Comparison of haematological features of the beta0 and beta+ thalassaemia traits in Jamaican Negroes.

Abstract:

:Haematological characteristics have been compared in 29 subjects with heterozygous beta0 thalassaemia and in 33 subjects with heterozygous beta+ thalassaemia, identified by the type of sickle cell-beta thalassaemia among close relatives, in a Jamaican Negro population. Total haemoglobin, MCV and MCH were significantly lower in the beta0 type but the level of Hb A2 was not significantly different. Individual values for MCV, MCH and Hb A2 in the beta+ type occasionally overlapped those in the normal population casting doubt on the adequacy of these criteria in identifying all cases of heterozygous beta+ thalassaemia. The haematological differences are those which would be expected on theoretical grounds. The inability to confidently differentiate the two types of heterozygous beta thalassaemia has implications for genetic counselling. The inability to distinguish heterozygous beta+ thalassaemia from normals on any single haematological index suggests that surveys depending on estimations of Hb A2 or on MCV alone may have underestimated the prevalence of the beta+ thalassaemia gene.

journal_name

Br J Haematol

authors

Millard DP,Mason K,Serjeant BE,Serjeant GR

doi

10.1111/j.1365-2141.1977.tb00636.x

subject

Has Abstract

pub_date

1977-06-01 00:00:00

pages

161-70

issue

2

eissn

0007-1048

issn

1365-2141

journal_volume

36

pub_type

杂志文章
  • Histopathology, cell proliferation indices and clinical outcome in 304 patients with mantle cell lymphoma (MCL): a clinicopathological study from the European MCL Network.

    abstract::Mantle cell lymphoma (MCL) is a distinct lymphoma subtype with a particularly poor clinical outcome. The clinical relevance of the morphological characteristics of these tumours remains uncertain. The European MCL Network reviewed 304 cases of MCL to determine the prognostic significance of histopathological character...

    journal_title:British journal of haematology

    pub_type: 杂志文章,多中心研究

    doi:10.1111/j.1365-2141.2005.05716.x

    authors: Tiemann M,Schrader C,Klapper W,Dreyling MH,Campo E,Norton A,Berger F,Kluin P,Ott G,Pileri S,Pedrinis E,Feller AC,Merz H,Janssen D,Hansmann ML,Krieken H,Möller P,Stein H,Unterhalt M,Hiddemann W,Parwaresch R,Europ

    更新日期:2005-10-01 00:00:00

  • Acquired von Willebrand's disease due to aberrant expression of platelet glycoprotein Ib by marginal zone lymphoma cells.

    abstract::A 69-year-old woman presented with splenic marginal zone lymphoma associated with acquired von Willebrand's disease (AVWD). Laboratory abnormalities included markedly decreased plasma levels of factor VIII coagulant (C) activity (VIII:C 28%), von Willebrand's factor (VWF) antigen (Ag) (vWF:Ag < 6%), and VWF ristocetin...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2141.1997.d01-2088.x

    authors: Tefferi A,Hanson CA,Kurtin PJ,Katzmann JA,Dalton RJ,Nichols WL

    更新日期:1997-03-01 00:00:00

  • A randomized, open-label, phase I/II trial to investigate the maximum tolerated dose of the Polo-like kinase inhibitor BI 2536 in elderly patients with refractory/relapsed acute myeloid leukaemia.

    abstract::Polo-like kinases (Plks) play an important role in cell cycle checkpoint controls and are over-expressed in acute myeloid leukaemia (AML). BI 2536, a novel Plk inhibitor, induces mitotic arrest and apoptosis. In this phase I/II trial of BI 2536 in 68 elderly patients with relapsed/refractory AML, three schedules were ...

    journal_title:British journal of haematology

    pub_type: 杂志文章,多中心研究,随机对照试验

    doi:10.1111/bjh.12518

    authors: Müller-Tidow C,Bug G,Lübbert M,Krämer A,Krauter J,Valent P,Nachbaur D,Berdel WE,Ottmann OG,Fritsch H,Munzert G,Garin-Chesa P,Fleischer F,Taube T,Döhner H

    更新日期:2013-10-01 00:00:00

  • Five leucocyte labelling techniques: a comparative in-vitro study.

    abstract::During the past years, several authors have used labelled leucocytes to detect inflammatory foci. However, before routine use in man. It is necessary to control the viability of labelled cells. Five leucocyte labelling techniques (111In-oxine, 111In-oxine without extraction, 99mTc oxine, pyrophosphate 99mTc, 51Cr) wer...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1983.tb01983.x

    authors: Colas-Linhart N,Barbu M,Gougerot MA,Bok B

    更新日期:1983-01-01 00:00:00

  • Neutrophil myeloperoxidase activity and the influence of two single-nucleotide promoter polymorphisms.

    abstract::Myeloperoxidase (MPO) catalyses the formation of hypochlorous acid and is involved in many (patho)physiological processes. The present study was designed to determine the effect of two MPO promoter polymorphisms (463G/A and 129G/A) on enzyme activity. In 243 healthy controls, genotypes were determined and MPO activity...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2141.2003.04602.x

    authors: Rutgers A,Heeringa P,Giesen JE,Theunissen RT,Jacobs H,Tervaert JW

    更新日期:2003-11-01 00:00:00

  • Enemy of the (immunosuppressed) state: an update on the pathogenesis of Aspergillus fumigatus infection.

    abstract::Aspergillus fumigatus is an opportunistic filamentous fungus that is currently the most frequent cause of invasive fungal disease in immunosuppressed individuals. Recent advances in our understanding of the pathogenesis of invasive aspergillosis have highlighted the multifactorial nature of A. fumigatus virulence and ...

    journal_title:British journal of haematology

    pub_type: 杂志文章,评审

    doi:10.1111/j.1365-2141.2010.08283.x

    authors: Ben-Ami R,Lewis RE,Kontoyiannis DP

    更新日期:2010-08-01 00:00:00

  • Inhibition of platelet function with 2,3-dihydroxybenzoic acid.

    abstract::2,3-Dihydroxybenzoic acid (2,3-DHB) inhibits the second wave of platelet aggregation release of serotonin, and malonaldehyde production. The effect is concentration dependent and reversible in vitro and in vivo. 50% inhibition of platelet aggregation induced in vitro with 70 micron adrenaline was obtained with 1.5 mM ...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1977.tb01030.x

    authors: Greenberg M,Grady RW,Peterson CM

    更新日期:1977-12-01 00:00:00

  • Marked erythropoietin increase before fall in Hb after treatment with cytostatic drugs suggests mechanism other than anaemia for stimulation.

    abstract::Serum erythropoietin (Epo) was measured in 23 patients before, during and after intensive cytostatic treatment courses for acute leukaemia or before bone marrow transplantation. A marked increase was seen in all patients, starting 1 or 2 d after initiation of treatment. A peak was reached after about 7 d, at levels as...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1989.tb07733.x

    authors: Birgegård G,Wide L,Simonsson B

    更新日期:1989-07-01 00:00:00

  • RUNX1 gene mutation in primary myelodysplastic syndrome--the mutation can be detected early at diagnosis or acquired during disease progression and is associated with poor outcome.

    abstract::Mutations of Runt-related transcription factor 1 (RUNX1) have been detected in patients with myelodysplastic syndrome (MDS). However, the prognostic implication of RUNX1 mutations in primary MDS is limited. The stage of the disease at which the mutations are acquired and whether they persist during the disease course ...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.2007.06811.x

    authors: Chen CY,Lin LI,Tang JL,Ko BS,Tsay W,Chou WC,Yao M,Wu SJ,Tseng MH,Tien HF

    更新日期:2007-11-01 00:00:00

  • Lymphoid subsets and prognostic factors in multiple myeloma. Cooperative Group for the Study of Monoclonal Gammopathies.

    abstract::In a uniform series of 170 untreated myeloma patients (MM) we investigated the distribution of T cell subsets in peripheral blood (PB) and their relationship with the most relevant disease characteristics, including survival. CD4 cells were significantly decreased both in percentage and absolute numbers (P less than 0...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1992.tb08137.x

    authors: San Miguel JF,González M,Gascón A,Moro MJ,Hernández JM,Ortega F,Jiménez R,Guerras L,Romero M,Casanova F

    更新日期:1992-03-01 00:00:00

  • Genetic susceptibility, smoking, obesity and risk of venous thromboembolism.

    abstract::The F5 G1691A (Factor V Leiden) and F2 G20210A (prothrombin) mutations are linked to an increase in the incidence rate of venous thromboembolism (VTE), but their effects are highly variable. We investigated whether the effects of smoking and obesity might explain this variability. In a case-cohort study including the ...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.2010.08086.x

    authors: Severinsen MT,Overvad K,Johnsen SP,Dethlefsen C,Madsen PH,Tjønneland A,Kristensen SR

    更新日期:2010-04-01 00:00:00

  • Sequential mutational evaluation of CALR -mutated myeloproliferative neoplasms with thrombocytosis reveals an association between CALR allele burden evolution and disease progression.

    abstract::In myeloproliferative neoplasms (MPN), JAK2V617F allele burden measurement has an impact on prognosis that helps in patient monitoring. Less is known about its usefulness in CALR-mutated cases. Additional mutations found by next-generation sequencing have also shown an impact on prognosis that may drive therapeutic ch...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/bjh.16276

    authors: Cottin L,Riou J,Orvain C,Ianotto JC,Boyer F,Renard M,Truchan-Graczyk M,Murati A,Jouanneau-Courville R,Allangba O,Mansier O,Burroni B,Rousselet MC,Quintin-Roué I,Martin A,Sadot-Lebouvier S,Delneste Y,Chrétien JM,Hunaul

    更新日期:2020-03-01 00:00:00

  • The use of direct oral anticoagulants in chronic kidney disease.

    abstract::Increasing use of direct oral anticoagulants (DOACs) has made management of non-valvular atrial fibrillation and venous thromboembolism easier in most patients. But the presence of co-existing renal impairment could render the use of DOACs problematic because all of these drugs have varying degrees of renal excretion....

    journal_title:British journal of haematology

    pub_type: 杂志文章,评审

    doi:10.1111/bjh.15564

    authors: Parker K,Thachil J

    更新日期:2018-10-01 00:00:00

  • Inactivation of the retinoblastoma gene in acute myelogenous leukaemia.

    abstract::To investigate the role of retinoblastoma susceptibility (RB) gene inactivation in leukaemogenesis, we evaluated 36 bone marrow specimens of acute leukaemia for RB protein expression by immunoprecipitation and Western blot analysis. 15 patients had no detectable RB protein at initial screening. However, nine of them w...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1992.tb06459.x

    authors: Tang JL,Yeh SH,Chen PJ,Lin MT,Tien HF,Chen YC

    更新日期:1992-11-01 00:00:00

  • Location, movement and survival: the role of chemokines in haematopoiesis and malignancy.

    abstract::Chemokines are a family of over 40 small (8 kDa) related proteins with the function of moving cells along a chemotactic gradient, either to organise cells within an organ or to facilitate the movement of leucocytes around the body. Mouse models have implicated the importance of the chemokine CXCL12 in haematopoiesis a...

    journal_title:British journal of haematology

    pub_type: 杂志文章,评审

    doi:10.1111/j.1365-2141.2005.05841.x

    authors: Laurence AD

    更新日期:2006-02-01 00:00:00

  • Large granular lymphocytic leukaemia after solid organ and haematopoietic stem cell transplantation.

    abstract::T-cell large granular lymphocytic leukaemia (T-LGLL) is a chronic clonal lymphoproliferative disorder of cytotoxic T lymphocytes which commonly occurs in older patients and is often associated with autoimmune diseases. Among 246 patients with T-LGLL seen at our institution over the last 10 years, we encountered 15 cas...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/bjh.16336

    authors: Awada H,Mahfouz RZ,Durrani J,Kishtagari A,Jagadeesh D,Lichtin AE,Hill BT,Hamilton BK,Carraway HE,Nazha A,Majhail NS,Sobecks R,Visconte V,Kalaycio M,Sekeres MA,Maciejewski JP

    更新日期:2020-04-01 00:00:00

  • Intravenous busulphan for conditioning before autologous or allogeneic human blood stem cell transplantation.

    abstract::This study was undertaken to evaluate the toxicity and pharmacokinetics of a dimethyl sulphoxide (DMSO)-based intravenous formulation of busulphan in the conditioning of 45 patients undergoing allogeneic or autologous stem cell transplantation (SCT). Busulphan was given as a single daily dose. In 15 patients a single ...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2141.2001.03044.x

    authors: Schuler US,Renner UD,Kroschinsky F,Johne C,Jenke A,Naumann R,Bornhäuser M,Deeg HJ,Ehninger G

    更新日期:2001-09-01 00:00:00

  • Clinical activity of carfilzomib correlates with inhibition of multiple proteasome subunits: application of a novel pharmacodynamic assay.

    abstract::While proteasome inhibition is a validated therapeutic approach for multiple myeloma (MM), inhibition of individual constitutive proteasome (c20S) and immunoproteasome (i20S) subunits has not been fully explored owing to a lack of effective tools. We utilized the novel proteasome constitutive/immunoproteasome subunit ...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/bjh.14014

    authors: Lee SJ,Levitsky K,Parlati F,Bennett MK,Arastu-Kapur S,Kellerman L,Woo TF,Wong AF,Papadopoulos KP,Niesvizky R,Badros AZ,Vij R,Jagannath S,Siegel D,Wang M,Ahmann GJ,Kirk CJ

    更新日期:2016-06-01 00:00:00

  • Differential regulation of platelet aggregation and aminophospholipid exposure by calpain.

    abstract::Aggregation, exposure of procoagulant phospholipids and shedding of microparticles are platelet responses that depend on activating conditions. To determine how these different responses are interconnected, we simultaneously measured fibrinogen (Fg) binding and aminophospholipid exposure on activated platelets by mean...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.2006.06031.x

    authors: Bachelot-Loza C,Badol P,Brohard-Bohn B,Fraiz N,Cano E,Rendu F

    更新日期:2006-05-01 00:00:00

  • Dissociation between fibrinogen and fibrin interaction with platelets in patients with different subtypes of Glanzmann's thrombasthenia: studies in an ex vivo perfusion chamber model.

    abstract::To explore the possible role of a residual or variant alphaIIbbeta3 integrin (alphaIIbbeta3) in thrombogenesis, we used a new ex vivo perfusion chamber model to examine blood from patients with different subtypes of Glanzmann's thrombasthenia (GT). Non-anticoagulated blood was perfused through capillaries coated with ...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2141.2002.03966.x

    authors: Hainaud P,Brouland JP,André P,Simoneau G,Bal Dit Sollier C,Drouet L,Caen J,Bellucci S

    更新日期:2002-12-01 00:00:00

  • The patterns of fetal haemoglobin production in leukaemia.

    abstract::Elevated levels of haemoglobin F (Hb F) have been foudn in a wide range of haematological malignancies, but very high levels were found only in juvenile chronic myeloid leukaemia (JCML), and erythroleukaemia occurring in infancy. In both these disorders a reversion to a fetal form of erythropoiesis may occur, as judge...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1976.tb00952.x

    authors: Sheridan BL,Weatherall DJ,Clegg JB,Pritchard J,Wood WG,Callender ST,Durrant IJ,McWhirter WR,Ali M,Partridge JW,Thompson EN

    更新日期:1976-04-01 00:00:00

  • Effect of repeated apotransferrin administrations on serum iron parameters in patients undergoing myeloablative conditioning and allogeneic stem cell transplantation.

    abstract::Myeloablative conditioning prior to allogeneic stem cell transplantation causes a rapid increase in transferrin saturation and potentially toxic non-transferrin-bound iron (NTBI) in plasma. We have studied the ability of repeatedly administered apotransferrin to maintain this iron in a transferrin-bound form. Twenty a...

    journal_title:British journal of haematology

    pub_type: 临床试验,杂志文章

    doi:10.1111/j.1365-2141.2006.06273.x

    authors: Parkkinen J,Sahlstedt L,von Bonsdorff L,Salo H,Ebeling F,Ruutu T

    更新日期:2006-10-01 00:00:00

  • Isolation and culture of endothelial cells from human bone marrow.

    abstract::Adhesive interactions between haemopoietic progenitor cells and bone marrow sinusoidal endothelium are potentially important in the homing of these cells back to the extravascular compartment of the marrow to re-establish haemopoiesis following stem cell transplantation. A simple method for the isolation and culture o...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1994.tb05128.x

    authors: Masek LC,Sweetenham JW

    更新日期:1994-12-01 00:00:00

  • Cytomegalovirus infection and non-neutropenic fever after autologous stem cell transplantation: high rates of reactivation in patients with multiple myeloma and lymphoma.

    abstract::In a retrospective study, we examined the association between cytomegalovirus (CMV) infection and non-neutropenic fever immediately following autologous peripheral blood stem cell transplantation for a variety of haematological malignancies and solid tumours. Sixty non-neutropenic febrile episodes (41 in CMV-seroposit...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2141.2001.02487.x

    authors: Fassas AB,Bolaños-Meade J,Buddharaju LN,Rapoport A,Cottler-Fox M,Chen T,Lovchik JC,Cross A,Tricot G

    更新日期:2001-01-01 00:00:00

  • How to manage invasive procedures in children with haemophilia.

    abstract::Invasive procedures can be performed safely in children with haemophilia due to the availability of factor VIII/IX for patients without inhibitors. Most guidelines are based on the experiences in adults, but still there is no established consensus on the optimal factor levels or duration of replacement therapy for adu...

    journal_title:British journal of haematology

    pub_type: 杂志文章,评审

    doi:10.1111/j.1365-2141.2012.09089.x

    authors: Ljung RC,Knobe K

    更新日期:2012-06-01 00:00:00

  • The mixed epidermal cell lymphocyte-reaction is the most predictive factor of acute graft-versus-host disease in bone marrow graft recipients.

    abstract::Risk factors for acute graft-versus-host disease (GvHD) remain controversial. We performed uni- and multivariate statistical analyses on a series of 37 patients receiving a non-depleted allogeneic bone marrow transplant from an HLA-identical sibling donor for a haematological malignancy, in order to identify risk fact...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1988.tb02508.x

    authors: Bagot M,Mary JY,Heslan M,Kuentz M,Cordonnier C,Vernant JP,Dubertret L,Levy JP

    更新日期:1988-12-01 00:00:00

  • Bone resorption is increased in young adults with thalassaemia major.

    abstract::Bone disease in patients with thalassaemia major is a multifactorial and still poorly understood process. The present study evaluated 45 thalassaemic patients using dual X-ray absorptiometry at three sites (lumbar spine, head of femur and forearm) to assess bone mineral density, in parallel with a series of biochemica...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2141.2001.02549.x

    authors: Voskaridou E,Kyrtsonis MC,Terpos E,Skordili M,Theodoropoulos I,Bergele A,Diamanti E,Kalovidouris A,Loutradi A,Loukopoulos D

    更新日期:2001-01-01 00:00:00

  • ELANE mutant-specific activation of different UPR pathways in congenital neutropenia.

    abstract::A number of studies have demonstrated induction of the unfolded protein response (UPR) in patients with severe congenital neutropenia (CN) harbouring mutations of ELANE, encoding neutrophil elastase. Why UPR is not activated in patients with cyclic neutropenia (CyN) carrying the same ELANE mutations is unclear. We eva...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/bjh.13823

    authors: Nustede R,Klimiankou M,Klimenkova O,Kuznetsova I,Zeidler C,Welte K,Skokowa J

    更新日期:2016-01-01 00:00:00

  • Scanning mutations of the 5'UTR regulatory sequence of L-ferritin by denaturing high-performance liquid chromatography: identification of new mutations.

    abstract::Hereditary hyperferritinaemia cataract syndrome is an autosomal dominant disorder caused by heterogeneous mutations of the iron regulatory element (IRE) in the ferritin l-chain mRNA. The mutations are rare and fast DNA scanning would facilitate diagnosis. The aim of the study was to compare the analytical performances...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2141.2003.04253.x

    authors: Cremonesi L,Paroni R,Foglieni B,Galbiati S,Fermo I,Soriani N,Belloli S,Ruggeri G,Biasiotto G,Cazzola M,Ferrari F,Ferrari M,Arosio P

    更新日期:2003-04-01 00:00:00

  • Therapy with low-dose azacitidine for MDS in children and young adults: a retrospective analysis of the EWOG-MDS study group.

    abstract::Low-dose azacitidine is efficient and safe in the therapy of malignant myeloid disorders in adults but data in children are lacking. We present a retrospective analysis of 24 children and young adults with myelodysplastic syndrome (MDS) who received azacitidine at the time of first diagnosis or relapse after allotrans...

    journal_title:British journal of haematology

    pub_type: 杂志文章,多中心研究

    doi:10.1111/bjh.13915

    authors: Cseh AM,Niemeyer CM,Yoshimi A,Catala A,Frühwald MC,Hasle H,van den Heuvel-Eibrink MM,Lauten M,De Moerloose B,Smith OP,Bernig T,Gruhn B,Kulozik AE,Metzler M,Olcay L,Suttorp M,Furlan I,Strahm B,Flotho C

    更新日期:2016-03-01 00:00:00