Interaction of alpha and beta thalassaemia genes in two Sardinian families.

abstract：:The EPB3 gene encodes band 3 (anion exchanger 1) of the red cell membrane. A subset of hereditary spherocytosis (HS) is associated with EPB3 gene mutations and band 3 deficiency. We report a large Italian family in which 10 of the 27 members investigated displayed an autosomal dominant HS. SDS-PAGE revealed a reductio...

journal_title：British journal of haematology

authors： Bianchi P,Zanella A,Alloisio N,Barosi G,Bredi E,Pelissero G,Zappa M,Vercellati C,Baronciani L,Delaunay J,Sirchia G

更新日期：1997-08-01 00:00:00

abstract：:The spleen acts as a blood filter and lymphopoietic organ. Asplenic and hyposplenic individuals are more susceptible to serious infections caused by encapsulated bacteria but they can be protected by antibiotic prophylaxis and immunizations. Recent progress in vaccinology means prophylaxis is now successful in the vas...

journal_title：British journal of haematology

authors： Kuchar E,Miśkiewicz K,Karlikowska M

更新日期：2015-12-01 00:00:00

abstract：:A Children's Oncology Group clinical trial aimed to determine if bortezomib (B) increased the efficacy of ifosfamide and vinorelbine (IV) in paediatric Hodgkin lymphoma (HL). This study enrolled 26 relapsed HL patients (<30 years) treated with two to four cycles of IVB. The primary endpoint was anatomic complete respo...

journal_title：British journal of haematology

authors： Horton TM,Drachtman RA,Chen L,Cole PD,McCarten K,Voss S,Guillerman RP,Buxton A,Howard SC,Hogan SM,Sheehan AM,López-Terrada D,Mrazek MD,Agrawal N,Wu MF,Liu H,De Alarcon PA,Trippet TM,Schwartz CL

更新日期：2015-07-01 00:00:00

abstract：:The uptake of iron by bone marrow erythroblasts and its intracellular distribution have been studied in 23 patients with primary sideroblastic anaemia (SA), five patients with secondary SA and one patient with only non-ringed sideroblasts. EM of erythroblasts from 18 cases showed both mitochondrial iron deposits and c...

journal_title：British journal of haematology

authors： May A,de Souza P,Barnes K,Kaaba S,Jacobs A

更新日期：1982-12-01 00:00:00

abstract：:An examination of HLA antigens in 72 unrelated Caucasian subjects with pernicious anaemia (PA) has revealed no significant association of any HLA-A or B genes with the disease. These data do not confirm the previous reports in the literature which had suggested an increased frequency of the B7 and/or A3 antigen among ...

journal_title：British journal of haematology

authors： Wright JP,Callender ST,Grumet FC,Payne RO,Taylor KB

更新日期：1977-05-01 00:00:00

abstract：:A rapid, non-radioactive, PCR-based method to genotype the XbaI restriction fragment length polymorphism of the human factor VIII gene is described. The method uses long-distance PCR followed by XbaI restriction digestion and agarose gel electrophoresis. The 6.6 kb amplification product includes a constant XbaI site, ...

journal_title：British journal of haematology

authors： De Brasi CD,Bowen DJ,Collins PW,Larripa IB

更新日期：1999-12-01 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

authors： Takeuchi R,Atsumi T,Ieko M,Amasaki Y,Ichikawa K,Koike T

更新日期：2002-12-01 00:00:00

abstract：:We report a Lancashire family with mild haemophilia B associated with a -6 G to A mutation in the factor IX promoter. This mutation has been reported previously in Britain in one other affected family. The factor IX haplotype of these two unrelated patients was determined by PCR analysis of seven polymorphic sites wit...

journal_title：British journal of haematology

authors： Stowell KM,Figueiredo MS,Brownlee GG,Jones P,Bolton-Maggs PH

更新日期：1993-09-01 00:00:00

abstract：:We examined the effect of vitamin D receptor (VDR) polymorphisms at exon 2 (FokI) and intron 8 (BsmI) on the stature and bone mineral density at femoral neck (FBMD) and lumbar spine (LBMD) in 108 prepubertal and pubertal homozygous beta thalassaemic patients, regularly treated. We found significantly shorter stature a...

journal_title：British journal of haematology

authors： Ferrara M,Matarese SM,Francese M,Borrelli B,Coppola A,Coppola L,Esposito L

更新日期：2002-05-01 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

authors： Bierling P,Cordonnier C,Fromont P,Rodet M,Tanzer J,Vernant JP,Bracq C,Duedari N

更新日期：1985-04-01 00:00:00

abstract：:Minimal residual disease (MRD) assessment is a powerful prognostic factor for determining the risk of relapse in childhood acute lymphoblastic leukaemia (ALL). In this Swedish multi-centre study of childhood ALL diagnosed between 2002 and 2006, the MRD levels were analysed in 726 follow-up samples in 228 children usin...

journal_title：British journal of haematology

authors： Thörn I,Forestier E,Botling J,Thuresson B,Wasslavik C,Björklund E,Li A,Lindström-Eriksson E,Malec M,Grönlund E,Torikka K,Heldrup J,Abrahamsson J,Behrendtz M,Söderhäll S,Jacobsson S,Olofsson T,Porwit A,Lönnerholm G,R

更新日期：2011-03-01 00:00:00

abstract：:Patients with multiple myeloma (MM) undergoing high dose therapy and autologous stem cell transplantation (SCT) remain at risk for disease progression. Induction of the expression of highly immunogenic cancer testis antigens (CTA) in malignant plasma cells in MM patients may trigger a protective immune response follow...

journal_title：British journal of haematology

authors： Toor AA,Payne KK,Chung HM,Sabo RT,Hazlett AF,Kmieciak M,Sanford K,Williams DC,Clark WB,Roberts CH,McCarty JM,Manjili MH

更新日期：2012-09-01 00:00:00

abstract：:The feasibility of DNA diagnosis for haemophilia A was tested in South African patients and families by screening for the common inversion mutation in the factor VIII gene and for the intragenic microsatellite markers in introns 13 and 22. The allele frequencies at the two microsatellite loci were significantly differ...

journal_title：British journal of haematology

authors： Dangerfield BT,Manga P,Field SP,Hartman E,Jenkins T,Krause A

更新日期：1997-06-01 00:00:00

abstract：:Measurements were made of levels of D-dimer in plasma and serum, thrombin-antithrombin complex (TAT) in plasma and fibrinogen/fibrin fragment E antigen (FgE) in serum in a normal healthy control group and in patients with a range of disorders associated with hypercoagulability. Levels were determined in 31 normal heal...

journal_title：British journal of haematology

authors： Boisclair MD,Lane DA,Wilde JT,Ireland H,Preston FE,Ofosu FA

更新日期：1990-04-01 00:00:00

abstract：:Platelets from patients with platelet-type von Willebrand disease (vWD) were used as immunogens for the production of murine monoclonal antibodies (MoAbs). One such MoAb, C-34, inhibited ristocetin-induced aggregation of patient or normal platelets, but not aggregation induced by other aggregating agents. As demonstra...

journal_title：British journal of haematology

authors： Miller JL,Hustad KO,Kupinski JM,Lyle VA,Kunicki TJ

更新日期：1990-03-01 00:00:00

abstract：:Two single-nucleotide substitutions in PKLR constituted the molecular basis underlying pyruvate kinase (PK) deficiency in a patient with severe haemolytic anaemia. One novel mutation, IVS5+1G>A, abolished the intron 5 donor splice site. The other mutation, c.1436G>A, altered the intron 10 donor splice site consensus s...

journal_title：British journal of haematology

authors： Wijk R,van Wesel AC,Thomas AA,Rijksen G,van Solinge WW

更新日期：2004-04-01 00:00:00

abstract：:Deregulated Hedgehog (Hh) signalling activity may be associated with a broad range of cancer types and hence has become an attractive target for therapeutic intervention. Although initial haematological interest focused on the therapeutic targeting of this pathway in chronic myeloid leukaemia), small molecule inhibito...

journal_title：British journal of haematology

authors： Khan AA,Harrison CN,McLornan DP

更新日期：2015-08-01 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：:Limited therapies exist for patients with refractory and relapsed (RR) higher-risk myelodysplastic syndromes (HR-MDS) and acute myeloid leukaemia with trilineage dysplasia (AML-TD). High dose (HD) lenalidomide (50 mg) has activity as frontline therapy in elderly AML but there is limited data in the RR setting. This ph...

journal_title：British journal of haematology

authors： Zeidan AM,Smith BD,Carraway HE,Gojo I,DeZern A,Gore SD

更新日期：2017-01-01 00:00:00

abstract：:Marginal zone lymphoma represents about 10% of all non-Hodgkin lymphomas (NHLs). 33% of patients with acquired angioedema (AAE) due to acquired C1-inhibitor (C1-INH) deficiency (C1-INH-AAE) have or will develop NHLs. C1-INH-AAE is a rare condition. We report the follow-up of 72 C1-INH-AAE patients, followed for a medi...

journal_title：British journal of haematology

authors： Castelli R,Wu MA,Arquati M,Zanichelli A,Suffritti C,Rossi D,Cicardi M

更新日期：2016-03-01 00:00:00

abstract：:This retrospective analysis was conducted in 64 patients diagnosed with type I cryoglobulinaemia (CG) followed at two French centres. Median follow-up was 6·75 years. CG was IgG in 60% and IgM in 40% of all cases and was asymptomatic in 16 patients (25%). Cold-triggered ischaemic skin manifestations were observed in 3...

journal_title：British journal of haematology

authors： Harel S,Mohr M,Jahn I,Aucouturier F,Galicier L,Asli B,Malphettes M,Szalat R,Brouet JC,Lipsker D,Fermand JP

更新日期：2015-03-01 00:00:00

abstract：:Monocytes, lymphocytes and polymorphs were separated from the peripheral blood of normal human subjects. Ferritin concentrations were determined with antibodies to both human spleen and heart ferritins. The heart type ferritin concentration in monocytes was 38.4 +/- 21.6 fg/cell (mean +/- SD), in lymphocytes 8.6 +/- 6...

journal_title：British journal of haematology

authors： Jones BM,Worwood M,Jacobs A

更新日期：1983-09-01 00:00:00

abstract：:We describe the characterization of a novel 7.9 kb deletion that eliminated one of the duplicated alpha-globin genes, causing an alpha+-thalassaemia phenotype in two independent carriers of Suriname-Indian origin. The molecular characterization of the deletion breakpoint fragment revealed neither involvement of Alu re...

journal_title：British journal of haematology

authors： Harteveld CL,van Delft P,Wijermans PW,Kappers-Klunne MC,Weegenaar J,Losekoot M,Giordano PC

更新日期：2003-01-01 00:00:00

abstract：:To investigate the role of neutrophils in complement-induced changes in vascular permeability, skin wheal and flare responses to intradermal injection of autologous activated serum complement were measured in normal and neutropenic subjects. In normal subjects, responses were dose-dependent and were abolished by remov...

journal_title：British journal of haematology

authors： Williamson LM,Sheppard K,Davies JM,Fletcher J

更新日期：1986-10-01 00:00:00

abstract：:A 41-year-old woman was admitted with fever, splenomegaly and pancytopenia. High serum ferritin, hypertriglyceridaemia and bone marrow haemophagocytosis were consistent with a haemophagocytic syndrome. Trophozoites and gametocytes of Plasmodium vivax were identified on blood smear. Rapid recovery was observed after tr...

journal_title：British journal of haematology

authors： Aouba A,Noguera ME,Clauvel JP,Quint L

更新日期：2000-03-01 00:00:00

abstract：:Hepatitis E virus (HEV) is increasingly found to cause hepatitis in allogeneic haematopoietic stem cell transplantation (HSCT) patients. However, little is known about HEV infection in patients receiving haploidentical HSCT (haplo-HSCT). Here, we retrospectively evaluate the incidence and clinical course of HEV infect...

journal_title：British journal of haematology

authors： Tang FF,Mo XD,Wang Y,Yan CH,Chen YH,Chen H,Han W,Chang YJ,Zhang HY,Xie YD,Ma H,Wei L,Xu LP,Huang XJ,Zhang XH

更新日期：2019-03-01 00:00:00

abstract：:Until recently, primary central nervous system lymphoma (PCNSL) was associated with a uniformly dismal prognosis. It is now reasonable to anticipate long-term survival and possibly cure for a significant proportion of patients diagnosed with PCNSL. Accumulated data generated over the past 10 years has provided evidenc...

journal_title：British journal of haematology

authors： Wang CC,Carnevale J,Rubenstein JL

更新日期：2014-08-01 00:00:00

abstract：:Platelet-derived growth factor (PDGF) is thought to play some role in the genesis of fibrosis associated with myeloproliferative disorders. In addition, transforming growth factor-beta (TGF-beta) has been confirmed to promote fibrotic process. Both PDGF and TGF-beta have been shown to cooperate with epidermal growth f...

journal_title：British journal of haematology

authors： Martyré MC,Magdelenat H,Bryckaert MC,Laine-Bidron C,Calvo F

更新日期：1991-01-01 00:00:00

abstract：:Site-specific deletions of the 5' part of the TAL1 gene (tal(d)) are among the most frequent non-random genetic abnormalities in T-cell acute lymphoblastic leukaemia (T-ALL). They are usually detected by PCR from DNA with several primer pairs or by Southern blot analysis. Since tal(d) lead to expression of a SIL-TAL1 ...

journal_title：British journal of haematology

authors： Delabesse E,Bernard M,Landman-Parker J,Davi F,Leboeuf D,Varet B,Valensi F,Macintyre EA

更新日期：1997-12-01 00:00:00

abstract：:Human megakaryocytes have been isolated from marrow obtained from ribs removed at thoracotomy. All but one of the patients had normal pre-operative platelet and leucocyte counts. Megakaryocytes averaged 0.37% of all cells in marrow cell suspensions from nine consecutive subjects. A 283-fold purification (to 10.3%) was...

journal_title：British journal of haematology

authors： Levine RF

更新日期：1980-07-01 00:00:00