Clinical and hematological features of codon 17, A-T mutation of beta-thalassemia in Thai patients.

Abstract:

:Forty-one patients with codon 17, A-T mutation of beta-thalassemia, which is commonly found in Thailand, were studied to determine whether it is possible to predict phenotypic severity from genetic factors. The clinical phenotype of homozygotes for codon 17, A-T and compound heterozygotes for codon 17, A-T and beta+-thalassemia may be used to predict a severe phenotype with TM. However, the clinical phenotype of compound heterozygotes for codon 17, A-T and beta+-thalassemia or Hb E were variable and could not be accurately predicted. The association of alpha-thalassemia2 and milder disease was and was not evident in patients with codon 17, A-T and Hb E. The association between Hb CS gene or the presence of XmnI-Ggamma polymorphism and a mild clinical phenotype is not apparent, indicating the involvement of other ameliorating determinants or genetic modifications.

journal_name

Eur J Haematol

authors

Laosombat V,Wongchanchailert M,Sattayasevana B,Wiriyasateinkul A,Fucharoen S

doi

10.1034/j.1600-0609.2001.00305.x

subject

Has Abstract

pub_date

2001-02-01 00:00:00

pages

126-9

issue

2

eissn

0902-4441

issn

1600-0609

pii

ejh305

journal_volume

66

pub_type

杂志文章
  • Responsiveness of cytogenetically discrete human myeloma cell lines to lenalidomide: lack of correlation with cereblon and interferon regulatory factor 4 expression levels.

    abstract::The introduction of novel immunomodulatory drugs (IMiDs) has dramatically improved the survival of patients with multiple myeloma (MM). While it has been shown that patients with specific cytogenetic subtypes, namely t(4;14), have the best outcomes when treated with bortezomib-based regimens, the relationship between ...

    journal_title:European journal of haematology

    pub_type: 杂志文章

    doi:10.1111/ejh.12192

    authors: Greenberg AJ,Walters DK,Kumar SK,Rajkumar SV,Jelinek DF

    更新日期:2013-12-01 00:00:00

  • Myeloid malignancies with acquired trisomy 21 as the sole cytogenetic change are clinically highly variable and display a heterogeneous pattern of copy number alterations and mutations.

    abstract:OBJECTIVES:Acquired trisomy 21 is one of the most common numerical abnormalities in acute myeloid leukemia (AML), myelodysplastic syndrome (MDS), myeloproliferative neoplasms (MPN), and MDS/MPN; however, little is known about its pathogenic impact, accompanying submicroscopic changes, and its relation to other clinical...

    journal_title:European journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1600-0609.2011.01710.x

    authors: Larsson N,Lilljebjörn H,Lassen C,Johansson B,Fioretos T

    更新日期:2012-02-01 00:00:00

  • Retrospective nationwide survey of Japanese patients with transfusion-dependent MDS and aplastic anemia highlights the negative impact of iron overload on morbidity/mortality.

    abstract:OBJECTIVE:Myelodysplastic syndromes (MDS) and aplastic anemia (AA) are the most common anemias that require transfusion therapy in Japan. This retrospective survey investigated relationships between iron overload, chelation practices, and morbidity/mortality in patients with these diseases. METHOD:Medical histories of...

    journal_title:European journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1600-0609.2007.00842.x

    authors: Takatoku M,Uchiyama T,Okamoto S,Kanakura Y,Sawada K,Tomonaga M,Nakao S,Nakahata T,Harada M,Murate T,Ozawa K,Japanese National Research Group on Idiopathic Bone Marrow Failure Syndromes.

    更新日期:2007-06-01 00:00:00

  • Free iron catalyzes oxidative damage to hematopoietic cells/mesenchymal stem cells in vitro and suppresses hematopoiesis in iron overload patients.

    abstract:OBJECTIVES:Transfusional iron overload is of major concern in hematological disease. Iron-overload-related dyserythropoiesis and reactive oxygen species (ROS)-related damage to hematopoietic stem cell (HSC) function are major setbacks in treatment for such disorders. We therefore aim to investigate the effect of iron o...

    journal_title:European journal of haematology

    pub_type: 杂志文章

    doi:10.1111/ejh.12159

    authors: Lu W,Zhao M,Rajbhandary S,Xie F,Chai X,Mu J,Meng J,Liu Y,Jiang Y,Xu X,Meng A

    更新日期:2013-09-01 00:00:00

  • Survivin expression, apoptosis and proliferation in chronic myelomonocytic leukemia.

    abstract::We analyzed the expression of the inhibitor of apoptosis survivin by immunocytochemistry in bone marrow cells from patients with chronic myelomonocytic leukemia (CMML) to evaluate possible abnormalities in comparison with other myelodysplastic (MDS) and myeloproliferative syndromes, and to investigate a possible corre...

    journal_title:European journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.0902-4441.2006.t01-1-EJH2588.x

    authors: Invernizzi R,Travaglino E,Benatti C,Malcovati L,Della Porta M,Cazzola M,Ascari E

    更新日期:2006-06-01 00:00:00

  • Bone scan images reveal increased osteoblastic function after bortezomib treatment in patients with multiple myeloma.

    abstract::Osteolytic lesions with activated osteoclast (OC) and suppressed osteoblast (OB) activity are characteristics of myeloma bone lesion. Recently, it has been shown that bortezomib treatment enhances OB function. To evaluate the effect of bortezomib on myeloma bone lesions, we performed bone scans, where increased uptake...

    journal_title:European journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1600-0609.2010.01523.x

    authors: Lee SE,Min CK,Yahng SA,Cho BS,Eom KS,Kim YJ,Kim HJ,Lee S,Cho SG,Kim DW,Lee JW,Min WS,Park CW

    更新日期:2011-01-01 00:00:00

  • Cladribine combined with rituximab (R-2-CdA) therapy is an effective salvage therapy in relapsed or refractory indolent B-cell non-Hodgkin lymphoma.

    abstract::Although cladribine has been reported to be an active purine analog against indolent B-cell non-Hodgkin lymphoma (B-NHL), there are few reports of combination use of cladribine and rituximab. This multicenter phase II study evaluated the efficacy and toxicity of cladribine with rituximab (R-2-CdA) therapy in relapsed ...

    journal_title:European journal of haematology

    pub_type: 杂志文章,多中心研究

    doi:10.1111/j.1600-0609.2010.01552.x

    authors: Nagai H,Ogura M,Kusumoto S,Takahashi N,Yamaguchi M,Takayama N,Kinoshita T,Motoji T,Ohyashiki K,Kosugi H,Matsuda S,Ohnishi K,Omachi K,Hotta T

    更新日期:2011-02-01 00:00:00

  • Pediatric Diamond-Blackfan anemia in the Netherlands: An overview of clinical characteristics and underlying molecular defects.

    abstract:INTRODUCTION:Diamond-Blackfan anemia (DBA) is characterized by hypoplastic anemia, congenital anomalies, and a predisposition for malignancies. Most of our understanding of this disorder stems from molecular studies combined with extensive data input from international patient registries. OBJECTIVES:To create an overv...

    journal_title:European journal of haematology

    pub_type: 杂志文章

    doi:10.1111/ejh.12995

    authors: van Dooijeweert B,van Ommen CH,Smiers FJ,Tamminga RYJ,Te Loo MW,Donker AE,Peters M,Granzen B,Gille HJJP,Bierings MB,MacInnes AW,Bartels M

    更新日期:2018-02-01 00:00:00

  • Altered erythropoiesis and iron metabolism in carriers of thalassemia.

    abstract::The thalassemia syndromes (α- and β-thalassemia) are the most common and frequent disorders associated with ineffective erythropoiesis. Imbalance of α- or β-globin chain production results in impaired red blood cell synthesis, anemia, and more erythroid progenitors in the blood stream. While patients affected by these...

    journal_title:European journal of haematology

    pub_type: 杂志文章

    doi:10.1111/ejh.12464

    authors: Guimarães JS,Cominal JG,Silva-Pinto AC,Olbina G,Ginzburg YZ,Nandi V,Westerman M,Rivella S,de Souza AM

    更新日期:2015-06-01 00:00:00

  • CD1-reactive leukemic cells in bone marrow: presence of Langerhans cell marker on leukemic monocytic cells.

    abstract::Langerhans cells originate in bone marrow and probably belong to the monocyte-macrophage lineage. CD1 is a specific marker of Langerhans cells. By immunofluorescence and immunoelectron microscopy, CD1a antigen and myeloid markers (CD11, CD13, CD14, CD15, CD33, HLA-DR) were studied in 53 cases of acute myeloid leukemia...

    journal_title:European journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1600-0609.1992.tb01789.x

    authors: Misery L,Campos L,Dezutter-Dambuyant C,Guyotat D,Treille D,Schmitt D,Thivolet J

    更新日期:1992-01-01 00:00:00

  • Profiling of immune-related microRNA expression in human cord blood and adult peripheral blood cells upon proinflammatory stimulation.

    abstract:OBJECTIVES:Cord blood (CB) transplantation has advantages in terms of incidence and severity of acute graft-versus-host disease (GVHD), while it has disadvantages in terms of infection. Our aim is to elucidate the molecular mechanism underlying the immune response of CB-derived cells during acute GVHD and infection fol...

    journal_title:European journal of haematology

    pub_type: 临床试验,杂志文章

    doi:10.1111/j.1600-0609.2011.01707.x

    authors: Takahashi N,Nakaoka T,Yamashita N

    更新日期:2012-01-01 00:00:00

  • PlGF and sFlt-1 levels in patients with non-transfusion-dependent thalassemia: Correlations with markers of iron burden and endothelial dysfunction.

    abstract:BACKGROUND:Levels of the angiogenic cytokines placental growth factor (PlGF) and soluble Fms-like tyrosine kinase-1 (sFlt-1) and the angiogenic balance, expressed by sFlt-1/PlGF ratio, are perturbed in sickle-cell disease and iron overload, but they have not been evaluated in non-transfusion-dependent thalassemia (NTDT...

    journal_title:European journal of haematology

    pub_type: 杂志文章

    doi:10.1111/ejh.13061

    authors: Kelaidi C,Kattamis A,Apostolakou F,Poziopoulos C,Lazaropoulou C,Delaporta P,Kanavaki I,Papassotiriou I

    更新日期:2018-06-01 00:00:00

  • Immunological effects in patients with steroid-refractory graft-versus-host disease following treatment with basiliximab, a CD25 monoclonal antibody.

    abstract::Steroid-refractory graft-versus-host disease (GvHD) is a complication following an allogeneic stem cell transplantation with limited therapeutic options. Studies have shown a response in up to 80% of patients with this condition after treatment with the CD25 monoclonal antibody, basiliximab. Despite the good responses...

    journal_title:European journal of haematology

    pub_type: 杂志文章

    doi:10.1111/ejh.12691

    authors: Chakupurakal G,García-Márquez MA,Shimabukuro-Vornhagen A,Theurich S,Holtick U,Hallek M,Scheid C,von Bergwelt-Baildon M

    更新日期:2016-08-01 00:00:00

  • Immunocytochemical detection of bone marrow-invasive neuroblastoma cells.

    abstract::We evaluated the utility of an immunocytochemical technique employing the commercially available anti-CD56 monoclonal antibody, NKH 1. The utility and sensitivity of this technique in the detection of invasive neuroblastoma (NB) cells in the bone marrow were compared with those of Wright-Giemsa staining. The correlati...

    journal_title:European journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1600-0609.1994.tb01868.x

    authors: Nagai J,Kigasawa H,Tomioka K,Koga N,Nishihira H,Nagao T

    更新日期:1994-08-01 00:00:00

  • Uneventful outcome of unrelated hematopoietic stem cell transplantation in a patient with leukemic transformation of Kostmann syndrome and long-lasting invasive pulmonary mycosis.

    abstract::Kostmann syndrome (KS) is an inherited hematological disorder characterized by an absolute neutrophil count (ANC) <0.2 x 109/L and life-threatening bacterial infections. Granulocyte-colony stimulating factor (G-CSF) makes it possible to reach an ANC of 1.0 x 109/L and consequently to reduce significantly the occurrenc...

    journal_title:European journal of haematology

    pub_type: 杂志文章

    doi:10.1034/j.1600-0609.2003.00062.x

    authors: Dallorso S,Manzitti C,Dodero P,Faraci M,Rosanda C,Castagnola E

    更新日期:2003-05-01 00:00:00

  • Functional polymorphisms in the NBS1 gene and acute lymphoblastic leukemia susceptibility in a Chinese population.

    abstract::As a component of the MRN complex (which is a heterotrimeric protein complex consisting of MRE11, RAD50 and NBS1), NBS1 plays an important role in cellular response to DNA damage and the maintenance of chromosomal integrity. Leukemia is common in NBS1 germ line-mutated patients. The NBS1 E185Q polymorphism (8360G>C, r...

    journal_title:European journal of haematology

    pub_type: 杂志文章,多中心研究

    doi:10.1111/j.1600-0609.2010.01562.x

    authors: Jiang L,Liang J,Jiang M,Yu X,Zheng J,Liu H,Wu D,Zhou Y

    更新日期:2011-03-01 00:00:00

  • The enigma of the metabolic fate of circulating erythropoietin (Epo) in view of the pharmacokinetics of the recombinant drugs rhEpo and NESP.

    abstract::Recombinant human erythropoietin (rhEpo) is a mainstay in the treatment of anaemia, primarily in renal failure. Because the half-life of circulating rhEpo is relatively short (4-8 h), the drug is usually administered 2-3 times weekly. Recently, a novel erythropoiesis-stimulating protein (NESP) with a longer half-life ...

    journal_title:European journal of haematology

    pub_type: 杂志文章,评审

    doi:10.1034/j.1600-0609.2002.02813.x

    authors: Jelkmann W

    更新日期:2002-11-01 00:00:00

  • Isolation and characterization of a tumor necrosis factor binding protein from urine.

    abstract::Tumor necrosis factor (TNF)/cachectin can produce both beneficial and harmful manifestations. Mechanisms may operate to counteract potentially harmful effects such as shock and cachexia. The TNF binding protein (TNF-BP), which is found at increased levels in serum and urine of patients with chronic renal failure, may ...

    journal_title:European journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1600-0609.1989.tb00111.x

    authors: Olsson I,Lantz M,Nilsson E,Peetre C,Thysell H,Grubb A,Adolf G

    更新日期:1989-03-01 00:00:00

  • Is higher income and educational status associated with poorer outcome in patients with Hodgkin's disease?

    abstract:OBJECTIVES:The aim of the study was to determine the impact of socioeconomic status on relapse-free survival (RFS) in patients with Hodgkin's disease. METHODS:A number of factors were analyzed for their impact on relapse-free and overall survival in Hodgkin's disease using Cox regression. These factors included socioe...

    journal_title:European journal of haematology

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1111/j.1600-0609.2004.00315.x

    authors: Holzner B,Fischhofer M,Kemmler G,Kopp M,Sperner-Unterweger B,Krugmann J,Dirnhofer S,Greil R

    更新日期:2004-11-01 00:00:00

  • Expression of tartrate-resistant acid phosphatase in B-CLL treated with phorbol ester or phorbol ester plus calcium ionophore.

    abstract::Cells from 3 patients with B-chronic lymphocytic leukaemia (B-CLL) and 1 with B-prolymphocytic leukaemia (B-PLL) were treated in vitro with the phorbol ester 12-0-tetradecanoylphorbol (TPA), the calcium ionophore A23187, or a combination of TPA and A23187. TPA induced the cells to adhere to the culture flask or to clu...

    journal_title:European journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1600-0609.1988.tb01189.x

    authors: Drexler HG,Brenner MK,Gignac SM,Hoffbrand AV

    更新日期:1988-09-01 00:00:00

  • Histone deacetylase inhibitors reduce VEGF production and induce growth suppression and apoptosis in human mantle cell lymphoma.

    abstract:OBJECTIVES:Mantle cell lymphoma (MCL) is an incurable disease with an aggressive course and novel treatment strategies are urgently needed. The purpose of this study was to evaluate the effects of histone deacetylase (HDAC) inhibitors, a new group of antiproliferative agents, on human MCL cells. METHODS:Three MCL cell...

    journal_title:European journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1600-0609.2005.00546.x

    authors: Heider U,Kaiser M,Sterz J,Zavrski I,Jakob C,Fleissner C,Eucker J,Possinger K,Sezer O

    更新日期:2006-01-01 00:00:00

  • Novel G6B gene variant causes familial autosomal recessive thrombocytopenia and anemia.

    abstract:OBJECTIVE:To characterize the underlying genetic and molecular defects in a consanguineous family with lifelong blood disorder manifested with thrombocytopenia (low platelets count) and anemia. METHODS:Genetic linkage analysis, exome sequencing, and functional genomics were carried out to identify and characterize the...

    journal_title:European journal of haematology

    pub_type: 杂志文章

    doi:10.1111/ejh.12819

    authors: Melhem M,Abu-Farha M,Antony D,Madhoun AA,Bacchelli C,Alkayal F,AlKhairi I,John S,Alomari M,Beales PL,Alsmadi O

    更新日期:2017-03-01 00:00:00

  • Effective treatment and prophylaxis of hyperuricemia and impaired renal function in tumor lysis syndrome with low doses of rasburicase.

    abstract:BACKGROUND:Tumor lysis syndrome (TLS) is a complication that can cause renal failure by precipitation of uric acid (UA) and phosphate crystals in renal tubules. Rasburicase proved to be effective in rapidly reducing UA levels. Costs of rasburicase average up to 4500 euros. To assess if lower doses of rasburicase are ef...

    journal_title:European journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1600-0609.2007.01013.x

    authors: Hummel M,Reiter S,Adam K,Hehlmann R,Buchheidt D

    更新日期:2008-04-01 00:00:00

  • Acute renal failure associated with haematological malignancies: a review of 10 years experience.

    abstract::Patients with ARF and haematological malignancy (excluding myeloma), presenting to a single unit over 10 years were analyzed to see if patients likely to benefit from intensive renal supportive therapy could be identified. 31 episodes of ARF were identified in 29 patients (mean age 51 +/- 2.9 yr): 19 were associated w...

    journal_title:European journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1600-0609.1991.tb00133.x

    authors: Harris KP,Hattersley JM,Feehally J,Walls J

    更新日期:1991-08-01 00:00:00

  • Intracellular HMGB1 transactivates the human IL1B gene promoter through association with an Ets transcription factor PU.1.

    abstract::High mobility group box 1 protein (HMGB1), originally described as a non-histone, DNA binding protein, was recently identified as a late mediator of inflammation via its extracellular release from activated macrophages/monocytes. In the present study, we report that intracellular HMGB1 synergizes with a macrophage/mon...

    journal_title:European journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1600-0609.2007.00981.x

    authors: Mouri F,Tsukada J,Mizobe T,Higashi T,Yoshida Y,Minami Y,Izumi H,Kominato Y,Kohno K,Tanaka Y

    更新日期:2008-01-01 00:00:00

  • Treatment of acute lymphoblastic leukaemia (ALL).

    abstract::Forty-six consecutive patients with acute lymphoblastic leukaemia (ALL), having a median age of 23 years (range 14 to 64), underwent induction and consolidation chemotherapy with weekly parenteral vincristine, adriamycin, l-asparaginase and daily oral prednisone (VAAP), followed by standard central nervous system (CNS...

    journal_title:European journal of haematology

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1111/j.1600-0609.1992.tb00030.x

    authors: Jacobs P,Wood L

    更新日期:1992-08-01 00:00:00

  • Sivelestat relieves respiratory distress refractory to dexamethasone in all-trans retinoic acid syndrome: a report of two cases.

    abstract::Treatment with all-trans retinoic acid (ATRA) improves the prognosis of patients with acute promyelocytic leukemia (APL), but ATRA syndrome may occur as a possible fatal side effect, especially in cases refractory to medication or involving pulmonary hemorrhage. We describe two patients with APL who suffered from intr...

    journal_title:European journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.0902-4441.2006.t01-1-EJH2852.x

    authors: Kawasaki K,Akaike H,Miyauchi A,Ouchi K

    更新日期:2006-11-01 00:00:00

  • Treatment of consecutive patients with chronic myeloid leukaemia in the cooperating centres from the Czech Republic and the whole of Slovakia after 2000--a report from the population-based CAMELIA Registry.

    abstract:BACKGROUND:Most results on the treatment of chronic myeloid leukaemia (CML) with imatinib were obtained from clinical trials that may differ from the routine practice. We report the results of treatment of consecutive patients with CML at ten major centres during 2000-2008. PATIENTS AND METHODS:Data reporting was retr...

    journal_title:European journal of haematology

    pub_type: 杂志文章,多中心研究

    doi:10.1111/j.1600-0609.2011.01637.x

    authors: Faber E,Mužík J,Koza V,Demečková E,Voglová J,Demitrovičová L,Chudej J,Markuljak I,Cmunt E,Kozák T,Tóthová E,Jarošová M,Dušek L,Indrák K

    更新日期:2011-08-01 00:00:00

  • Interferon alpha-2 for hairy cell leukemia: evidence for induction of RNA synthesis in hairy cells and failure to correlate enhancement of natural killer cells with elimination of hairy cells.

    abstract::The effect of human recombinant interferon alpha 2 (IFN alpha 2) on hairy cells obtained from 16 patients was evaluated. All patients promptly responded to induction of remission with 2 X 10(6) U/m2 interferon alpha 2 b, three times a week, sc. In order to achieve a more detailed insight into the mode of action of int...

    journal_title:European journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1600-0609.1987.tb01449.x

    authors: Schwarzmeier JD,Schwabe M,Prischl F,Wagner L,Lion T,Micksche M,Köller U

    更新日期:1987-11-01 00:00:00

  • Cryopreservation of the bone marrow from patients with acute myeloid leukaemia leads to functional abnormalities.

    abstract::We compared the performance of the stroma (SL) and haematopoietic progenitors before (group A) or following cryopreservation from patients in complete remission (CR) of acute myeloid leukaemia before autologous transplantation (AML) (group B), to similarly treated normal cells (groups A and B). From each group, fibrob...

    journal_title:European journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1600-0609.1999.tb01726.x

    authors: Novitzky N,Kruger W,Mohamed R

    更新日期:1999-02-01 00:00:00