Determination of factor IX allotypes for carrier identification in haemophilia B.

Abstract:

:The existence of two genetic variants (allotypes) of normal human factor IX is used for carrier detection in three families with severe and one with mild haemophilia B. By analysis of IX:Ag with two different monoclonal antibodies in 93 members of the families, allelic assignment is shown to be a complement in carrier diagnosis to genotypic DNA studies. Allelic assignment makes possible a reliable diagnosis based on phenotypic studies, though its usefulness is limited due to ethnic variation in allelic frequency. Determination of factor IX allotypes should be useful for carrier detection in many Swedish families with haemophilia B.

journal_name

Br J Haematol

authors

Wallmark A,Ljung R,Nilsson IM

doi

10.1111/j.1365-2141.1987.tb06164.x

subject

Has Abstract

pub_date

1987-12-01 00:00:00

pages

427-32

issue

4

eissn

0007-1048

issn

1365-2141

journal_volume

67

pub_type

杂志文章
  • Myelodysplastic syndrome (MDS)-associated inhibitory activity on haemopoietic progenitor cells.

    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

    authors: Ohmori M,Ohmori S,Ueda Y,Tohyama K,Yoshida Y,Uchino H

    更新日期:1990-02-01 00:00:00

  • Multiple in silico tools predict phenotypic manifestations in congenital thrombotic thrombocytopenic purpura.

    abstract::Congenital thrombotic thrombocytopenic purpura (cTTP) is a rare, recessively inherited genetic disorder with varying clinical presentation that is caused by ADAMTS13 mutations. Several studies have found limited associations between ADAMTS13 mutations and cTTP phenotype. The use of in silico tools that examine multipl...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/bjh.12214

    authors: Hing ZA,Schiller T,Wu A,Hamasaki-Katagiri N,Struble EB,Russek-Cohen E,Kimchi-Sarfaty C

    更新日期:2013-03-01 00:00:00

  • Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference.

    abstract::Diamond Blackfan anaemia (DBA) is a rare, genetically and clinically heterogeneous, inherited red cell aplasia. Classical DBA affects about seven per million live births and presents during the first year of life. However, as mutated genes have been discovered in DBA, non-classical cases with less distinct phenotypes ...

    journal_title:British journal of haematology

    pub_type: 共识发展会议,杂志文章

    doi:10.1111/j.1365-2141.2008.07269.x

    authors: Vlachos A,Ball S,Dahl N,Alter BP,Sheth S,Ramenghi U,Meerpohl J,Karlsson S,Liu JM,Leblanc T,Paley C,Kang EM,Leder EJ,Atsidaftos E,Shimamura A,Bessler M,Glader B,Lipton JM,Participants of Sixth Annual Daniella Maria Art

    更新日期:2008-09-01 00:00:00

  • The Duffy blood group determinants: their role in the susceptibility of human and animal erythrocytes to Plasmodium knowlesi malaria.

    abstract::Duffy blood group negative erythrocytes from blacks are refractory to invasion by Plasmodium knowlesi merozoites in vitro, and blacks with this genotype are resistant to infection by P. vivax in vivo. In order to evaluate in a direct manner the role of Duffy blood group determinants in invasion by P. knowlesi merozoit...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1977.tb00656.x

    authors: Mason SJ,Miller LH,Shiroishi T,Dvorak JA,McGinniss MH

    更新日期:1977-07-01 00:00:00

  • Proposals for the classification of the acute leukaemias. French-American-British (FAB) co-operative group.

    abstract::A uniform system of classification and nomenclature of the acute leukaemias, at present lacking, should permit more accurate recording of the distribution of cases entered into clinical trials, and could provide a reference standard when newly developed cell-surface markers believed to characterize specific cell types...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1976.tb03563.x

    authors: Bennett JM,Catovsky D,Daniel MT,Flandrin G,Galton DA,Gralnick HR,Sultan C

    更新日期:1976-08-01 00:00:00

  • Allogeneic transplantation for Hodgkin's lymphoma.

    abstract::Hodgkin's lymphoma (HL) can be cured in most of the patients, but in case of refractory disease or relapse after autologous stem cell transplantation (SCT) the prognosis becomes very poor. In these patients a consensus about the standard approach has not been achieved so far and only allogeneic SCT has shown a long-te...

    journal_title:British journal of haematology

    pub_type: 杂志文章,评审

    doi:10.1111/j.1365-2141.2010.08492.x

    authors: Corradini P,Sarina B,Farina L

    更新日期:2011-02-01 00:00:00

  • Endogenous nitric oxide synthase inhibitors in sickle cell disease: abnormal levels and correlations with pulmonary hypertension, desaturation, haemolysis, organ dysfunction and death.

    abstract::Pulmonary hypertension (PH) in patients with sickle cell disease (SCD) is linked to intravascular haemolysis, impaired nitric oxide bioavailability, renal dysfunction, and early mortality. Asymmetric dimethylarginine (ADMA), an endogenous inhibitor of nitric oxide synthases (NOS), is associated with vascular disease i...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.2009.07658.x

    authors: Kato GJ,Wang Z,Machado RF,Blackwelder WC,Taylor JG 6th,Hazen SL

    更新日期:2009-05-01 00:00:00

  • Activation of platelets by platelet activating factor (PAF) derived from IgE-sensitized basophils. IV. PAF does not activate platelet factor 3 (PF3).

    abstract::Platelet activating factor (PAF) derived from antigen-stimulated, IgE-sensitized rabbit basophils acts on platelets to induce aggregation and secretion of their content of granule-bound vasoactive amines. Despite this, PAF did not activate platelet factor 3. In contrast, collagen induced aggregation, secretion and PF3...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1976.tb00197.x

    authors: Henson PM,Landes RR

    更新日期:1976-10-01 00:00:00

  • Effects of r-metHuG-CSF on polymorphonuclear leucocyte kinetics and function in patients on continuous ambulatory peritoneal dialysis.

    abstract::End-stage renal failure (ESRF) patients undergoing continuous ambulatory peritoneal dialysis (CAPD) are immunocompromised and exhibit abnormal circulating polymorphonuclear leucocyte (PMN) function, including reduced phagocytosis and intracellular killing. Six uraemic patients on CAPD were each given 300 microg granul...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2141.1998.01019.x

    authors: Turzanski J,Crouch SP,Andrews M,Rose M,Finch R,Burden R,Holliday M,Fletcher J

    更新日期:1998-11-01 00:00:00

  • X-chromosome inactivation analysis of isolated Reed-Sternberg cells in nodular sclerosing Hodgkin's disease.

    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

    authors: Chang HW,Chong SM,Peh SC,Lee SH

    更新日期:1999-12-01 00:00:00

  • The TEL-AML1 real-time quantitative polymerase chain reaction (PCR) might replace the antigen receptor-based genomic PCR in clinical minimal residual disease studies in children with acute lymphoblastic leukaemia.

    abstract::Prospective studies in children with B-precursor acute lymphoblastic leukaemia (ALL) have shown that polymerase chain reaction (PCR)-based detection of minimal residual disease (MRD) using immunoglobin (Ig) and T-cell receptor (TCR) gene rearrangements as targets can be used to identify patients with a high relapse ri...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2141.2002.03228.x

    authors: de Haas V,Breunis WB,Dee R,Verhagen OJ,Kroes W,van Wering ER,van Dongen JJ,van den Berg H,van der Schoot CE

    更新日期:2002-01-01 00:00:00

  • Similar burden of type 2 diabetes among adult patients with sickle cell disease relative to African Americans in the U.S. population: a six-year population-based cohort analysis.

    abstract::Conflicting evidence exists on the epidemiology of type 2 diabetes mellitus (T2DM) among patients with sickle cell disease (SCD). This study measured the prevalence, incidence and clinical outcomes associated with T2DM in a large US population of commercially-insured adults aged ≥20 years with SCD between 2009 and 201...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/bjh.15773

    authors: Zhou J,Han J,Nutescu EA,Galanter WL,Walton SM,Gordeuk VR,Saraf SL,Calip GS

    更新日期:2019-04-01 00:00:00

  • Complementarity determining region-III is a useful molecular marker for the evaluation of minimal residual disease in mantle cell lymphoma.

    abstract::Bone marrow (BM) and peripheral blood (PB) involvement in 10 patients with mantle cell lymphoma (MCL) was analysed by a polymerase chain reaction (PCR)-mediated RNase protection assay. The complementarity determining regions (CDR)-III of all 10 MCLs examined was amplified efficiently with consensus V(H) and J(H) prime...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2141.1997.2133030.x

    authors: Kurokawa T,Kinoshita T,Murate T,Nagasaka T,Kagami Y,Ogura M,Nakamura S,Seto M,Hotta T,Saito H

    更新日期:1997-08-01 00:00:00

  • Prediction of the haemostatic effects of bypassing therapy using comprehensive coagulation assays in emicizumab prophylaxis-treated haemophilia A patients with inhibitors.

    abstract::In emicizumab prophylaxis, the concomitant therapy using bypassing agents (BPAs) is required for breakthrough bleeding and invasive procedures with attention to thrombotic complications. To predict coagulant effects of BPAs in emicizumab-treated patients with haemophilia A (PwHA) with inhibitor (PwHAwI), blood samples...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/bjh.16574

    authors: Furukawa S,Nogami K,Shimonishi N,Nakajima Y,Matsumoto T,Shima M

    更新日期:2020-09-01 00:00:00

  • Two different quadruplicated alpha globin gene arrangements.

    abstract::The discovery of two different types of alpha globin gene quadruplication is reported. One with the alpha alpha alpha alpha (anti 3.7)/haplotype was present in four members of a Black family from Georgia, while a second with the alpha alpha alpha alpha (anti 4.2)/haplotype was observed in two members of an Indonesian ...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1987.tb01306.x

    authors: Gu YC,Landman H,Huisman TH

    更新日期:1987-06-01 00:00:00

  • MYD88 wild-type Waldenstrom Macroglobulinaemia: differential diagnosis, risk of histological transformation, and overall survival.

    abstract::MYD88 mutations are present in 95% of Waldenstrom Macroglobulinaemia (WM) patients, and support diagnostic discrimination from other IgM-secreting B-cell malignancies. Diagnostic discrimination can be difficult among suspected wild-type MYD88 (MYD88WT ) WM cases. We systematically reviewed the clinical, pathological a...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/bjh.15049

    authors: Treon SP,Gustine J,Xu L,Manning RJ,Tsakmaklis N,Demos M,Meid K,Guerrera ML,Munshi M,Chan G,Chen J,Kofides A,Patterson CJ,Yang G,Liu X,Severns P,Dubeau T,Hunter ZR,Castillo JJ

    更新日期:2018-02-01 00:00:00

  • Use of a biosimilar granulocyte colony-stimulating factor for peripheral blood stem cell mobilization: an analysis of mobilization and engraftment.

    abstract::Peripheral blood haematopoietic progenitor cell mobilization has become a standard procedure prior to autologous stem cell transplantation. Biosimilar granulocyte colony-stimulating factors (GCSF) have recently been awarded European Union (EU) licences for stem cell mobilization but data for their use in this context ...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/bjh.12345

    authors: Publicover A,Richardson DS,Davies A,Hill KS,Hurlock C,Hutchins D,Jenner MW,Johnson PW,Lamb J,Launders H,McKeag N,Newman J,Orchard KH

    更新日期:2013-07-01 00:00:00

  • Impaired microtubule assembly and polymorphonuclear leucocyte function in the Chediak-Higashi syndrome correctable by ascorbic acid.

    abstract::It was previously shown that the abnormal surface characteristics and defective bactericidal function of polymorphonuclear leucocytes (PMN) in the Chediak-Higashi syndrome (CHS) are correlated with impaired microtubule assembly, and in one patient direct electron microscopic evidence for an anomaly in microtubule asse...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1979.tb03743.x

    authors: Boxer LA,Albertini DF,Baehner RL,Oliver JM

    更新日期:1979-10-01 00:00:00

  • Patients with chronic lymphocytic leukaemia and clonal deletion of both 17p13.1 and 11q22.3 have a very poor prognosis.

    abstract::Detection of a 17p13.1 deletion (loss of TP53) or 11q22.3 deletion (loss of ATM), by fluorescence in situ hybridization (FISH), in chronic lymphocytic leukaemia (CLL) patients is associated with a poorer prognosis. Because TP53 and ATM are integral to the TP53 pathway, we hypothesized that 17p13.1- (17p-) and 11q22.3-...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/bjh.12534

    authors: Greipp PT,Smoley SA,Viswanatha DS,Frederick LS,Rabe KG,Sharma RG,Slager SL,Van Dyke DL,Shanafelt TD,Tschumper RC,Zent CS

    更新日期:2013-11-01 00:00:00

  • Activation of class I HLA expression by TNF-alpha and gamma-interferon is mediated through protein kinase C-dependent pathway in CML cell lines.

    abstract::The combination of tumour necrosis factor alpha (TNF alpha) and gamma-interferon induced transcription of class I HLA genes in chronic myelogenous leukaemia (CML) cell lines through the formation of a complex between nuclear proteins and the transcriptional enhancers associated with these genes. Although gamma-interfe...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1991.tb04449.x

    authors: Seong D,Sims S,Johnson E,Lyding J,Lopez A,Garovoy M,Talpaz M,Kantarjian H,Lopez-Berestein G,Reading C

    更新日期:1991-07-01 00:00:00

  • The management and outcome of chronic graft-versus-host disease.

    abstract::Chronic graft-versus-host disease (cGVHD) is a common complication following allogeneic haematopoietic cell transplantation (HCT). It is the leading cause of non-relapse mortality in transplant survivors and has a significant impact upon their functional status and quality of life. Despite significant advances being m...

    journal_title:British journal of haematology

    pub_type: 杂志文章,评审

    doi:10.1111/j.1365-2141.2007.06652.x

    authors: Fraser CJ,Scott Baker K

    更新日期:2007-07-01 00:00:00

  • Clinical significance of serum thymidine kinase in adult T-cell leukaemia and acute myeloid leukaemia.

    abstract::To clarify the clinical and biological significance of serum thymidine kinase (TK) in adult T-cell leukaemia (ATL) associated with human lymphotropic virus type-I (HTLV-I) and in acute myeloid leukaemia (AML), TK was measured in 52 patients with ATL (acute ATL, 35 patients; lymphoma ATL, two patients; chronic ATL, 12 ...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1995.tb03386.x

    authors: Sadamori N,Ichiba M,Mine M,Hakariya S,Hayashibara T,Itoyama T,Nakamura H,Tomonaga M,Hayashi K

    更新日期:1995-05-01 00:00:00

  • Abnormal kinetics of colony formation by erythroid burst-forming units (BFU-E) in chronic myeloid leukaemia.

    abstract::We have investigated the kinetics of colony formation by progenitor cells in chronic myeloid leukaemia (CML) using erythroid burst-forming units (BFU-E) as a model system. For this, we scored the numbers of subcolonies produced by individual BFU-E in cultures of normal marrow and blood cells and in cultures of CML blo...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2141.1996.d01-1738.x

    authors: Marley SB,Lewis JL,Goldman JM,Gordon MY

    更新日期:1996-06-01 00:00:00

  • The role for liver biopsy in haemophiliacs infected with the hepatitis C virus.

    abstract::Assessment of chronic hepatitis C virus infection requires a liver biopsy in most circumstances. There is a reluctance to perform liver biopsy in haemophiliacs because of a perceived risk of haemorrhage, although with adequate factor concentrate replacement in patients without factor concentrate inhibitors it should b...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2141.1997.452691.x

    authors: Wong VS,Baglin T,Beacham E,Wight DD,Petrik J,Alexander GJ

    更新日期:1997-05-01 00:00:00

  • Fluctuating deformability of oxygenated sickle erythrocytes in the asymptomatic state and in painful crisis.

    abstract::A new gravity filtration technique for the study of sickle cell deformability has shown a significant loss of filterability of oxygenated erythrocytes on day 2 of painful crisis in eight patients with homozygous sickle cell anaemia; there was no increase in irreversibly sickled cell (ISC) count. Serial study (mean of ...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1985.tb03001.x

    authors: Lucas GS,Caldwell NM,Stuart J

    更新日期:1985-02-01 00:00:00

  • Th1 and Th2 cytokines in a patient with Evans' syndrome and profound lymphopenia.

    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

    pub_type: 杂志文章

    doi:10.1046/j.1365-2141.2000.02296.x

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

    更新日期:2000-09-01 00:00:00

  • The regulation of iron release from the perfused rat liver.

    abstract::Factors affecting iron efflux from the isolated perfused rat liver were studied following the intravenous administration of transferrin-(59)Fe or transferrin-(55)Fe administered to the rat from 1.5 h to 3.5 d before perfusion of the liver. The liver was perfused with rat red cells suspended either in rat plasma or Eag...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1980.tb07184.x

    authors: Baker E,Morton AG,Tavill AS

    更新日期:1980-08-01 00:00:00

  • Homozygosity for dominant form of hereditary spherocytosis.

    abstract::A 6-month-old male infant with hereditary spherocytosis (HS) who was the first child of a cousin marriage is presented. The patient had splenomegaly and severe anaemia. Examination of the peripheral blood smear revealed spherocytes and the osmotic fragility of red blood cells was greatly increased. Physical examinatio...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1992.tb06473.x

    authors: Duru F,Gürgey A,Oztürk G,Yörükan S,Altay C

    更新日期:1992-11-01 00:00:00

  • Long-term overall- and progression-free survival after pentostatin, cyclophosphamide and rituximab therapy for indolent non-Hodgkin lymphoma.

    abstract::In a prospective phase II trial, pentostatin combined with cyclophosphamide and rituximab (PCR) induced strong responses and was well-tolerated in previously untreated patients with advanced-stage, indolent non-Hodgkin lymphoma (iNHL). After a median patient follow-up of more than 108 months, we performed an intent-to...

    journal_title:British journal of haematology

    pub_type: 杂志文章,随机对照试验

    doi:10.1111/bjh.15814

    authors: Khashab T,Hagemeister F,Romaguera JE,Fanale MA,Pro B,McLaughlin P,Rodriguez MA,Neelapu SS,Fayad L,Younes A,Feng L,Vega F,Kwak LW,Samaniego F

    更新日期:2019-05-01 00:00:00

  • Low-dose aspirin does not lower in vivo platelet activation in healthy smokers.

    abstract::Smoking causes atherosclerosis, and smokers have increased thromboxane (TXA2) formation. As aspirin inhibits TXA2 production we speculated that smokers would preferentially profit from inhibition of the TXA2 pathway by aspirin. Increased expression of P-selectin, a constituent of the alpha-granules of platelets, and i...

    journal_title:British journal of haematology

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1046/j.1365-2141.1998.00883.x

    authors: Pernerstorfer T,Stohlawetz P,Stummvoll G,Kapiotis S,Szekeres T,Eichler HG,Jilma B

    更新日期:1998-09-01 00:00:00