Hemojuvelin (HJV)-associated hemochromatosis: analysis of HJV and HFE mutations and iron overload in three families.

Abstract:

:Juvenile hemochromatosis is a severe form of hereditary iron overload. It can be caused by mutations in either hepcidin or hemojuvelin genes. In this study we identified the molecular basis of juvenile hemochromatosis in three Australian families and assessed the role of potential modifying genes in individuals carrying HFE mutations.

journal_name

Haematologica

journal_title

Haematologica

authors

Wallace DF,Dixon JL,Ramm GA,Anderson GJ,Powell LW,Subramaniam N

keywords:

subject

Has Abstract

pub_date

2005-02-01 00:00:00

pages

254-5

issue

2

eissn

0390-6078

issn

1592-8721

journal_volume

90

pub_type

信件
  • Italian blood donors with anti-HBc and occult hepatitis B virus infection.

    abstract:BACKGROUND AND OBJECTIVES:Occult hepatitis B virus (HBV) infection might allow the release of viremic units into the blood supply network if blood is tested only for hepatitis B surface antigen (HBsAg). The aim of our study was to evaluate the actual prevalence, viral load and genotype of occult HBV infections among fi...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:10.3324/haematol.11224

    authors: Manzini P,Girotto M,Borsotti R,Giachino O,Guaschino R,Lanteri M,Testa D,Ghiazza P,Vacchini M,Danielle F,Pizzi A,Valpreda C,Castagno F,Curti F,Magistroni P,Abate ML,Smedile A,Rizzetto M

    更新日期:2007-12-01 00:00:00

  • Intensive polychemotherapy experience in chronic myeloid leukaemia.

    abstract::A pilot study, testing two different chemotherapeutic schedules in CML patients, was carried out in order to verify the possibility of Ph1 clone disappearance. Both therapeutic regimens, though able to induce severe marrow aplasia, determined only a reduction of Ph1 positive metaphases in two patients, while in one ca...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:

    authors: Centurioni R,Leoni P,Russo D,Brianzoni MF,Montillo M,Baccarani M,Tura S

    更新日期:1989-09-01 00:00:00

  • Early hematopoietic recovery after single unit unrelated cord blood transplantation in adults supported by co-infusion of mobilized stem cells from a third party donor.

    abstract:BACKGROUND AND OBJECTIVES:Our objective was to improve the outcome of cord blood (CB) transplantation in adults, by overcoming the limitations imposed by the low number of stem cells present in CB units. DESIGN AND METHODS:We combined single CB units and co-infusion of third party donor (TPD)-derived peripheral blood ...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:

    authors: Magro E,Regidor C,Cabrera R,Sanjuán I,Forès R,Garcia-Marco JA,Ruiz E,Gil S,Bautista G,Millán I,Madrigal A,Fernandez MN

    更新日期:2006-05-01 00:00:00

  • Immunophenotypic characterization of reactive and neoplastic plasmacytoid dendritic cells permits establishment of a 10-color flow cytometric panel for initial workup and residual disease evaluation of blastic plasmacytoid dendritic cell neoplasm.

    abstract::Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare hematopoietic neoplasm whose immunophenotype remains incompletely characterized, particularly in terms of distinction from reactive plasmacytoid dendritic cells (PDCs). This limitation complicates detection of low-level involvement by BPDCN as well as mini...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:10.3324/haematol.2020.247569

    authors: Wang W,Khoury JD,Miranda RN,Jorgensen JL,Xu J,Loghavi S,Li S,Pemmaraju N,Nguyen T,Medeiros LJ,Wang SA

    更新日期:2020-04-02 00:00:00

  • Density, heterogeneity and deformability of red cells as markers of clinical severity in hereditary spherocytosis.

    abstract::Hereditary spherocytosis (HS) originates from defective anchoring of the cytoskeletal network to the transmembrane protein complexes of the red blood cell (RBC). Red cells in HS are characterized by membrane instability and reduced deformability and there is marked heterogeneity in disease severity among patients. To ...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:10.3324/haematol.2018.188151

    authors: Huisjes R,Makhro A,Llaudet-Planas E,Hertz L,Petkova-Kirova P,Verhagen LP,Pignatelli S,Rab MAE,Schiffelers RM,Seiler E,van Solinge WW,Corrons JV,Kaestner L,Mañú-Pereira M,Bogdanova A,van Wijk R

    更新日期:2020-01-31 00:00:00

  • Double versus single autotransplantation in multiple myeloma; a single center experience of 100 patients.

    abstract::One hundred patients with newly diagnosed multiple myeloma (MM) were treated with high-dose chemotherapy followed by single or double autologous stem cell transplantation (ASCT). Up-front treatment with a double ASCT tended to prolong progression-free and overall survival. ...

    journal_title:Haematologica

    pub_type: 信件

    doi:

    authors: Putkonen M,Rauhala A,Itälä M,Kauppila M,Pelliniemi TT,Remes K

    更新日期:2005-04-01 00:00:00

  • Adding lomustine to idarubicin and cytarabine for induction chemotherapy in older patients with acute myeloid leukemia: the BGMT 95 trial results.

    abstract:BACKGROUND AND OBJECTIVES:Treatment of acute myeloid leukemia (AML) in older patients remains unsatisfactory. The BGMT 95 trial for older patients set out to improve the outcome of these patients by adding a third drug (lomustine) to a 5+7 idarubicin and cytarabine schedule at induction and evaluating intermediate-dose...

    journal_title:Haematologica

    pub_type: 杂志文章,多中心研究,随机对照试验

    doi:10.3324/haematol.11068

    authors: Pigneux A,Perreau V,Jourdan E,Vey N,Dastugue N,Huguet F,Sotto JJ,Salmi LR,Ifrah N,Reiffers J

    更新日期:2007-10-01 00:00:00

  • Survival for older patients with acute myeloid leukemia: a population-based study.

    abstract:BACKGROUND:Acute myeloid leukemia is the second most common leukemia among United States adults with a median age of 69 years. We investigated recent clinical practices related to treatments and disease outcomes in older patients with acute myeloid leukemia in the United States. DESIGN AND METHODS:In this retrospectiv...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:10.3324/haematol.2012.066100

    authors: Oran B,Weisdorf DJ

    更新日期:2012-12-01 00:00:00

  • Angiotensin-(1-7) stimulates hematopoietic progenitor cells in vitro and in vivo.

    abstract::Effects of angiotensin (Ang)-(1-7), an AngII metabolite, on bone marrow-derived hematopoietic cells were studied. We identified Ang-(1-7) to stimulate proliferation of human CD34(+) and mononuclear cells in vitro. Under in vivo conditions, we monitored proliferation and differentiation of human cord blood mononuclear ...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:10.3324/haematol.2008.000034

    authors: Heringer-Walther S,Eckert K,Schumacher SM,Uharek L,Wulf-Goldenberg A,Gembardt F,Fichtner I,Schultheiss HP,Rodgers K,Walther T

    更新日期:2009-06-01 00:00:00

  • Enhanced alternative splicing of the FLVCR1 gene in Diamond Blackfan anemia disrupts FLVCR1 expression and function that are critical for erythropoiesis.

    abstract:BACKGROUND:Diamond-Blackfan anemia is a fatal congenital anemia characterized by a specific disruption in erythroid progenitor cell development. Approximately 25% of patients have mutations in the ribosomal protein RPS19 suggesting that Diamond-Blackfan anemia may be caused by a defect in ribosome biogenesis and transl...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:10.3324/haematol.13359

    authors: Rey MA,Duffy SP,Brown JK,Kennedy JA,Dick JE,Dror Y,Tailor CS

    更新日期:2008-11-01 00:00:00

  • Definition of bulky disease in early stage Hodgkin lymphoma in computed tomography era: prognostic significance of measurements in the coronal and transverse planes.

    abstract::Disease bulk is an important prognostic factor in early stage Hodgkin lymphoma, but its definition is unclear in the computed tomography era. This retrospective analysis investigated the prognostic significance of bulky disease measured in transverse and coronal planes on computed tomography imaging. Early stage Hodgk...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:10.3324/haematol.2016.141846

    authors: Kumar A,Burger IA,Zhang Z,Drill EN,Migliacci JC,Ng A,LaCasce A,Wall D,Witzig TE,Ristow K,Yahalom J,Moskowitz CH,Zelenetz AD

    更新日期:2016-10-01 00:00:00

  • High dose chemotherapy and autologous stem cell transplantation in patients with peripheral T-cell lymphoma not achieving complete response after induction chemotherapy. The GEL-TAMO experience.

    abstract:BACKGROUND AND OBJECTIVES:Patients with aggressive non-Hodgkin's lymphomas (NHL) who do not obtain a complete response (CR) after induction chemotherapy have a poor prognosis. However, provided they are sensitive to the first regimen of chemotherapy, 25-40% of them with a B-cell phenotype may achieve long-term survival...

    journal_title:Haematologica

    pub_type: 杂志文章,多中心研究

    doi:

    authors: Rodriguez J,Caballero MD,Gutierrez A,Gandarillas M,Sierra J,Lopez-Guillermo A,Sureda A,Zuazu J,Marin J,Arranz R,Carreras E,Leon A,De Sevilla AF,San Miguel JF,Conde E,GEL\/TAMO Spanish Group.

    更新日期:2003-12-01 00:00:00

  • In vivo and in vitro sensitivity of blastic plasmacytoid dendritic cell neoplasm to SL-401, an interleukin-3 receptor targeted biologic agent.

    abstract::Blastic plasmacytoid dendritic cell neoplasm is an aggressive malignancy derived from plasmacytoid dendritic cells. There is currently no accepted standard of care for treating this neoplasm, and therapeutic strategies have never been prospectively evaluated. Since blastic plasmacytoid dendritic cell neoplasm cells ex...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:10.3324/haematol.2014.111740

    authors: Angelot-Delettre F,Roggy A,Frankel AE,Lamarthee B,Seilles E,Biichle S,Royer B,Deconinck E,Rowinsky EK,Brooks C,Bardet V,Benet B,Bennani H,Benseddik Z,Debliquis A,Lusina D,Roussel M,Solly F,Ticchioni M,Saas P,Garna

    更新日期:2015-02-01 00:00:00

  • Resistance to activated protein C as a risk factor of stroke in a thalassemic patient.

    abstract::It is well known that thalassemic patients exhibit an increased frequency of thrombotic events. Most individuals with resistance to activated protein C (APCR) are the result of a point mutation replacing Arg 506 with Gln in the factor V aminoacidic sequence (factor V Leiden). Recently APCR has been shown to account fo...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:

    authors: Giordano P,Sabato V,Schettini F,De Mattia D,Iolascon A

    更新日期:1997-11-01 00:00:00

  • Salvage treatment with lenalidomide and dexamethasone in relapsed/refractory mantle cell lymphoma: clinical results and effects on microenvironment and neo-angiogenic biomarkers.

    abstract:BACKGROUND:Preclinical studies have highlighted the activity of lenalidomide in mantle cell lymphoma and its anti-proliferative synergy with dexamethasone. DESIGN AND METHODS:In this prospective, multicenter, phase II study, patients with relapsed/refractory mantle cell lymphoma who were not eligible for, or had relap...

    journal_title:Haematologica

    pub_type: 杂志文章,多中心研究

    doi:10.3324/haematol.2011.051813

    authors: Zaja F,De Luca S,Vitolo U,Orsucci L,Levis A,Salvi F,Rusconi C,Ravelli E,Tucci A,Bottelli C,Balzarotti M,Brusamolino E,Bonfichi M,Pileri SA,Sabattini E,Volpetti S,Monagheddu C,Vacca A,Ria R,Fanin R

    更新日期:2012-03-01 00:00:00

  • Leukemia-free survival as a surrogate end point for overall survival in the evaluation of maintenance therapy for patients with acute myeloid leukemia in complete remission.

    abstract:BACKGROUND:In trials designed to evaluate new therapies for hematologic malignancies, end points such as leukemia-free survival are often used as surrogates for overall survival in acute leukemia. We aimed to assess whether leukemia-free survival is an acceptable statistical surrogate for overall survival when applied ...

    journal_title:Haematologica

    pub_type: 杂志文章,随机对照试验

    doi:10.3324/haematol.2010.039131

    authors: Buyse M,Michiels S,Squifflet P,Lucchesi KJ,Hellstrand K,Brune ML,Castaigne S,Rowe JM

    更新日期:2011-08-01 00:00:00

  • Clinical outcomes in children with sickle cell disease living in England: a neonatal cohort in East London.

    abstract:BACKGROUND AND OBJECTIVES:We investigated outcomes in a UK neonatal cohort as a benchmark for care of children with sickle cell disease (SCD). DESIGN AND METHODS:Two-hundred and fifty-two children (180 with hemoglobin [Hb] SS, 64 with HbSC, and 8 with HbS/beta thalassemia), identified during 1983-2005 by universal bir...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:10.3324/haematol.10937

    authors: Telfer P,Coen P,Chakravorty S,Wilkey O,Evans J,Newell H,Smalling B,Amos R,Stephens A,Rogers D,Kirkham F

    更新日期:2007-07-01 00:00:00

  • High cure rates in Burkitt lymphoma and leukemia: a Northern Italy Leukemia Group study of the German short intensive rituximab-chemotherapy program.

    abstract::We evaluate the long-term results of a prospective clinical study enrolling more than 100 adult patients with Burkitt lymphoma/leukemia. Depending on extent of disease, treatment consisted of six to eight rituximab infusions and four to six courses of intensive chemotherapy (attenuated in patients aged >55 years) with...

    journal_title:Haematologica

    pub_type: 临床试验,杂志文章,多中心研究

    doi:10.3324/haematol.2013.086827

    authors: Intermesoli T,Rambaldi A,Rossi G,Delaini F,Romani C,Pogliani EM,Pagani C,Angelucci E,Terruzzi E,Levis A,Cassibba V,Mattei D,Gianfaldoni G,Scattolin AM,Di Bona E,Oldani E,Parolini M,Gökbuget N,Bassan R

    更新日期:2013-11-01 00:00:00

  • Limited value of FLT3 mRNA expression in the bone marrow for prognosis and monitoring of patients with acute myeloid leukemia.

    abstract::We studied wild-type FLT3 mRNA expression at diagnosis in bone marrow samples from 85 patients with acute myeloid leukemia (AML), 23 of whom were in complete remission, and determined its utility as a marker for minimal residual disease (MRD). We conclude that FLT3 expression is of limited value as a prognostic marker...

    journal_title:Haematologica

    pub_type: 信件

    doi:

    authors: Kainz B,Fonatsch C,Schwarzinger I,Sperr WR,Jäger U,Gaiger A

    更新日期:2005-05-01 00:00:00

  • Trypsin-encoding PRSS1-PRSS2 variations influence the risk of asparaginase-associated pancreatitis in children with acute lymphoblastic leukemia: a Ponte di Legno toxicity working group report.

    abstract::Asparaginase-associated pancreatitis is a life-threatening toxicity to childhood acute lymphoblastic leukemia treatment. To elucidate genetic predisposition and asparaginase-associated pancreatitis pathogenesis, ten trial groups contributed remission samples from patients aged 1.0-17.9 years treated for acute lymphobl...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:10.3324/haematol.2018.199356

    authors: Wolthers BO,Frandsen TL,Patel CJ,Abaji R,Attarbaschi A,Barzilai S,Colombini A,Escherich G,Grosjean M,Krajinovic M,Larsen E,Liang DC,Möricke A,Rasmussen KK,Samarasinghe S,Silverman LB,van der Sluis IM,Stanulla M,Tulstr

    更新日期:2019-03-01 00:00:00

  • Hematocrit and risk of venous thromboembolism in a general population. The Tromso study.

    abstract:BACKGROUND:Hematocrit above the normal range for the population, such as in primary or secondary erythrocytosis, predisposes to both arterial and venous thrombosis. However, little is known about the association between hematocrit and risk of venous thromboembolism in a general population. DESIGN AND METHODS:Hematocri...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:10.3324/haematol.2009.008417

    authors: Braekkan SK,Mathiesen EB,Njølstad I,Wilsgaard T,Hansen JB

    更新日期:2010-02-01 00:00:00

  • Erythropoietin: biological aspects and clinical usefulness.

    abstract::In the eighties there has been an enormous increase in our knowledge about erythropoietin, previously defined as "an elusive hormone". In this review we summarize the structural and molecular features, the mechanisms of production and of metabolism, the more important methods of assay, the mechanism of action and the ...

    journal_title:Haematologica

    pub_type: 杂志文章,评审

    doi:

    authors: Liberato NL,Costa A,Barosi G

    更新日期:1990-07-01 00:00:00

  • The outcome of peripheral T-cell lymphoma patients failing first-line therapy: a report from the prospective, International T-Cell Project.

    abstract::This analysis explored factors influencing survival of patients with primary refractory and relapsed peripheral T-cell lymphomas enrolled in the prospective International T-cell Project. We analyzed data from 1020 patients with newly diagnosed disease, enrolled between September 2006 and December 2015. Out of 937 pati...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:10.3324/haematol.2017.186577

    authors: Bellei M,Foss FM,Shustov AR,Horwitz SM,Marcheselli L,Kim WS,Cabrera ME,Dlouhy I,Nagler A,Advani RH,Pesce EA,Ko YH,Martinez V,Montoto S,Chiattone C,Moskowitz A,Spina M,Biasoli I,Manni M,Federico M,International T-c

    更新日期:2018-07-01 00:00:00

  • Chimerism status is a useful predictor of relapse after allogeneic stem cell transplantation for acute leukemia.

    abstract:BACKGROUND AND OBJECTIVES:The role of hematopoietic chimerism after allogeneic stem cell transplantation (SCT) for acute leukemia remains controversial. We studied the relationship between hematopoietic chimerism and several prognostic variables on the outcome of SCT in patients with acute leukemia. DESIGN AND METHODS...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:

    authors: Barrios M,Jiménez-Velasco A,Román-Gómez J,Madrigal ME,Castillejo JA,Torres A,Heiniger A

    更新日期:2003-07-01 00:00:00

  • Primary lymphoma of the vagina. A case report.

    abstract::Primary vaginal non-Hodgkin lymphoma is really uncommon and may be misdiagnosed as inflammatory disease or solid cancer, so careful diagnostic procedures are needed, particularly as far as pathological and immunocytochemical evaluation is concerned. Most of these lymphomas present with follicular patterns and limited ...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:

    authors: Lonardi F,Ferrari V,Pavanato G,Bonciarelli G,Jirillo A,Balli M

    更新日期:1994-03-01 00:00:00

  • Quantitatively different red cell/nucleated cell chimerism in patients with long-term, persistent hematopoietic mixed chimerism after bone marrow transplantation for thalassemia major or sickle cell disease.

    abstract:BACKGROUND:Persistent mixed chimerism represents a state in which recipient and donor cells stably co-exist after hematopoietic stem cell transplantation. However, since in most of the studies reported in literature the engraftment state was observed in the nucleated cells, in this study we determined the donor origin ...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:10.3324/haematol.2010.031013

    authors: Andreani M,Testi M,Gaziev J,Condello R,Bontadini A,Tazzari PL,Ricci F,De Felice L,Agostini F,Fraboni D,Ferrari G,Battarra M,Troiano M,Sodani P,Lucarelli G

    更新日期:2011-01-01 00:00:00

  • Alpha(v)beta(3) integrin engagement enhances cell invasiveness in human multiple myeloma.

    abstract:BACKGROUND AND OBJECTIVES:In multiple myeloma (MM), the mechanisms used by plasma cells to invade locally and metastasize are thought to be similar to those developed by solid tumors and include cell proliferation and secretion of extracellular matrix (ECM) degrading enzymes following adhesion to ECM proteins. We studi...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:

    authors: Ria R,Vacca A,Ribatti D,Di Raimondo F,Merchionne F,Dammacco F

    更新日期:2002-08-01 00:00:00

  • 1,25-Dihydroxyvitamin D3 in the treatment of idiopathic thrombocythemia and myelofibrosis.

    abstract::The effect of treatment with 1,25-dihydroxyvitamin D3 administered at the dose of 1.50-3.00 ug/day for at least 12 months was evaluated in three patients with idiopathic myelofibrosis and in five patients with idiopathic thrombocythemia. This treatment did not cause any significant change in the hematological values o...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:

    authors: Foa P,Maiolo AT,Cortellaro M,Ortolani S,Pogliani E,Deliliers GL,Iurlo A,Zocchi L,Gualdoni A,Polli E

    更新日期:1990-05-01 00:00:00

  • Defining the dose of gemtuzumab ozogamicin in combination with induction chemotherapy in acute myeloid leukemia: a comparison of 3 mg/m2 with 6 mg/m2 in the NCRI AML17 Trial.

    abstract::Arecent source data meta-analysis of randomized trials in adults assessing the immunoconjugate gemtuzumab ozogamicin combined with standard chemotherapy in acute myeloid leukemia showed a significant survival benefit in patients without an adverse karyotype. It is not clear whether the optimal dose should be 3 mg/m(2)...

    journal_title:Haematologica

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.3324/haematol.2016.141937

    authors: Burnett A,Cavenagh J,Russell N,Hills R,Kell J,Jones G,Nielsen OJ,Khwaja A,Thomas I,Clark R,UK NCRI AML Study Group.

    更新日期:2016-06-01 00:00:00

  • Heterogeneous breakpoints in patients with acute lymphoblastic leukemia and the dic(9;20)(p11-13;q11) show recurrent involvement of genes at 20q11.21.

    abstract::The dic(9;20)(p11-13;q11) is a recurrent chromosomal abnormality in patients with acute lymphoblastic leukemia. Although it results in loss of material from 9p and 20q, the molecular targets on both chromosomes have not been fully elucidated. From an initial cohort of 58 with acute lymphoblastic leukemia patients with...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:10.3324/haematol.2008.002808

    authors: An Q,Wright SL,Moorman AV,Parker H,Griffiths M,Ross FM,Davies T,Harrison CJ,Strefford JC

    更新日期:2009-08-01 00:00:00