematic strategy for carrier detection and prenatal diagnosis of haemophilia B in this population. The combined analysis of four polymorphisms (5' BamHI, HhaI, MspI and DdeI) provided an informative genetic marker in 85% of the females. The use of all eight polymorphisms allows information in 95% of females. Additionally, differences in gene frequencies and haplotype distribution suggest dissimilarities in factor IX gene polymorphisms between the Brazilian and the North-American Black populations.
journal_name
Br J Haematoljournal_title
British journal of haematologyauthors
Figueiredo MS,Bowen DJ,Silva Júnior WA,Zago MAdoi
10.1111/j.1365-2141.1994.tb06739.xsubject
Has Abstractpub_date
1994-08-01 00:00:00pages
789-96issue
4eissn
0007-1048issn
1365-2141journal_volume
87pub_type
杂志文章abstract::Lysosomal enzyme activities and isoenzyme profiles were measured in lymphoid and non-lymphoid leukaemic cells from childhood patients. High activities, especially of beta-hexosaminidase and alpha-mannosidase, were associated with leukaemic cells of myeloid or monocytic origin. Leukaemic cells from two children with ac...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1985.tb02970.x
更新日期:1985-01-01 00:00:00
abstract::After T-cell depleted marrow transplantation, there is a rapid recovery of cytotoxic effector cells, with activity against targets not susceptible to killing by 'resting' natural killer cells. These targets include Epstein-Barr virus transformed B cells and leukaemic cell lines. Activated killer cell function declines...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1987.tb02347.x
更新日期:1987-11-01 00:00:00
abstract::We have investigated the molecular basis of alpha thalassaemia in the so-called 'Cape Coloured' population of Cape Town. DNA from 17 cases was analysed by Southern blotting and hybridization with an alpha globin complementary DNA probe. Three types of alpha thalassaemia genetic determinants were detected: the 3.5 kb d...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1983.tb01228.x
更新日期:1983-09-01 00:00:00
abstract::Bruton's tyrosine kinase (BTK) was previously demonstrated to be a mediator of oxidative stress-induced apoptosis in irradiated neoplastic B-cells and B-cell precursors. Defective BTK expression in leukaemic B-cell precursors from infants with t(4;11) acute lymphoblastic leukaemia has been associated with radiation re...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.2006.06468.x
更新日期:2007-02-01 00:00:00
abstract::The prevalence of Helicobacter pylori infection and the effect of its eradication on platelet count in 48 Japanese patients with autoimmune thrombocytopenic purpura (AITP), including 40 chronic idiopathic thrombocytopenic purpura (ITP) and eight secondary AITP, were investigated. H. pylori infection was found in 25 IT...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.2002.03612.x
更新日期:2002-08-01 00:00:00
abstract::Flow cytometry was used to determine the percentage and number of circulating CD34+ cells in fetal blood from 100 pregnancies at 13-38 weeks gestation. When expressed as a percentage of the total number of lymphocytes, the proportion of CD34+ cells decreased exponentially from a mean of 11.1% (9.2 x 10(7)/l) at 13 wee...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1994.tb08328.x
更新日期:1994-07-01 00:00:00
abstract::Myelodysplastic syndromes (MDS) and the mixed myelodysplastic/myeloproliferative disorder juvenile myelomonocytic leukaemia (JMML) are rare haematopoietic stem cell diseases in children. While MDS-initiating events remain largely obscure, a growing body of clinical, genetic and laboratory evidence suggests that JMML i...
journal_title:British journal of haematology
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2141.2007.06958.x
更新日期:2008-03-01 00:00:00
abstract::Antithrombin III (AT) levels from normal and AT deficiency persons were measured by electroimmunoassay (EIA) and the results compared with a chromogenic assay (S2238). Discrepant results were obtained when plasma and serum were compared using one antiserum, and therefore did not always relate to functional activity. A...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1980.tb05967.x
更新日期:1980-10-01 00:00:00
abstract::Interferon(rIFN)-alpha, a successful therapeutic agent in the control of thrombocytosis, has been shown to suppress human megakaryopoiesis. We investigated bone marrow biopsies from 12 patients with thrombocytosis due to chronic myeloproliferative disorders. Prior to treatment as well as during rIFN-alpha-2c therapy, ...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1990.tb02531.x
更新日期:1990-01-01 00:00:00
abstract::Children with neutropenia of more than 3 months duration often have evidence of immune-mediated destruction of mature neutrophils and variable abnormalities of myeloid precursors in their bone marrow. These patients often have anti-neutrophil antibodies which persist for several months. To further investigate the aeti...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1993.tb08645.x
更新日期:1993-09-01 00:00:00
abstract::A study has been made of a number of haematological and haemorheological factors following venesection therapy. Haematocrit was very effectively reduced by the venesection regimen and led to a fall in whole blood viscosity in spite of the microcytosis that was eventually induced in all the subjects. No clinically sign...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1986.tb04090.x
更新日期:1986-04-01 00:00:00
abstract::Peripheral blood levels of BFU-e, CFU-GM and CFU-mix were studied serially in nine patients with acute leukaemia in remission during the period of recovery that followed induction or consolidation chemotherapy. Following 23 courses of treatment in the nine patients, the values for all three classes of progenitor were ...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1989.tb07645.x
更新日期:1989-05-01 00:00:00
abstract::Alpha haemoglobin stabilising protein (AHSP) binds free alpha-globin chains and plays an important role in the protection of red cells, particularly during beta-thalassaemia. Murine ASHP was discovered as a GATA-1 target gene and human AHSP is directly regulated by GATA-1. More recently, AHSP was rediscovered as a hig...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.2006.06381.x
更新日期:2007-01-01 00:00:00
abstract::The role of autologous stem cell transplantation (ASCT) and the optimal timing of such transplants in patients with follicular lymphoma (FL) remains contentious. We present a single-centre experience documenting the outcomes of 70 FL patients who underwent BEAM (carmustine, cytarabine, etopside, melphalan)-conditioned...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/bjh.12741
更新日期:2014-05-01 00:00:00
abstract::We report the results of consecutive tests in nine BCR-ABL-positive ALL patients by one-step and two-step (nested primer) reverse transcriptase-polymerase chain reaction (RT-PCR). Six patients could be tested in complete haematological remission (CHR). One patient remained one-step positive; four patients became one-s...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1995.tb08444.x
更新日期:1995-04-01 00:00:00
abstract::We report a child with acute promyelocytic leukaemia (APL) who was treated with etoposide (VP16) for Langerhans cell histiocytosis (LCH). A 3-year-old Japanese girl was diagnosed as having LCH. She was treated with combination chemotherapy using VP16 and prednisolone. 56 months after beginning the chemotherapy she dev...
journal_title:British journal of haematology
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2141.1994.tb04851.x
更新日期:1994-04-01 00:00:00
abstract::Long term outcomes and mutations in patients with mantle cell lymphoma (MCL) who discontinued ibrutinib have not been described. Using deep targeted next generation sequencing, we performed somatic mutation profiling from 15 MCL patients (including 5 patients with paired samples; before and after progression on ibruti...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/bjh.15567
更新日期:2018-11-01 00:00:00
abstract::Bone mineral content (BMC) of the radius was measured using single photon absorptiometry (SPA) in nine children with congenital neutropenia. Five had normal values. Two children with severe congenital neutropenia (SCN) had low BMC, and two boys with Schwachman syndrome had biochemistry suggestive of rickets. ...
journal_title:British journal of haematology
pub_type: 杂志文章,多中心研究
doi:10.1046/j.1365-2141.1997.1302945.x
更新日期:1997-06-01 00:00:00
abstract::We evaluated the performance of eight d-assays for the exclusion of deep vein thrombosis (DVT); Biopool AutoDimer, Biopool MiniQuant, bioMèrieux MDA D-Dimer, VIDAS, Dade Behring D-Dimer Plus, Trinity Biotech AMAX, NycoCard D-dimer and IL Test D-Dimer. The assays were evaluated both as stand-alone tests, and in combina...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.2005.05394.x
更新日期:2005-03-01 00:00:00
abstract::We have tested the different mononuclear blood cell populations of seven patients with severe haemophilia and one patient with F VII deficiency for the presence of HBV DNA. These subjects were all polytransfused with non-heated coagulation factors; three were HBsAg positive, five HBsAg negative but anti-HBc and anti-H...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1987.tb02262.x
更新日期:1987-02-01 00:00:00
abstract::Major histocompatibility complex class I molecule expression is reduced in some malignant tumours permitting escape from immune surveillance and is therefore associated with a poor prognosis. Seven cases of non-Hodgkin lymphomas out of 300 cases of malignant lymphoproliferative disorders totally lacked expression of c...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.1998.00631.x
更新日期:1998-03-01 00:00:00
abstract::Five monoclonal antibodies have been tested for their ability to bind to myeloid precursor cells in normal human bone marrow. Indirect immunofluorescence and the fluorescence activated cell sorter was used to separate cells according to their reactivity for trial culture in vitro in order to grow granulocyte-macrophag...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1981.tb07217.x
更新日期:1981-10-01 00:00:00
abstract::We describe a familial study of AT III, a type III antithrombin III variant which was identified in the propositus by gene analysis as Pro 41 Leu heterozygous mutation. None of the four members of the family who presented with defective heparin cofactor (hep-cofactor) activity, and therefore probably carried the mutat...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1990.tb02653.x
更新日期:1990-06-01 00:00:00
abstract::The haematological changes in early years following neonatal diagnosis have been observed in representative groups of children with sickle cell-haemoglobin C (SC) disease, sickle cell-beta(+) thalassaemia, and in sickle cell-beta(0) thalassaemia. Most haematological indices in SC disease were intermediate between prev...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1985.tb07414.x
更新日期:1985-06-01 00:00:00
abstract::SAn ageing population and the continuing expansion of clinical indications for coumadin therapy have increased pressure on hospital anticoagulant clinics. One solution is patient self-testing (PST) of the international normalized ratio (INR) using capillary blood samples on point-of-care coagulation monitors at home. ...
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.1365-2141.2004.05300.x
更新日期:2005-01-01 00:00:00
abstract::Crude barium chloride eluates prepared from 12 unrelated patients with cross-reacting material positive (CRM+) haemophilia B were activated with celite eluate, the reaction products resolved after reduction by 13% SDS-PAGE, and factor IX antigenic material detected by probing with radiolabelled immunopurified rabbit a...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1989.tb04323.x
更新日期:1989-08-01 00:00:00
abstract::beta2-glycoprotein I (beta2GPI) bears the epitope(s) for autoimmune anticardiolipin antibodies (aCL) frequently present in patients with antiphospholipid syndrome (APS). beta2GPI is involved in coagulation and fibrinolytic systems, including inhibition of contact activation. Coagulation factor XII is an initiator of i...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.2002.03928.x
更新日期:2002-12-01 00:00:00
abstract::We performed a retrospective analysis of outcome in 45 patients with multiple myeloma receiving unrelated donor stem cell transplants (UD-SCT) in the UK between 1993 and 2002; 17 received myeloablative conditioning regimens and 28 received reduced intensity conditioning (RIC) protocols. Forty patients received pretran...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.2003.04714.x
更新日期:2003-12-01 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::In spite of several studies of immunoglobulin (Ig) gene rearrangements in whole Hodgkin's disease (HD) tissues and in isolated single Reed-Sternberg (RS) cells, the issue of clonality of the RS cell in HD remains incompletely resolved. Analysis of X-chromosome inactivation patterns (XCIPs) can be used to determine whe...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.1999.01727.x
更新日期:1999-12-01 00:00:00