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 deletion which inactivates one alpha globin gene per chromosome (-alpha/haplotype), a much larger deletion which removes both alpha globin genes (- -/haplotype), and a non-deletion determinant which leaves both alpha globin genes intact. The interaction of these determinants with each other or with the normal chromosome (alpha alpha/) produced the phenotypes alpha thalassaemia silent carrier, alpha thalassaemia trait and Hb H disease. All cases of the -alpha/haplotype result from the rightward deletion which removes the Bgl II site between the duplicated alpha globin genes. The predominance of the -alpha/haplotype (21 out of the 28 alpha thalassaemia determinants) over the - -/haplotype is consistent with the low incidence of Hb H disease and the apparent absence of Hb Bart's hydrops fetalis in this population group.
journal_name
Br J Haematoljournal_title
British journal of haematologyauthors
Mathew CG,Rousseau J,Rees JS,Harley EHdoi
10.1111/j.1365-2141.1983.tb01228.xsubject
Has Abstractpub_date
1983-09-01 00:00:00pages
103-11issue
1eissn
0007-1048issn
1365-2141journal_volume
55pub_type
杂志文章abstract::We studied MDS-associated inhibitory activity, which inhibited colony formation in vitro of granulocyte-macrophage progenitors (CFU-GM). Macrophages obtained from MDS bone marrow mononuclear cells (BM-MNC) when pretreated with granulocyte-macrophage colony stimulating factor (GM-CSF) suppressed the growth of normal CF...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1990.tb02563.x
更新日期:1990-02-01 00:00:00
abstract::Mobilised peripheral blood is now the main source of stem cells collected from normal donors. We report our experience of mobilising and collecting 400 normal healthy donors using standardised procedures and techniques. Target recipient doses were reached with one aphaeresis in 63% of donors and with two aphereses in ...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.2006.06223.x
更新日期:2006-09-01 00:00:00
abstract::This work aimed to provide a means of assaying directly the effects of transient expression of introduced genes on the survival, proliferation, lineage commitment and differentiation of haemopoietic progenitor cells. For this purpose, we have developed a system that allows isolation of productively transfected, muliti...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.2000.02214.x
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abstract::Glucose-6-phosphate dehydrogenase (G6PD) deficient individuals are at increased risk of developing haemolysis following treatment with various antimalarial drugs. Reliable field tests for G6PD deficiency are thus needed in chemotherapy studies and their validity has to be assessed. In two phase II clinical trials on m...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.2005.05778.x
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abstract::Monoclonal antibody (mAb) drugs are desirable for the improvement of multiple myeloma (MM) treatment. In this study, we found for the first time that CD48 was highly expressed on MM plasma cells. In 22 out of 24 MM patients, CD48 was expressed on more than 90% of MM plasma cells at significantly higher levels than it ...
journal_title:British journal of haematology
pub_type: 杂志文章
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更新日期:2012-01-01 00:00:00
abstract::We examined major histocompatibility complex (MHC) class II expression in B cells, peripheral blood monocytes, activated T cells, epidermal Langerhans cells, monocyte-derived dendritic cells, dermal microvascular endothelial cells (DMEC) and fibroblasts of twin brothers with MHC class II deficiency. Although residual ...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.2001.03105.x
更新日期:2001-11-01 00:00:00
abstract::We report the characterization of three variant antithrombins with reduced heparin binding as the primary abnormality. Two of these variants, antithrombin Southport (Leu 99 to Val, 2759 C to G) and antithrombin Vienna (Gln 118 to Pro, 5349 A to C) were novel, whereas the third, Pro 41 to Leu, has been previously descr...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1995.tb08369.x
更新日期:1995-03-01 00:00:00
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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::Thrombopoietin (TPO) is the key growth factor for platelet production and is elevated in states of platelet depletion. As thrombocytopenia is a common finding in malaria, we analysed TPO regulation before, during and after antimalarial treatment. Before treatment, TPO serum levels were significantly higher in patients...
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更新日期:2000-06-01 00:00:00
abstract::Myelofibrosis is characterized by splenomegaly and debilitating constitutional symptoms that negatively impact patients' quality of life. ROBUST, a UK, open-label, phase II study, evaluated the safety and efficacy of ruxolitinib in patients with myelofibrosis (N = 48), including intermediate-1 risk patients. The prima...
journal_title:British journal of haematology
pub_type: 杂志文章,多中心研究
doi:10.1111/bjh.13379
更新日期:2015-07-01 00:00:00
abstract::This review article acknowledges the pioneering contribution of William Bate Hardy in shaping the concept of mast cell heterogeneity. In two outstanding papers, published in 1894 and 1895, he focussed on the 'wandering cells' (the modern leucocytes) in different mammalian species and distinguished two types of granula...
journal_title:British journal of haematology
pub_type: 传,历史文章,杂志文章
doi:10.1111/j.1365-2141.2009.07938.x
更新日期:2010-07-01 00:00:00
abstract::Using artificial receptors, it is possible to redirect the specificity of immune cells to tumour-associated antigens, which is expected to provide a useful strategy for cancer immunotherapy. Given that B-cell non-Hodgkin lymphoma (B-NHL) cells invariably express CD19 and CD38, these antigens may be suitable molecular ...
journal_title:British journal of haematology
pub_type: 杂志文章
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更新日期:2010-10-01 00:00:00
abstract::Down syndrome (DS) children have a 10-20-fold increased risk of developing ALL or AML compared to non-DS children. An increased disomic homozygosity of the polymorphic DNA markers in the pericentromeric region of chromosome 21q (21q11) has repeatedly been found in DS patients with ANLL-M7 and DS-specific transient abn...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.1998.00924.x
更新日期:1998-10-01 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::Identification of the molecular basis of the beta-thalassaemias and sickle cell disease (SCD) has made it clear that patients with the same beta-globin genotypes can have very variable patterns of clinical expression. Extensive biochemical and pathophysiological studies over the last 50 years have derived two major mo...
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pub_type: 杂志文章,评审
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更新日期:2008-05-01 00:00:00
abstract::Erythroid colonies derived from the circulating early erythroid precursor (BFU-E) of a patient with congenital dyserythropoietic anaemia type I (CDA I) have been grown in plasma clot and studied by electron microscopy. The number of circulating BFU-E was in the normal range with a roughly normal appearance at the ligh...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1980.tb05932.x
更新日期:1980-09-01 00:00:00
abstract::To assess and define the effects of heterocellular hereditary persistence of fetal haemoglobin (HPFH) on the haematological phenotype of heterozygous beta-thalassaemia, we have studied a large kindred that included a total of 204 subjects with 60 beta-thalassaemia carriers, of whom 35 were also heterozygous, and five ...
journal_title:British journal of haematology
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更新日期:2003-10-01 00:00:00
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journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1988.tb07616.x
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journal_title:British journal of haematology
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journal_title:British journal of haematology
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doi:10.1111/j.1365-2141.1978.tb01037.x
更新日期:1978-02-01 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 report a patient with congenital homozygous factor V deficiency in whom a large pseudotumour in the right upper leg was successfully surgically excised under continuous substitution with fresh-frozen plasma. ...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.1998.00570.x
更新日期:1998-02-01 00:00:00
abstract::An 'artificial' plasma for one-stage factor-VIII assays is made by incubating human plasma with EDTA, to destroy factor VIII, and afterwards removing the anticoagulant by dialysis. Bovine factor V is then added to a given level. In the assay, contact activation is controlled by adding contact product. It was confirmed...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1978.tb05818.x
更新日期:1978-11-01 00:00:00
abstract::Sialic acid-binding immunoglobulin-like lectin (Siglec)-5 or CD170 is a CD33-related receptor, containing cytoplasmic immune receptor-based tyrosine signalling motifs, that has previously been reported to be myeloid-specific like CD33 and thus may be useful in the characterization of both normal and malignant haemopoi...
journal_title:British journal of haematology
pub_type: 杂志文章
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更新日期:2003-11-01 00:00:00
abstract::In order to investigate whether the clinical behaviour of extranodal natural killer/T-cell lymphoma, nasal type (ENKTL) varies by race within a geographic region, we identified a total of 213 non-Hispanic whites, Hispanics and Asians/Pacific islanders (APIs) diagnosed with ENKTL in the California Cancer Registry betwe...
journal_title:British journal of haematology
pub_type: 杂志文章
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更新日期:2012-03-01 00:00:00
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pub_type: 杂志文章
doi:10.1046/j.1365-2141.1998.00898.x
更新日期:1998-09-01 00:00:00
abstract::Glanzmann's thrombasthenia (GT) results from a qualitative or quantitative defect of GPIIb-IIIa complexes (integrin alphaIIbbeta3). the fibrinogen receptor on platelets. This integrin plays a critical role in platelet aggregation. In this report we describe the molecular abnormalities of a patient with clinical and la...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.1998.00852.x
更新日期:1998-09-01 00:00:00
abstract::Canine cyclic haematopoiesis (CH) appears to be a multipotential stem cell defect, possibly due to an intrinsic marrow defect. The in vitro adherent marrow cells of the cyclic haematopoietic (CH) dog were cultured as underlayers beneath normal dog nonadherent marrow cells. The marrow granulocyte-committed colony formi...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1982.tb01961.x
更新日期:1982-04-01 00:00:00
abstract::Low concentrations of collagen and anticardiolipin antibodies (ACLA), which were raised in rabbits by immunization with cardiolipin (CL), co-operatively activated human gel-filtrated platelets (GFP). GFP activated by adding ACLA 5 min prior to collagen (ACLA + Col) showed strong responses in cytosolic Ca2+ mobilizatio...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.2002.03739.x
更新日期:2002-09-01 00:00:00