Severe haemophilia A in a female resulting from two de novo factor VIII mutations.

abstract：:Juvenile haemochromatosis or haemochromatosis type 2 is a rare autosomal recessive disorder which causes iron overload at a young age, affects both sexes equally and is characterized by a prevalence of hypogonadism and cardiopathy. Patients with haemochromatosis type 2 have been reported in different ethnic groups. Li...

journal_title：British journal of haematology

authors： De Gobbi M,Roetto A,Piperno A,Mariani R,Alberti F,Papanikolaou G,Politou M,Lockitch G,Girelli D,Fargion S,Cox TM,Gasparini P,Cazzola M,Camaschella C

更新日期：2002-06-01 00:00:00

abstract：:The inverse of the difference between rates, called the 'number needed to treat' (NNT), was suggested 20 years ago as a good way to present the results of comparisons of success or failure under different therapies. Such comparisons usually arise in randomised controlled trials and meta-analysis. This article reviews ...

journal_title：British journal of haematology

authors： Hutton JL

更新日期：2009-06-01 00:00:00

abstract：:This study shows a marked and protracted activation of HbF synthesis in homozygous beta.-thalassaemia patients transplanted from HLA identical siblings heterozygous for beta-thalassaemia, as compared to patients transplanted from normal donors. HbF synthesis in recipients was much higher in relation to the correspondi...

journal_title：British journal of haematology

authors： Galanello R,Barella S,Maccioni L,Paglietti E,Melis MA,Rosatelli MC,Argiolu F,Cao A

更新日期：1989-08-01 00:00:00

abstract：:There are considerable differences in haemopoietic activity between young children and adults on the one hand, and between adults and the elderly on the other. A fundamental unanswered question is whether these differences relate to discrete stages or are part of a continuous process. We have sought to define aspects ...

journal_title：British journal of haematology

authors： Marley SB,Lewis JL,Davidson RJ,Roberts IA,Dokal I,Goldman JM,Gordon MY

更新日期：1999-07-01 00:00:00

abstract：:t(11;18)(q21;q21) has been recognized as a characteristic chromosomal translocation in mucosa-associated lymphoid tissue (MALT)-type lymphoma, and recent studies have demonstrated that this translocation results in the chimaeric transcript of API2 (apoptosis inhibitor 2)-MALT1 (mucosa-associated lymphoid tissue lympho...

journal_title：British journal of haematology

authors： Yonezumi M,Suzuki R,Suzuki H,Yoshino T,Oshima K,Hosokawa Y,Asaka M,Morishima Y,Nakamura S,Seto M

更新日期：2001-12-01 00:00:00

abstract：:Patients with sickle cell disease (SCD) with high fetal haemoglobin (HbF) tend to have a lower incidence of complications and longer survival due to inhibition of deoxyhaemoglobin S (HbS) polymerisation by HbF. HbF-containing cells, namely F cells, are strongly influenced by genetic factors. We measured the percentage...

journal_title：British journal of haematology

authors： Urio F,Nkya S,Rooks H,Mgaya JA,Masamu U,Zozimus Sangeda R,Mmbando BP,Brumat M,Mselle T,Menzel S,Luzzatto L,Makani J

更新日期：2020-10-19 00:00:00

abstract：:The clinical significance of Aspergillus fungaemia in the setting of a deep-seated aspergillosis has not been clearly established. Among 107 microbiologically documented Aspergillus infections in patients with haematological diseases observed over a 17-year period, blood cultures grew Aspergillus species from 10 cases...

journal_title：British journal of haematology

authors： Girmenia C,Nucci M,Martino P

更新日期：2001-07-01 00:00:00

abstract：:A patient with pure red cell aplasia (PRCA) and autoimmune haemolytic anaemia (AIHA), associated with a thymoma which had already been removed, was studied in order to investigate the pathogenesis of PRCA and AIHA. The autoantibody eluted from the surface of the patient's red blood cells (RBC) reacted with the large E...

journal_title：British journal of haematology

authors： Taniguchi S,Shibuya T,Morioka E,Okamura T,Okamura S,Inaba S,Niho Y

更新日期：1988-04-01 00:00:00

abstract：:Virchow's triad describes three factors that contribute to the development of venous thrombosis: hypercoagulability, stasis and endothelial injury. Yet, extensive review of the historical literature casts doubt on the existence of a triad described by Virchow in the form it is currently quoted throughout contemporary ...

journal_title：British journal of haematology

authors： Bagot CN,Arya R

更新日期：2008-10-01 00:00:00

abstract：:A new putative hepatitis virus has recently been discovered and termed GB virus C (GBV-C). We investigated the prevalence of this virus among 50 haemophiliacs treated with non-virus-inactivated clotting factor concentrates prior to 1985 and 21 haemophiliacs treated exclusively with virus-inactivated clotting factor co...

journal_title：British journal of haematology

authors： Uhle C,Zimmermann R,Goeser T,Seelig R

更新日期：1997-12-01 00:00:00

abstract：:We describe a simple approach for molecular characterization and locus assignment of structural mutants by direct sequencing of enzymatically amplified DNA selective to alpha 1 and alpha 2 globin gene regions. Nucleotide substitution of two structural variants (Stanleyville II alpha 2(78Lys) and J Mexico alpha 2(54Glu...

journal_title：British journal of haematology

authors： Dodé C,Rochette J,Krishnamoorthy R

更新日期：1990-10-01 00:00:00

abstract：:Cord blood (CB) has successfully been used as a stem cell source for haemopoietic reconstitution. However, a significant delay in platelet engraftment is consistently found in CB versus adult peripheral blood (PB) or bone marrow transplants. We sought to determine whether or not CB megakaryocytes have reached terminal...

journal_title：British journal of haematology

authors： Bornstein R,García-Vela J,Gilsanz F,Auray C,Calés C

更新日期：2001-08-01 00:00:00

abstract：:This study assessed the recruitment to an acute myeloid leukaemia (AML) trial (AML15) in a single centre, evaluated whether outcome was influenced by trial entry and whether the trial population could be considered representative of all AML patients by retrospective comparison of patient characteristics, trial entry a...

journal_title：British journal of haematology

authors： Stevens JM,Macdougall F,Jenner M,Oakervee H,Cavenagh J,Lister AT

更新日期：2009-04-01 00:00:00

abstract：:The incidence of alpha-thalassaemia in an Italian population has been determined by a survey of random cord bloods for the presence of Hb Bart's. 144 out of 4730 (3%) had detectable amounts of Hb Bart's. Furthermore, alpha-globin gene analysis of 100 random cord bloods showed that five out of 100 had the common type o...

journal_title：British journal of haematology

authors： Velati C,Sampietro M,Biassoni M,Cappellini MD,Wainscoat JS,Higgs DR,Fiorelli G

更新日期：1986-07-01 00:00:00

abstract：:Sixty patients with von Willebrand's disease belonging to 34 unrelated families were classified into the various types of the disease by analysis of the multimer patterns of von Willebrand factor. Type I disease was observed in 62% of the families, a finding similar to the recently published British and Swedish series...

journal_title：British journal of haematology

authors： Berliner SA,Seligsohn U,Zivelin A,Zwang E,Sofferman G

更新日期：1986-03-01 00:00:00

abstract：:In a 61-year-old man with glucose-6-phosphate dehydrogenase (G6PD) deficiency and poorly controlled non-insulin-dependent diabetes mellitus, an episode of acute haemolysis occurred after the administration of glyburide (glibenclamide). Erythrocyte fragmentation, with haemoglobin condensation zones next to clear zones,...

journal_title：British journal of haematology

authors： Meloni G,Meloni T

更新日期：1996-01-01 00:00:00

abstract：:During the 3 years 1984-86, 314 cases of multiple myeloma were diagnosed in the Health Care Region of Western Sweden. 180 of these cases were included in a clinical trial; 71 were notified to the trial but excluded; 49 cases were not reported to the trial; 14 were diagnosed post mortem. The crude incidence rate of mye...

journal_title：British journal of haematology

authors： Hjorth M,Holmberg E,Rödjer S,Westin J

更新日期：1992-01-01 00:00:00

abstract：:We report the clinical outcome and results of chimaerism analysis in various cell lineages of 30 patients given non-myeloablative conditioning, followed by allogeneic stem cell transplantation (SCT). The commonest diagnoses were chronic myelogenous leukaemia (n = 11) and solid tumours (n = 11). Twenty-one patients rec...

journal_title：British journal of haematology

authors： Mattsson J,Uzunel M,Brune M,Hentschke P,Barkholt L,Stierner U,Aschan J,Ringdén O

更新日期：2001-12-01 00:00:00

abstract：:Use of asparaginase (ASNase) in the treatment of relapsed childhood acute lymphoblastic leukaemia (ALL) is associated with a high rate of hypersensitive reactions. 'Silent' inactivation may additionally reduce treatment intensity. Therefore, PEG-ASNase (Oncaspar), a polyethylene glycol conjugate of the native Escheric...

journal_title：British journal of haematology

authors： Vieira Pinheiro JP,Müller HJ,Schwabe D,Gunkel M,Casimiro da Palma J,Henze G,von Schütz V,Winkelhorst M,Würthwein G,Boos J

更新日期：2001-04-01 00:00:00

abstract：:Previous studies have shown that interleukin 2 (IL2) production by peripheral blood mononuclear cells (PBMC) is severely impaired post allogeneic bone marrow transplantation, whereas production of interferon-gamma (IFN-gamma) is at most marginally depressed. To investigate the mechanisms behind this apparently differe...

journal_title：British journal of haematology

authors： Cooley MA,McLachlan K,Atkinson K

更新日期：1989-11-01 00:00:00

abstract：:The past decade has seen an explosion of interest in the epigenetics of cancer, with an increasing understanding that this form of genomic modification plays a critical role in pathogenesis. The malignant phenotype results from a step-wise increase of both genetic abnormalities and epigenetic modifications, leading to...

journal_title：British journal of haematology

authors： Boultwood J,Wainscoat JS

更新日期：2007-07-01 00:00:00

abstract：:The BRAF V600E mutation has recently been described in all cases of hairy cell leukaemia (HCL). We have developed and validated a rapid and sensitive high-resolution melting analysis (HRMA) assay that detects BRAF exon 15 mutations when hairy cells are as low as 5-10% in a sample. All 48 HCL patients were positive for...

journal_title：British journal of haematology

authors： Boyd EM,Bench AJ,van 't Veer MB,Wright P,Bloxham DM,Follows GA,Scott MA

更新日期：2011-12-01 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

authors： Challoner T,Briggs C,Rampling MW,Thomas DJ

更新日期：1986-04-01 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

authors： Flowers ME,Zanis J,Pasquini R,Deeg HJ,Ribeiro R,Longton G,Medeiros CR,Doney K,Sanders J,Bryant J

更新日期：1996-03-01 00:00:00

abstract：:A novel human leukaemia cell line, designated TMD7, was established from blast cells of a patient with de novo acute myeloblastic leukaemia with trilineage myelodysplasia (AML/TLD). As seen in the original blast cells, TMD7 cells expressed CD7, CD13, CD33 and CD34 and showed an abnormal karyotype containing -5, -7, -8...

journal_title：British journal of haematology

authors： Tohda S,Sakano S,Ohsawa M,Murakami N,Nara N

更新日期：2002-05-01 00:00:00

abstract：:Refractory anaemia with ring sideroblasts (RARS) is distinguished by hyperplastic inefficient erythropoiesis, aberrant mitochondrial ferritin accumulation and anaemia. Heterozygous mutations in the spliceosome gene SF3B1 are found in a majority of RARS cases. To explore the link between SF3B1 mutations and anaemia, we...

journal_title：British journal of haematology

authors： Conte S,Katayama S,Vesterlund L,Karimi M,Dimitriou M,Jansson M,Mortera-Blanco T,Unneberg P,Papaemmanuil E,Sander B,Skoog T,Campbell P,Walfridsson J,Kere J,Hellström-Lindberg E

更新日期：2015-11-01 00:00:00

abstract：:Human amniotic fluid has been shown to contain blood group i as well as I antigens. Crude extracts of amniotic fluids at 16-23 weeks of gestation were in general more active than those obtained at term. A pool of amniotic fluids which had A, B, H as well as I and i activity was fractionated with an insolubilized anti-...

journal_title：British journal of haematology

authors： Feizi T,Cederqvist LL,Childs R

更新日期：1975-08-01 00:00:00

abstract：:Multiple myeloma (MM) is currently incurable, and novel therapies are needed. In this study, we examined a novel recombinant humanized monoclonal antibody against CD40 (rhuCD40 mAb) and demonstrate for the first time that rhuCD40 mAb induces antibody-dependent cell-mediated cytotoxicity (ADCC) against CD40-positive MM...

journal_title：British journal of haematology

authors： Hayashi T,Treon SP,Hideshima T,Tai YT,Akiyama M,Richardson P,Chauhan D,Grewal IS,Anderson KC

更新日期：2003-05-01 00:00:00

abstract：:An indirect immunofluorescence technique with single and double labelling has been used to examine cultured human megakaryocytes for ABH antigens. This technique demonstrated the presence of these antigens on megakaryocytes and a population of small mononuclear cells that probably represent the differentiated precurso...

journal_title：British journal of haematology

authors： Dunstan RA

更新日期：1986-03-01 00:00:00

abstract：:Analogous to T cells, Natural Killer (NK) cells may facilitate engraftment, combat infection, and control cancer in bone marrow or haematopoietic stem cell transplantation (HSCT); however, NK cells do not cause graft-versus-host disease. Killer immunoglobulin-like receptors (KIRs) regulate NK cell function, and recent...

journal_title：British journal of haematology

authors： Leung W

更新日期：2011-10-01 00:00:00