Hb Foggia or alpha 117(GH5)Phe -> Ser: a new alpha 2 globin allele affecting the alpha Hb-AHSP interaction.

Abstract:

:We report a novel alpha2-globin gene allele with the mutation cod 117 TTC>TCC or alpha 117(GH5)Phe>Ser detected in three carriers with alpha-thalassemia phenotype. The mutated mRNA was present in the reticulocytes in the same amount as the normal one, but no chain or hemoglobin variant were detected. Most likely the amino acid substitution impairs the interaction of the alpha-chain variant with the AHSP and prevents its stabilizing effect, thus leading to the alpha-chain pool reduction.

journal_name

Haematologica

journal_title

Haematologica

authors

Lacerra G,Scarano C,Musollino G,Flagiello A,Pucci P,Carestia C

doi

10.3324/haematol.11789

subject

Has Abstract

pub_date

2008-01-01 00:00:00

pages

141-2

issue

1

eissn

0390-6078

issn

1592-8721

pii

93/1/141

journal_volume

93

pub_type

信件
  • Results and conclusions of the European Intergroup EURO-LB02 trial in children and adolescents with lymphoblastic lymphoma.

    abstract::In the European Intergroup EURO-LB02 trial, children and adolescents with lymphoblastic lymphoma underwent the non-Hodgkin lymphoma Berlin-Frankfurt-Münster protocol without prophylactic cranial radiotherapy. The primary aims of this trial were to test whether replacing prednisone with dexamethasone during induction i...

    journal_title:Haematologica

    pub_type: 临床试验,杂志文章

    doi:10.3324/haematol.2015.139162

    authors: Landmann E,Burkhardt B,Zimmermann M,Meyer U,Woessmann W,Klapper W,Wrobel G,Rosolen A,Pillon M,Escherich G,Attarbaschi A,Beishuizen A,Mellgren K,Wynn R,Ratei R,Plesa A,Schrappe M,Reiter A,Bergeron C,Patte C,Bertran

    更新日期:2017-12-01 00:00:00

  • Long-term follow up of the FL2000 study comparing CHVP-interferon to CHVP-interferon plus rituximab in follicular lymphoma.

    abstract::Anti-CD20-containing chemotherapy regimens have become the standard of care for patients with follicular lymphoma needing cytotoxic therapy. Four randomized trials demonstrated a clinical benefit for patients treated with rituximab. However, no long-term follow up (i.e. > 5 years) of these trials is yet available. Bet...

    journal_title:Haematologica

    pub_type: 杂志文章,随机对照试验

    doi:10.3324/haematol.2012.082412

    authors: Bachy E,Houot R,Morschhauser F,Sonet A,Brice P,Belhadj K,Cartron G,Audhuy B,Fermé C,Feugier P,Sebban C,Delwail V,Maisonneuve H,Le Gouill S,Lefort S,Brousse N,Foussard C,Salles G,Groupe d'Etude des Lymphomes de l'Adult

    更新日期:2013-07-01 00:00:00

  • International reference analysis of outcomes in adults with B-precursor Ph-negative relapsed/refractory acute lymphoblastic leukemia.

    abstract::Adults with relapsed/refractory acute lymphoblastic leukemia have an unfavourable prognosis, which is influenced by disease and patient characteristics. To further evaluate these characteristics, a retrospective analysis of 1,706 adult patients with Ph-negative relapsed/refractory B-precursor acute lymphoblastic leuke...

    journal_title:Haematologica

    pub_type: 杂志文章,多中心研究

    doi:10.3324/haematol.2016.144311

    authors: Gökbuget N,Dombret H,Ribera JM,Fielding AK,Advani A,Bassan R,Chia V,Doubek M,Giebel S,Hoelzer D,Ifrah N,Katz A,Kelsh M,Martinelli G,Morgades M,O'Brien S,Rowe JM,Stieglmaier J,Wadleigh M,Kantarjian H

    更新日期:2016-12-01 00:00:00

  • Low RPS14 expression is common in myelodysplastic syndromes without 5q- aberration and defines a subgroup of patients with prolonged survival.

    abstract::To further clarify the role of ribosomal protein S14 (RPS14) in myelodysplastic syndrome, we examined RPS14 transcription in bone marrow derived CD34+ cells from patients with non-5q- myelodysplastic syndrome and found a reduced expression of RPS14 in 51 of 72 (71%) patients. MDS patients with an intermediate-1 risk (...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:10.3324/haematol.2009.008508

    authors: Czibere A,Bruns I,Junge B,Singh R,Kobbe G,Haas R,Germing U

    更新日期:2009-10-01 00:00:00

  • In vivo T-cell immune response against anaplastic lymphoma kinase in patients with anaplastic large cell lymphomas.

    abstract:BACKGROUND AND OBJECTIVES:Anaplastic lymphoma kinase (ALK) oncogenic fusion proteins, expressed in about 60% of anaplastic large cell lymphomas (ALCL), are tumor-specific molecular targets for such a malignancy. One of the promising ALK-targeted therapeutic options is cancer vaccination. In this study, we investigate w...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:

    authors: Passoni L,Gallo B,Biganzoli E,Stefanoni R,Massimino M,Di Nicola M,Gianni AM,Gambacorti-Passerini C

    更新日期:2006-01-01 00:00:00

  • Acute nonlymphocytic leukemia in the elderly: results of a retrospective study.

    abstract::Seventy-four patients over 60 years of age with new cases of ANLL diagnosed between January, 1980 and December, 1986 were retrospectively evaluated. Twenty-nine (median age 63, range 60-70) received aggressive induction polychemotherapy: 15 achieved CR (52%), 10 were resistant (34.5%) and 4 died during induction (13.5...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:

    authors: Latagliata R,Sgadari C,Pisani F,Falconi M,Spadea A,Vegna ML,Petti MC

    更新日期:1989-03-01 00:00:00

  • Translocation t(9;14)(p13;q32) in cases of splenic marginal zone lymphoma.

    abstract::Translocation t(9;14)(p13;q32) involving PAX5 and IGH genes was first described in lymphoplasmacytic lymphoma. New data suggest that this translocation is not restricted to a specific morphologic subtype but occurs in other B-cell lymphomas. We present three cases with a diagnosis of splenic marginal zone lymphoma and...

    journal_title:Haematologica

    pub_type: 信件

    doi:

    authors: Baró C,Salido M,Domingo A,Granada I,Colomo L,Serrano S,Solé F

    更新日期:2006-09-01 00:00:00

  • Mononuclear cell (MNC) concentration from the marrow harvest by automatic system.

    abstract::The availability of reliable and standardizable procedures with low contamination risk and less prominent loss in MNC, would solve the existing perplexities about the systematic use of this passage. We tried to experiment Areman's et al protocol that utilizes the CS 3000 blood cell processor without gradient, making s...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:

    authors: Franchini E,Porlezza M

    更新日期:1991-03-01 00:00:00

  • Knockdown of Hnrnpa0, a del(5q) gene, alters myeloid cell fate in murine cells through regulation of AU-rich transcripts.

    abstract::The control of mRNA stability plays a central role in orchestrating gene-regulatory networks in hematopoietic cell growth, differentiation and tumorigenesis. HNRNPA0, which encodes an RNA-binding protein shown to regulate transcript stability via binding to the AU-rich elements of mRNAs, is located within the commonly...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:10.3324/haematol.2013.098657

    authors: Young DJ,Stoddart A,Nakitandwe J,Chen SC,Qian Z,Downing JR,Le Beau MM

    更新日期:2014-06-01 00:00:00

  • Myeloproliferative disease in patients with a history of multiple blood donations: a report of 8 cases.

    abstract:BACKGROUND:The clonal origin of myeloproliferative disorders has been clearly demonstrated and it is known that reactive thrombocytosis occurs as a non specific response to various inflammatory or neoplastic conditions. Only a few papers have discussed the topic of myeloproliferative diseases in blood donors. MATERIAL...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:

    authors: Randi ML,Rossi C,Barbone E,Cavatton G,Fabris F,Girolami A

    更新日期:1994-03-01 00:00:00

  • Association of UGT1A1 polymorphism with prevalence and age at onset of cholelithiasis in sickle cell anemia.

    abstract:BACKGROUND AND OBJECTIVES:High levels of erythrocyte destruction in sickle cell anemia (SCA) result in chronic hyperbilirubinemia, with cholelithiasis occurring in a subset of patients. We investigated whether susceptibility to cholelithiasis in SCA was associated with the promoter polymorphism of the 5?-diphosphate-gl...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:

    authors: Chaar V,Kéclard L,Diara JP,Leturdu C,Elion J,Krishnamoorthy R,Clayton J,Romana M

    更新日期:2005-02-01 00:00:00

  • Aerobic glycolysis fuels platelet activation: small-molecule modulators of platelet metabolism as anti-thrombotic agents.

    abstract::Platelets are critical to arterial thrombosis, which underlies myocardial infarction and stroke. Activated platelets, regardless of the nature of their stimulus, initiate energy-intensive processes that sustain thrombus, while adapting to potential adversities of hypoxia and nutrient deprivation within the densely pac...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:10.3324/haematol.2018.205724

    authors: Kulkarni PP,Tiwari A,Singh N,Gautam D,Sonkar VK,Agarwal V,Dash D

    更新日期:2019-04-01 00:00:00

  • Childhood sickle cell crises: clinical severity, inflammatory markers and the role of interleukin-8.

    abstract::There is emerging consensus that a pro-inflammatory condition contributes to the vaso-occlusive complications of sickle cell disease (SCD). We evaluated the potential value of inflammatory mediators as early markers of severity of painful vaso-occlusive crises (VOC) in SCD. We assayed the plasma levels of cytokines, s...

    journal_title:Haematologica

    pub_type: 信件

    doi:

    authors: Etienne-Julan M,Belloy MS,Decastel M,Dougaparsad S,Ravion S,Hardy-Dessources MD

    更新日期:2004-07-01 00:00:00

  • Chromosomal alterations detected by comparative genomic hybridization in subgroups of gene expression-defined Burkitt's lymphoma.

    abstract:BACKGROUND:Burkitt's lymphoma is an aggressive B-cell lymphoma characterized by typical morphological, immunophenotypic and molecular features. Gene expression profiling provided a molecular signature of Burkitt's lymphoma, but also demonstrated that a subset of aggressive B-cell lymphomas not fulfilling the current Wo...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:10.3324/haematol.13071

    authors: Salaverria I,Zettl A,Beà S,Hartmann EM,Dave SS,Wright GW,Boerma EJ,Kluin PM,Ott G,Chan WC,Weisenburger DD,Lopez-Guillermo A,Gascoyne RD,Delabie J,Rimsza LM,Braziel RM,Jaffe ES,Staudt LM,Müller-Hermelink HK,Campo E,

    更新日期:2008-09-01 00:00:00

  • Tetraploidy or near-tetraploidy clones with double 8;21 translocation: a non-random additional anomaly of acute myeloid leukemia with t(8;21)(q22;q22).

    abstract::We report on 6 patients with tetraploidy or near-tetraploidy acute myeloid leukemia (AML) with double t(8;21) (q22;q22) and review the literature on cases with the same cytogenetic abnormalities. Some common features were revealed by this analysis. ...

    journal_title:Haematologica

    pub_type: 信件

    doi:

    authors: Xiao Z,Liu S,Liu X,Yu M,Hao Y

    更新日期:2005-03-01 00:00:00

  • Expression of multidrug resistance gene (MDR-1) in human normal leukocytes.

    abstract:BACKGROUND:The mdr-1 gene, which codes for a 170-kd transmembrane glycoprotein (P170), is frequently overexpressed in multidrug resistant (MDR) tumor cell lines and in spontaneous tumors, including leukemia and lymphoma. However, it is also constitutively expressed as a normal gene in normal tissues. METHODS:We used h...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:

    authors: Damiani D,Michieli M,Michelutti A,Geromin A,Raspadori D,Fanin R,Savignano C,Giacca M,Pileri S,Mallardi F

    更新日期:1993-01-01 00:00:00

  • Fractionated cyclophosphamide added to the IVAP regimen (idarubicin-vincristine-L-asparaginase-prednisone) could lower the risk of primary refractory disease in T-lineage but not B-lineage acute lymphoblastic leukemia: first results from a phase II clinic

    abstract:BACKGROUND AND OBJECTIVE:In a prior study, primary resistant acute lymphoblastic leukemia (RES-ALL) was observed in 11 of 176 (6%) adult patients treated with a four drug regimen (IVAP), its incidence being higher in T-cell or Philadelphia (Ph) chromosome/BCR-ABL rearrangement positive ALL cases with a blast cell count...

    journal_title:Haematologica

    pub_type: 临床试验,杂志文章,多中心研究

    doi:

    authors: Bassan R,Pogliani E,Lerede T,Fabris P,Rossi G,Morandi S,Casula P,Lambertenghi-Deliliers G,Vespignani M,Izzi T,Coser P,Corneo G,Barbui T

    更新日期:1999-12-01 00:00:00

  • Mitotic separation of daughter cells in the human lymphoma B cell line Daudi involves L-selectin engagement and shedding.

    abstract:BACKGROUND AND OBJECTIVE:A novel role for shedding of the surface molecule L-selectin has been proposed as an adjunctive phenomenon during cell detachment from marrow stroma or vessel endothelium. We wished to examine whether variations in expression of L-selectin on a lymphoma B cell line were linked to shedding. DES...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:

    authors: Po JL,Mak A,Ginsberg D,Huerta P,Manoukian R,Shustik C,Jensen GS

    更新日期:1999-09-01 00:00:00

  • Multipotent stromal cells skew monocytes towards an anti-inflammatory interleukin-10-producing phenotype by production of interleukin-6.

    abstract::Multipotent stromal cells have immunomodulatory capacities and have been used in transplantation and autoimmune diseases. One of the effects of multipotent stromal cells involves the inhibition of dendritic cell differentiation. Since interleukin-6 and interleukin-10 are known to play a role in inhibiting immature den...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:10.3324/haematol.2012.078055

    authors: Melief SM,Geutskens SB,Fibbe WE,Roelofs H

    更新日期:2013-06-01 00:00:00

  • Cost-effectiveness and clinical outcomes of double versus single cord blood transplantation in adults with acute leukemia in France.

    abstract::Double cord blood transplantation extends the use of cord blood to adults for whom a single unit is not available, but the procedure is limited by its cost. To evaluate outcomes and cost-effectiveness of double compared to single cord blood transplantation, we analyzed 134 transplants in adults with acute leukemia in ...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:10.3324/haematol.2013.092254

    authors: Labopin M,Ruggeri A,Gorin NC,Gluckman E,Blaise D,Mannone L,Milpied N,Yakoub-Agha I,Deconinck E,Michallet M,Fegueux N,Socié G,Nguyen S,Cahn JY,de Revel T,Garnier F,Faucher C,Taright N,Kenzey C,Volt F,Bertrand D,M

    更新日期:2014-03-01 00:00:00

  • Cost analysis of common treatment options for indolent follicular non-Hodgkin's lymphoma.

    abstract:BACKGROUND AND OBJECTIVES:We assessed direct health care costs associated with the most commonly prescribed treatments for indolent follicular non-Hodgkin's lymphoma (FL). DESIGN AND METHODS:New and previously diagnosed FL patients (>or=18 years) known during 1997-1998 to 15 Dutch hospitals were selected for inclusion...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:

    authors: van Agthoven M,Kramer MH,Sonneveld P,van der Hem KG,Huijgens PC,Wijermans PW,Kluin-Nelemans HC,Schaafsma MR,Biesma DH,Mattijssen V,Uyl-de Groot CA,Hagenbeek A

    更新日期:2005-10-01 00:00:00

  • Differential effects of rapamycin and retinoic acid on expansion, stability and suppressive qualities of human CD4(+)CD25(+)FOXP3(+) T regulatory cell subpopulations.

    abstract::Adoptive transfer of ex vivo expanded CD4(+)CD25(+)FOXP3(+) regulatory T cells is a successful therapy for autoimmune diseases and transplant rejection in experimental models. In man, equivalent manipulations in bone marrow transplant recipients appear safe, but questions regarding the stability of the transferred reg...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:10.3324/haematol.2012.074088

    authors: Scottà C,Esposito M,Fazekasova H,Fanelli G,Edozie FC,Ali N,Xiao F,Peakman M,Afzali B,Sagoo P,Lechler RI,Lombardi G

    更新日期:2013-08-01 00:00:00

  • Immune reconstitution after autologous hematopoietic stem cell transplantation in relation to underlying disease, type of high-dose therapy and infectious complications.

    abstract:BACKGROUND AND OBJECTIVES:Autologous peripheral stem cell transplantation (APSCT) is increasingly used for various hematologic malignancies and solid tumors. The objective of this study was to analyze the immune reconstitution after APSCT and see if there was any correlation with diagnosis, age, type of high-dose thera...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:

    authors: Steingrimsdottir H,Gruber A,Björkholm M,Svensson A,Hansson M

    更新日期:2000-08-01 00:00:00

  • Feasibility and results of autologous stem cell transplantation in de novo acute myeloid leukemia in patients over 60 years old. Results of the CETLAM AML-99 protocol.

    abstract:BACKGROUND AND OBJECTIVES:The benefits of high-dose cytarabine, anthracyclines and hematopoietic stem cell transplantation in the treatment of acute myeloid leukemia (AML) are greater in younger rather than in older patients. We assessed the proportion of patients over 60 years with de novo AML who qualified for intens...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:

    authors: Oriol A,Ribera JM,Esteve J,Guàrdia R,Brunet S,Bueno J,Pedro C,Llorente A,Tormo M,Besalduch J,Sánchez JM,Batlle M,Vivancos P,Carreras E,Vilà JM,Julià A,Sierra J,Montserrat E,Feliu E,CETLAM AML-99.

    更新日期:2004-07-01 00:00:00

  • Impact of dose intensity on outcome of fludarabine, cyclophosphamide, and rituximab regimen given in the first-line therapy for chronic lymphocytic leukemia.

    abstract::Fludarabine-cyclophosphamide-rituximab is the most efficient first-line treatment for chronic lymphocytic leukemia patients. Many dose adjustments of the original MD Anderson Cancer Center regimen have been proposed. However, whether fludarabine-cyclophosphamide-rituximab relative dose intensity may have an impact on ...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:10.3324/haematol.2012.070755

    authors: Bouvet E,Borel C,Obéric L,Compaci G,Cazin B,Michallet AS,Laurent G,Ysebaert L

    更新日期:2013-01-01 00:00:00

  • In chronic myeloid leukemia white cells from cytogenetic responders and non-responders to imatinib have very similar gene expression signatures.

    abstract:BACKGROUND AND OBJECTIVES:Imatinib induces complete cytogenetic responses (CCR) in the majority of patients with chronic myeloid leukemia (CML) in chronic phase (CP). However, a subgroup of patients is refractory at the cytogenetic level. Clinically, it would be advantageous to identify such patients a priori, since th...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:

    authors: Crossman LC,Mori M,Hsieh YC,Lange T,Paschka P,Harrington CA,Krohn K,Niederwieser DW,Hehlmann R,Hochhaus A,Druker BJ,Deininger MW

    更新日期:2005-04-01 00:00:00

  • Myeloma plasma cells alter the bone marrow microenvironment by stimulating the proliferation of mesenchymal stromal cells.

    abstract::Multiple myeloma is an incurable hematologic cancer characterized by the clonal proliferation of malignant plasma cells within the bone marrow. Numerous studies suggest that the myeloma plasma cells occupy and alter the stromal tissue of the bone marrow as a means of enhancing their survival and growth. However, the n...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:10.3324/haematol.2013.090977

    authors: Noll JE,Williams SA,Tong CM,Wang H,Quach JM,Purton LE,Pilkington K,To LB,Evdokiou A,Gronthos S,Zannettino AC

    更新日期:2014-01-01 00:00:00

  • Clinical profile and treatment outcome of older (>75 years) patients with systemic AL amyloidosis.

    abstract::Systemic AL amyloidosis, a disease with improving outcomes using novel therapies, is increasingly recognized in the elderly but treatment and outcomes have not been systematically studied in this group of patients in whom comorbidities and frailty may compound morbidity and mortality. We report the outcomes of 295 pat...

    journal_title:Haematologica

    pub_type: 临床试验,杂志文章

    doi:10.3324/haematol.2015.128025

    authors: Sachchithanantham S,Offer M,Venner C,Mahmood SA,Foard D,Rannigan L,Lane T,Gillmore JD,Lachmann HJ,Hawkins PN,Wechalekar AD

    更新日期:2015-11-01 00:00:00

  • Cancer testis antigens in newly diagnosed and relapse multiple myeloma: prognostic markers and potential targets for immunotherapy.

    abstract:BACKGROUND:In multiple myeloma, expression of cancer testis antigens may provide prognostic markers and potential targets for immunotherapy. Expression at relapse has not yet been evaluated for a large panel of cancer testis antigens which can be classified by varying expression in normal tissue: restricted to testis, ...

    journal_title:Haematologica

    pub_type: 杂志文章,多中心研究,随机对照试验

    doi:10.3324/haematol.2010.037978

    authors: van Duin M,Broyl A,de Knegt Y,Goldschmidt H,Richardson PG,Hop WC,van der Holt B,Joseph-Pietras D,Mulligan G,Neuwirth R,Sahota SS,Sonneveld P

    更新日期:2011-11-01 00:00:00

  • Mesenchymal stem cells are present in peripheral blood and can engraft after allogeneic hematopoietic stem cell transplantation.

    abstract:BACKGROUND AND OBJECTIVES:Whether human mesenchymal stem cells (MSC) can be transplanted is controversial and their presence in peripheral blood is not fully accepted. In the present study we have analyzed whether, within the allogeneic transplantation setting, MSC are of host or donor origin. DESIGN AND METHODS:Bone ...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:

    authors: Villaron EM,Almeida J,López-Holgado N,Alcoceba M,Sánchez-Abarca LI,Sanchez-Guijo FM,Alberca M,Pérez-Simon JA,San Miguel JF,Del Cañizo MC

    更新日期:2004-12-01 00:00:00