Mutation at position -12 of intron 45 (c-->t) plays a prevalent role in the partial skipping of exon 46 from the transcript of allele alphaLELY in erythroid cells.

abstract：:The isoferritin composition of serum ferritin in 13 patients with untreated idiopathic haemochromatosis (IHC) has been shown to differ from normal in exhibiting an increase in isoferritins in the pH range 5.54-5.62. A similar change was observed in four patients with gross iron overload secondary to haemolytic anaemia...

journal_title：British journal of haematology

authors： Halliday JW,McKeering LV,Tweedale R,Powell LW

更新日期：1977-07-01 00:00:00

abstract：:Persistent aplasia is a rare complication with poor prognosis after intensive chemotherapy for acute leukaemia. A 59-year-old man with acute myeloid leukaemia (AML), was treated after 186 d of chemotherapy-induced persistent aplasia with an allogeneic peripheral blood stem cell transplantation (PBSCT) from a matched u...

journal_title：British journal of haematology

authors： Hambach L,Heil G,Hertenstein B,Ganser A

更新日期：2002-08-01 00:00:00

abstract：:The TH line was established by bringing tumour cells from a multiple myeloma patient into suspension culture and subsequently cloning them by limiting dilution. The cultured cells show marked heterogeneity; there are ultrastructural differences between small and large TH cells, particularly with respect to the rough e...

journal_title：British journal of haematology

authors： Weinreich SS,von dem Borne AE,van Lier RA,Feltkamp CA,Slater RM,Wester MR,Zeijlemaker WP

更新日期：1991-10-01 00:00:00

abstract：:Drug-related neutropenia is a common observation in AIDS patients. Haematological growth factors are therefore increasingly used in combination with myelotoxic agents to reduce the risk of infection and to improve the haematological tolerance of these regimens. We report a case of an AIDS patient with Kaposi's sarcoma...

journal_title：British journal of haematology

authors： Hermans P,Gori A,Lemone M,Franchioly P,Clumeck N

更新日期：1994-06-01 00:00:00

abstract：:Type 3 von Willebrand disease, a recessive autosomally inherited bleeding disorder, refers to complete deficiency of von Willebrand factor (VWF). The novel Q1311X mutation was detected in the homozygous state in four Spanish patients from two apparently unrelated families of gypsy origin. The lack of specific amplific...

journal_title：British journal of haematology

authors： Casaña P,Martínez F,Haya S,Lorenzo JI,Espinós C,Aznar JA

更新日期：2000-11-01 00:00:00

abstract：:This case study provides evidence for clonal evolution in pre-B-cell leukaemia. At diagnosis, the lymphoblasts from a 3-year-old boy were morphologically subtyped as L1 (French-American-British classification). Their immunophenotype was CALLA+, CIgM+, SIg-, TdT+, and the karyotype was pseudodiploid with a 1;19 translo...

journal_title：British journal of haematology

authors： Abromowitch M,Williams DL,Melvin SL,Stass S

更新日期：1984-03-01 00:00:00

abstract：:UK National External Quality Assessment Service surveys indicate continuing problems in malaria diagnosis: inaccurate calculation of parasitaemia or failure to estimate it altogether, difficulty distinguishing Plasmodium vivax from P. ovale, reporting malaria parasites when none were present and misidentification of P...

journal_title：British journal of haematology

authors： Bailey JW,Williams J,Bain BJ,Parker-Williams J,Chiodini PL,General Haematology Task Force of the British Committee for Standards in Haematology.

更新日期：2013-12-01 00:00:00

abstract：:Among 80 hereditary spherocytosis (HS) kindreds studied using denaturing electrophoretic separation of solubilized eythrocyte membrane proteins, we recognized three prominent subsets: HS with isolated spectrin deficiency, HS with combined spectrin and ankyrin deficiency, and HS with band 3 deficiency These three subse...

journal_title：British journal of haematology

authors： Dhermy D,Galand C,Bournier O,Boulanger L,Cynober T,Schismanoff PO,Bursaux E,Tchernia G,Boivin P,Garbarz M

更新日期：1997-07-01 00:00:00

abstract：:The significance of paroxysmal nocturnal haemoglobinuria (PNH(pos) ) cells and leucocyte subset telomere lengths in paediatric aplastic anaemia (AA) is unknown. Among 22 children receiving immunosuppressive therapy (IST) for AA, 73% (16/22) were PNH(pos) , of whom 94% achieved at least a partial response (PR) to IST; ...

journal_title：British journal of haematology

authors： Tutelman PR,Aubert G,Milner RA,Dalal BI,Schultz KR,Deyell RJ

更新日期：2014-03-01 00:00:00

abstract：:Dyskeratosis congenita (DC) is an inherited disorder characterized by skin pigmentation, nail dystrophy and mucosal leucoplakia. In 1995 a Dyskeratosis Congenita Registry was established at the Hammersmith Hospital. In the 46 families recruited, 76/83 patients were male, suggesting that the major form of DC is X-linke...

journal_title：British journal of haematology

authors： Knight S,Vulliamy T,Copplestone A,Gluckman E,Mason P,Dokal I

更新日期：1998-12-01 00:00:00

abstract：:Systemic inflammation activates the tissue factor/factor VIIa complex (TF/FVIIa), leading to a procoagulant state, which may be enhanced by impairment of physiological anticoagulant pathways, such as the protein C system. Besides impaired protein C activation, resistance to activated protein C (APC) may occur. We stud...

journal_title：British journal of haematology

authors： de Pont AC,Bakhtiari K,Hutten BA,de Jonge E,Vlasuk GP,Rote WE,Levi M,Büller HR,Meijers JC

更新日期：2006-07-01 00:00:00

abstract：:Marizomib, a natural marine product, is an irreversible proteasome inhibitor currently under investigation in relapsed-refractory multiple myeloma (RRMM) and malignant glioma. Central nervous system-multiple myeloma (CNS-MM) is a rare manifestation of extra-medullary disease with few therapeutic options, highlighting ...

journal_title：British journal of haematology

authors： Badros A,Singh Z,Dhakal B,Kwok Y,MacLaren A,Richardson P,Trikha M,Hari P

更新日期：2017-04-01 00:00:00

abstract：:Microcirculatory disorders are a common finding in sepsis. We have analysed the influence of two factors released in sepsis, endotoxin and tumour necrosis factor (TNF), on rheological properties of blood cells. The deformability of mixed cell suspensions, isolated erythrocytes, mononuclear cells, or polymorphonuclear ...

journal_title：British journal of haematology

authors： Betticher DC,Keller H,Maly FE,Reinhart WH

更新日期：1993-01-01 00:00:00

abstract：:Genotyping of platelet alloantigens with the possibility of using any type of cellular material as a source of DNA has become a preferred procedure, particularly in thrombocytopenic patients when platelet counts are too low for phenotyping. Recently human platelet antigen 1 (HPA-1) has been identified as an inherited ...

journal_title：British journal of haematology

authors： Zotz RB,Giers G,Maruhn-Debowski B,Scharf RE

更新日期：1997-01-01 00:00:00

abstract：:Reducing infectious morbidity is an important goal to improve childhood acute lymphoblastic leukaemia (ALL) survival. To explore the impact of chemotherapy reduction on infectious morbidity, we compared outpatient and inpatient infectious morbidity of reduced versus intensive (conventional) chemotherapy. One hundred a...

journal_title：British journal of haematology

authors： van Tilburg CM,Sanders EA,Nibbelke EE,Pieters R,Revesz T,Westers P,Wolfs TF,Bierings MB

更新日期：2011-02-01 00:00:00

abstract：:In a phase II study, 12 patients with a myelodysplastic syndrome (MDS) and anaemia (nine transfusion-dependent) were treated with recombinant human erythropoietin (rHuEpo) to assess the therapeutic effect on erythropoiesis and on transfusion requirement. Patients with a low risk of developing acute leukaemia were incl...

journal_title：British journal of haematology

authors： van Kamp H,Prinsze-Postema TC,Kluin PM,den Ottolander GJ,Beverstock GC,Willemze R,Fibbe WE

更新日期：1991-08-01 00:00:00

abstract：:Sickle cell disease (SCD) affects approximately 100,000 people in the US, 12,500 in the UK, and millions worldwide. SCD is typified by painful vaso-occlusive episodes, haemolytic anaemia and organ damage. A secondary complication is infection, which can be bacterial, fungal or viral. Universal newborn screening, routi...

journal_title：British journal of haematology

authors： Sobota A,Sabharwal V,Fonebi G,Steinberg M

更新日期：2015-09-01 00:00:00

abstract：:Flow cytometry represents an alternative method to agglutination assays for the accurate quantification of mixed field populations of erythrocytes observed after bone marrow transplantation. Murine monoclonal antibodies directed against the blood group ABH antigens were selected and processed in order to prepare ready...

journal_title：British journal of haematology

authors： Blanchard D,Bruneau V,Bernard D,Germond-Arnoult F,Gourbil A,David B,Muller JY

更新日期：1995-04-01 00:00:00

abstract：:Serum antiplatelet IgG and platelet-associated IgG (PAIgG) were studied in 68 AIDS-free human immunodeficiency virus (HIV)-infected patients with severe immunologic thrombocytopenic purpura (ITP), for the presence of platelet autoantibodies. Serum IgG with antiplatelet activity was found in 72% of the sera. However, t...

journal_title：British journal of haematology

authors： Bettaieb A,Oksenhendler E,Fromont P,Duedari N,Bierling P

更新日期：1989-10-01 00:00:00

abstract：:A case of Evans' syndrome with IgM deficiency and lymphopenia was studied before and after splenectomy. The lymphopenia was as a result of profound reduction of CD4 and CD8 cells. Study of cytokine secretion before splenectomy revealed a spontaneous Th1- and Th2-type cytokine production, and complete suppression of tr...

journal_title：British journal of haematology

authors： Karakantza M,Mouzaki A,Theodoropoulou M,Bussel JB,Maniatis A

更新日期：2000-09-01 00:00:00

abstract：:Phosphatidylserine (PS) externalization may contribute to Sickle Cell Disease (SCD) characteristics including thrombogenesis, endothelial adhesion and shortened red blood cell (RBC) lifespan. Aminophospholipid translocase (APLT) returns externalized PS to the inner membrane, and phospholipid scramblase (PLSCR) equilib...

journal_title：British journal of haematology

authors： Barber LA,Palascak MB,Joiner CH,Franco RS

更新日期：2009-08-01 00:00:00

abstract：:The in vitro efficacies of three new drugs--clofarabine (CLOF), nelarabine (NEL) and flavopiridol (FP) - were assessed in a panel of acute lymphoblastic leukaemia (ALL) cell lines. The 50% inhibitory concentration (IC50) for CLOF across all lines was 188-fold lower than that of NEL. B-lineage, but not T-lineage lines,...

journal_title：British journal of haematology

authors： Beesley AH,Palmer ML,Ford J,Weller RE,Cummings AJ,Freitas JR,Firth MJ,Perera KU,de Klerk NH,Kees UR

更新日期：2007-04-01 00:00:00

abstract：:Chimaerism was studied early (2 weeks to 3 months) during haematopoietic reconstitution after bone marrow transplantation in 18 severe aplastic anaemia patients (acquired SAA: 14 patients; Fanconi anaemia: four patients). Fourteen patients received marrow from an identical sibling donor, one from the phenoidentical fa...

journal_title：British journal of haematology

authors： Socié G,Landman J,Gluckman E,Devergie A,Raynal B,Esperou-Bourdeau H,Brison O

更新日期：1992-03-01 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

authors： de Roux N,Chadeuf G,Molho-Sabatier P,Plouin PF,Aiach M

更新日期：1990-06-01 00:00:00

abstract：:Bone marrow blast cells of 174 child and 188 adult patients with AML were examined and characterized in terms of their FAB type, immunological phenotype (102 children, 123 adults) and karyotype (69 children, 95 adults). The incidence of FAB variants of AML proved similar in children and adults. In patients under 15 an...

journal_title：British journal of haematology

authors： Frenkel MA,Tupitsyn NN,Protasova AK,Kadagidze ZG,Konstantinova LN,Fleischman EW

更新日期：1994-08-01 00:00:00

abstract：:This study was designed to investigate the ability of long-term primary cultures of adult human hepatocytes to secrete the main haemostasis proteins. Factors II, V, VII, VIII, PIVKA-II (protein induced by vitamin K 1 absence or antagonist II), fibrinogen and antithrombin were quantified in culture medium by immunologi...

journal_title：British journal of haematology

authors： Biron-Andréani C,Bezat-Bouchahda C,Raulet E,Pichard-Garcia L,Fabre JM,Saric J,Baulieux J,Schved JF,Maurel P

更新日期：2004-06-01 00:00:00

abstract：:We investigated the molecular basis of factor VII deficiency in a Japanese patient and identified a novel missense mutation in the signal sequence of the gene. Factor VII activity and antigen level measured in the patient were 10.7% and 11% of normal, respectively. All exons except 1B and the 5'-flanking region contai...

journal_title：British journal of haematology

authors： Ozawa T,Takikawa Y,Niiya K,Ejiri N,Suzuki K,Sato S,Sakuragawa N

更新日期：1998-04-01 00:00:00

abstract：:Both atypical haemolytic uraemic syndrome (aHUS) and the HELLP syndrome (haemolytic anaemia, elevated liver enzymes, and low platelets) are thrombotic microangiopathies characterized by microvascular endothelial activation, cell injury and thrombosis. aHUS is a disease of complement dysregulation, specifically a gain ...

journal_title：British journal of haematology

authors： Fang CJ,Richards A,Liszewski MK,Kavanagh D,Atkinson JP

更新日期：2008-11-01 00:00:00

abstract：:Umbilical cord blood transplant (UCBT) is associated with impaired early immune reconstitution. This might be explained by a lower T-cell dose infused, the naivety of cord blood T-cells and the use of in vivo T-cell depletion. We studied the pattern of early immune reconstitution and the clinical outcome of children u...

journal_title：British journal of haematology

authors： Chiesa R,Gilmour K,Qasim W,Adams S,Worth AJ,Zhan H,Montiel-Equihua CA,Derniame S,Cale C,Rao K,Hiwarkar P,Hough R,Saudemont A,Fahrenkrog CS,Goulden N,Amrolia PJ,Veys P

更新日期：2012-03-01 00:00:00

abstract：:Acute promyelocytic leukaemia (APL) is a rare subtype of acute myeloid leukaemia. The outcome of paediatric APL has improved substantially over the past 20 years; cure rates above 80% are expected when all-trans retinoic acid (ATRA) is given with anthracycline-based regimens. The presenting features of paediatric APL ...

journal_title：British journal of haematology

authors： Abla O,Ribeiro RC

更新日期：2014-01-01 00:00:00