当前位置： SCI文献检索 > HAEMATOLOGICA期刊下所有文献 > Recurrent mutations in the iron regulatory element of L-ferritin in hereditary hyperferritinemia-cataract syndrome.

Recurrent mutations in the iron regulatory element of L-ferritin in hereditary hyperferritinemia-cataract syndrome.

Abstract：

BACKGROUND AND OBJECTIVE:Hereditary hyperferritinemia-cataract syndrome (HHCS) is an autosomal dominant disorder characterized by bilateral cataracts and increased serum and tissue L-ferritin, in the absence of iron overload. The deregulation of ferritin production is caused by heterogeneous mutations in the iron regulatory element (IRE) of L-ferritin that interfere with the binding of iron regulatory proteins. DESIGN AND METHODS:We have identified several patients from three unrelated Italian families with HHCS. Iron parameters were assessed by standard methods. The IRE element of L-ferritin was amplified by PCR using appropriate primers and directly sequenced. RESULTS:Ferritin levels ranged from 918 microg/L to 2490 microg/L in the patients studied. In one family bilateral cataracts were diagnosed early in life, whereas in the others cataracts were diagnosed around 40-50 years. The female proband of family 3 presented with a severe iron deficiency anemia, which was unrecognized because of the increased ferritin values. Sequencing of the IRE element of L-ferritin in the probands of the three families identified three different nucleotide substitutions (+32 GAE A, +40 AAE G and +39 CT) in the IRE of L-ferritin. These mutations have already been reported in unrelated subjects of different ethnic origins. INTERPRETATION AND CONCLUSIONS:Our findings are consistent with recurrent mutations associated with HHCS and underline the importance of this syndrome in the differential diagnosis of unexplained hyperferritinemia. In addition, the findings highlight the role played by transferrin saturation in the diagnosis of iron deficiency in these patients.

journal_name

Haematologica

journal_title

Haematologica

authors

Cicilano M,Zecchina G,Roetto A,Bosio S,Infelise V,Stefani S,Mazza U,Camaschella C

keywords:

subject

Has Abstract

pub_date

1999-06-01 00:00:00

pages

489-92

issue

6

eissn

0390-6078

issn

1592-8721

journal_volume

84

pub_type

杂志文章

相关文献

HAEMATOLOGICA文献大全
  • The association of cyclophosphamide and dexamethasone in advanced refractory multiple myeloma patients.

    abstract：:VAD is the most active regimen in refractory myeloma patients; however, the role of vincristine and doxorubicin remains unclear. Relatively high doses of cyclophosphamide (3.6 g/sqm) increased the response rate and survival in resistant MM. Cyclophosphamide and dexamethasone were administered to 28 patients with advan...

    journal_title：Haematologica

    pub_type： 临床试验,杂志文章,多中心研究

    doi：

    authors： Celesti L,Clavio M,Poggi A,Casciaro S,Vallebella E,Gobbi M

    更新日期：1997-05-01 00:00:00

  • Apolipoprotein E gene polymorphism and left ventricular function in Iranian patients with thalassemia major.

    abstract：:Left ventricular (LV) failure is the main cause of death in thalassemia. Iron overload in patients with thalassemia leads to the formation of oxygen free radicals. Of the various apolipoprotein E (apoE) alleles, apoE4 is the least efficient in conditions of oxidative stress in comparison with apoE2 and apoE3. Our resu...

    journal_title：Haematologica

    pub_type： 信件

    doi：10.3324/haematol.10708

    authors： Bazrgar M,Karimi M,Peiravian F,Fathzadeh M

    更新日期：2007-02-01 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

  • Hepatic response after high-dose melphalan and stem cell transplantation in patients with AL amyloidosis associated liver disease.

    abstract：:High-dose melphalan chemotherapy and autologous peripheral blood stem cell transplantation has been shown to result in durable hematologic response and prolonged overall survival in systemic AL amyloidosis. In this retrospective study, we evaluated clinical and hematologic responses in 69 patients with predominant liv...

    journal_title：Haematologica

    pub_type： 杂志文章

    doi：10.3324/haematol.2008.001925

    authors： Girnius S,Seldin DC,Skinner M,Finn KT,Quillen K,Doros G,Sanchorawala V

    更新日期：2009-07-01 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

  • Identification of a novel PROS1 c.1113T-->GG frameshift mutation in a family with mixed type I/type III protein S deficiency.

    abstract：:We report a family with type I and type III protein S (PS) deficiency, which showed to be phenotypic variants of the same genetic disease. Direct sequencing analysis of the PROS1 gene was performed to establish the genotype. The ratio of protein C antigen and total PS antigen levels (protein C/S ratio) was used to cla...

    journal_title：Haematologica

    pub_type： 信件

    doi：

    authors： ten Kate MK,Mulder R,Platteel M,Brouwer JL,van der Steege G,van der Meer J

    更新日期：2006-08-01 00:00:00

  • Prevalence and patterns of symptomatic thromboembolism in oncohematology.

    abstract：BACKGROUND AND OBJECTIVE:Approximately 15% of patients with cancer will experience a thrombotic episode at some time. Some patients are at particularly high risk depending on the histology of the malignant disease. The aim of the study was to determine the actual prevalence of thrombotic episodes in oncohematologic pat...

    journal_title：Haematologica

    pub_type： 杂志文章

    doi：

    authors： Sgarabotto D,Prandoni P,Stefani PM,Scano F,Vianello F,Sartori R,Pietrogrande F,Caenazzo A,Girolami A

    更新日期：1998-05-01 00:00:00

  • Classical Hodgkin's lymphoma shows epigenetic features of abortive plasma cell differentiation.

    abstract：BACKGROUND:Epigenetic changes are involved in the extinction of the B-cell gene expression program of classical Hodgkin's lymphoma. However, little is known regarding epigenetic similarities between cells of classical Hodgkin's lymphoma and plasma cell myeloma, both of which share extinction of the gene expression prog...

    journal_title：Haematologica

    pub_type： 杂志文章

    doi：10.3324/haematol.2010.031138

    authors： Seitz V,Thomas PE,Zimmermann K,Paul U,Ehlers A,Joosten M,Dimitrova L,Lenze D,Sommerfeld A,Oker E,Leser U,Stein H,Hummel M

    更新日期：2011-06-01 00:00:00

  • Lenalidomide plus cyclophosphamide, doxorubicin, vincristine, prednisone and rituximab is safe and effective in untreated, elderly patients with diffuse large B-cell lymphoma: a phase I study by the Fondazione Italiana Linfomi.

    abstract：:Despite improvements in standard therapy with rituximab, cyclophosphamide, doxorubicin, vincristine and prednisone for patients with untreated, diffuse large B-cell lymphoma, up to 40% of these patients relapse. Lenalidomide alone or in combination with rituximab has been shown to be active in relapsed/refractory aggr...

    journal_title：Haematologica

    pub_type： 杂志文章,多中心研究

    doi：10.3324/haematol.2013.085134

    authors： Chiappella A,Tucci A,Castellino A,Pavone V,Baldi I,Carella AM,Orsucci L,Zanni M,Salvi F,Liberati AM,Gaidano G,Bottelli C,Rossini B,Perticone S,De Masi P,Ladetto M,Ciccone G,Palumbo A,Rossi G,Vitolo U,Fondazione It

    更新日期：2013-11-01 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

  • Downregulation of TREM-like transcript-1 and collagen receptor α2 subunit, two novel RUNX1-targets, contributes to platelet dysfunction in familial platelet disorder with predisposition to acute myelogenous leukemia.

    abstract：:Germline RUNX1 mutations lead to thrombocytopenia and platelet dysfunction in familial platelet disorder with predisposition to acute myelogenous leukemia (AML). Multiple aspects of platelet function are impaired in these patients, associated with altered expression of genes regulated by RUNX1 We aimed to identify RUN...

    journal_title：Haematologica

    pub_type： 杂志文章

    doi：10.3324/haematol.2018.188904

    authors： Glembotsky AC,Sliwa D,Bluteau D,Balayn N,Marin Oyarzún CP,Raimbault A,Bordas M,Droin N,Pirozhkova I,Washington V,Goette NP,Marta RF,Favier R,Raslova H,Heller PG

    更新日期：2019-06-01 00:00:00

  • Epidoxorubicin vs idarubicin containing regimens in intermediate and high grade non-Hodgkin's lymphoma: preliminary results of a multicentric randomized trial.

    abstract：BACKGROUND:In recent years many therapeutic regimens have been designed in order to improve response rate and response duration in non-Hodgkin's lymphoma (NHL). In 1991 the Italian Lymphoma Study Group (GISL) started a prospective randomized trial on treatment of aggressive and advanced NHL, focused on the efficacy of ...

    journal_title：Haematologica

    pub_type： 临床试验,杂志文章,多中心研究,随机对照试验

    doi：

    authors： Brugiatelli M,Federico M,Gobbi PG,Avanzini P,Callea V,Cavanna L,De Pasquale A,Di Prisco AU,Di Rienzo N,Silingardi V

    更新日期：1993-09-01 00:00:00

  • Incidence and clinicopathological heterogeneity of HIV-related non-Hodgkin's lymphoma.

    abstract：:The characteristics of 14 HIV-seropositive patients with NHL consecutively observed between 1984 and 1988 at our Institution are described. Patients belonged to a known population of 1242 HIV-seropositive individuals in whom the incidence of NHL was 1.13%, significantly higher than in age-matched controls (P less than...

    journal_title：Haematologica

    pub_type： 杂志文章

    doi：

    authors： Rossi G,Cadeo G,Stellini R,Zorzi F,Favret M,Sueri L,Carosi G,Mariano M,Marinone G

    更新日期：1990-05-01 00:00:00

  • Fludarabine and cytarabine as continuous sequential infusion for elderly patients with acute myeloid leukemia.

    abstract：BACKGROUND AND OBJECTIVES:A phase II study was conducted to investigate the effects of a therapeutic program based on the combination of fludarabine and cytarabine (ARA-C) administered as a sequential continuous infusion in untreated elderly patients with acute myeloid leukemia (AML). DESIGN AND METHODS:Sixty-three pa...

    journal_title：Haematologica

    pub_type： 杂志文章

    doi：

    authors： Ferrara F,D'Arco AM,De Simone M,Mele G,Califano C,Pocali B,Danise P,Palmieri S

    更新日期：2005-06-01 00:00:00

  • Comparison of CD38 antibodies in vitro and ex vivo mechanisms of action in multiple myeloma.

    abstract：:Not available. ...

    journal_title：Haematologica

    pub_type： 杂志文章

    doi：10.3324/haematol.2020.268656

    authors： Kinder M,Bahlis NJ,Malavasi F,De Goeij B,Babich A,Sendecki J,Rusbuldt J,Bellew K,Kane C,Van de Donk NWCJ

    更新日期：2021-01-14 00:00:00

  • Detection of minimal residual disease in unselected patients with acute myeloid leukemia using multiparameter flow cytometry for definition of leukemia-associated immunophenotypes and determination of their frequencies in normal bone marrow.

    abstract：BACKGROUND AND OBJECTIVES:Detection of minimal residual disease (MRD) by multiparameter flow cytometry is an emerging prognostic factor in patients with acute myeloid leukemia (AML). The present analysis aimed at improving the applicability of this approach to more patients with AML. DESIGN AND METHODS:Bone marrow sam...

    journal_title：Haematologica

    pub_type： 杂志文章

    doi：

    authors： Kern W,Danhauser-Riedl S,Ratei R,Schnittger S,Schoch C,Kolb HJ,Ludwig WD,Hiddemann W,Haferlach T

    更新日期：2003-06-01 00:00:00

  • Patient-derived anti-β2GP1 antibodies recognize a peptide motif pattern and not a specific sequence of residues.

    abstract：:Antiphospholipid antibody syndrome is an autoimmune disease characterized by the presence of so-called antiphospholipid antibodies and clinical manifestations such as recurrent thromboembolic or pregnancy complications. Although the main antigenic determinant for antiphospholipid antibodies has been identified as the ...

    journal_title：Haematologica

    pub_type： 杂志文章

    doi：10.3324/haematol.2017.170381

    authors： de Moerloose P,Fickentscher C,Boehlen F,Tiercy JM,Kruithof EKO,Brandt KJ

    更新日期：2017-08-01 00:00:00

  • Multilineage engraftment of refrozen cord blood hematopoietic progenitors in NOD/SCID mice.

    abstract：:Seven cord blood (CB) units were tested for their capacity to repopulate irradiated NOD/SCID mice after one or two successive cryopreservation procedures. In primary transplants with frozen or refrozen CB cells we observed equivalent human colonies and percentages of human CD45+ cells, with multilineage engraftment. I...

    journal_title：Haematologica

    pub_type： 杂志文章

    doi：

    authors： Timeus F,Crescenzio N,Sanavio F,Fazio L,Doria A,Foglia L,Pignochino Y,Berger M,Piacibello W,Madon E,Cordero di Montezemolo L,Fagioli F

    更新日期：2006-03-01 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

  • 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

  • Microenvironmental contributions to hematopoietic stem cell aging.

    abstract：:Hematopoietic stem cell (HSC) aging was originally thought to be essentially an HSC-autonomous process, which is the focus of another review in the same issue of Haematologica However, studies on the microenvironment that maintains and regulates HSC (HSC niche) over the past 20 years have suggested that microenvironme...

    journal_title：Haematologica

    pub_type： 杂志文章,评审

    doi：10.3324/haematol.2018.211334

    authors： Ho YH,Méndez-Ferrer S

    更新日期：2020-01-01 00:00:00

  • B-cell depletion with rituximab as treatment for immune hemolytic anemia and chronic thrombocytopenia.

    abstract：BACKGROUND AND OBJECTIVES:Rituximab reacts specifically with the CD20 antigen and induces B-cell depletion. This could interfere with the production of autoantibodies in some immune diseases. The objective of this study was to assess the effects of rituximab in autoimmune hemolytic anemia and thrombocytopenia. DESIGN ...

    journal_title：Haematologica

    pub_type： 临床试验,杂志文章

    doi：

    authors： Zaja F,Iacona I,Masolini P,Russo D,Sperotto A,Prosdocimo S,Patriarca F,de Vita S,Regazzi M,Baccarani M,Fanin R

    更新日期：2002-02-01 00:00:00

  • Regulation of PTEN by CK2 and Notch1 in primary T-cell acute lymphoblastic leukemia: rationale for combined use of CK2- and gamma-secretase inhibitors.

    abstract：:T-cell acute lymphoblastic leukemia (T-ALL) patients frequently display NOTCH1 activating mutations and Notch can transcriptionally down-regulate the tumor suppressor PTEN. However, it is not clear whether NOTCH1 mutations associate with decreased PTEN expression in primary T-ALL. Here, we compared patients with or wi...

    journal_title：Haematologica

    pub_type： 杂志文章

    doi：10.3324/haematol.2009.011999

    authors： Silva A,Jotta PY,Silveira AB,Ribeiro D,Brandalise SR,Yunes JA,Barata JT

    更新日期：2010-04-01 00:00:00

  • Cell type specific novel lncRNAs and circRNAs in the BLUEPRINT haematopoietic transcriptomes atlas.

    abstract：:Transcriptional profiling of hematopoietic cell subpopulations has helped characterize the developmental stages of the hematopoietic system and the molecular bases of malignant and non-malignant blood diseases for the past three decades. Previously, only the genes targeted by expression microarrays could be profiled g...

    journal_title：Haematologica

    pub_type： 杂志文章

    doi：10.3324/haematol.2019.238147

    authors： Grassi L,Izuogu OG,Jorge NA,Seyres D,Bustamante M,Burden F,Farrow S,Farahi N,Martin FJ,Frankish A,Mudge JM,Kostadima M,Petersen R,Lambourne JJ,Rowlston S,Martin-Rendon E,Clarke L,Downes K,Estivill X,Flicek P,Marte

    更新日期：2020-07-23 00:00:00

  • Telomerase activity in human hematopoietic progenitor cells.

    abstract：BACKGROUND AND OBJECTIVE:Telomerase is the enzyme that stabilizes and elongates the telomeric ends of chromosomes. It is expressed in germline and malignant cells and absent in most human somatic cells. The selective expression of telomerase has thus been proposed to be a basis for the immortality of germline and malig...

    journal_title：Haematologica

    pub_type： 杂志文章

    doi：

    authors： Hohaus S,Voso MT,Orta-La Barbera E,Cavallo S,Bellacosa A,Rutella S,Rumi C,Genuardi M,Neri G,Leone G

    更新日期：1997-05-01 00:00:00

  • 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

  • Fluorescence in situ hybridization analysis of minimal residual disease and the relevance of the der(9) deletion in imatinib-treated patients with chronic myeloid leukemia.

    abstract：:Forty-six patients with chronic myeloid leukemia receiving imatinib mesylate (39 in chronic phase, one in accelerated phase, and six in blastic crisis), were studied for a 20-62 month follow-up period by cytogenetics and fluorescence in situ hybridization using dual-color, dual-fusion BCR and ABL probes. This approach...

    journal_title：Haematologica

    pub_type： 信件

    doi：

    authors： Calabrese G,Fantasia D,Di Gianfilippo R,Stuppia L,Di Lorenzo R,Palka G

    更新日期：2006-07-01 00:00:00

  • Transition from fresh frozen plasma to solvent/detergent plasma in the Netherlands: comparing clinical use and transfusion reaction risks.

    abstract：:Plasma transfusion is indicated for replenishment of coagulative proteins to stop or prevent bleeding. In 2014, the Netherlands switched from using ~300mL fresh frozen plasma (FFP) units to using 200mL Omniplasma, a solvent/detergent treated pooled plasma (SD plasma), units. We evaluated the effect of the introduction...

    journal_title：Haematologica

    pub_type： 杂志文章

    doi：10.3324/haematol.2019.222083

    authors： Saadah NH,Schipperus MR,Wiersum-Osselton JC,van Kraaij MG,Caram-Deelder C,Beckers EAM,Leyte A,Rondeel JMM,de Vooght KMK,Weerkamp F,Zwaginga JJ,van der Bom JG

    更新日期：2020-04-01 00:00:00

  • Standard and novel imaging methods for multiple myeloma: correlates with prognostic laboratory variables including gene expression profiling data.

    abstract：:Multiple myeloma causes major morbidity resulting from osteolytic lesions that can be detected by metastatic bone surveys. Magnetic resonance imaging and positron emission tomography can detect bone marrow focal lesions long before development of osteolytic lesions. Using data from patients enrolled in Total Therapy 3...

    journal_title：Haematologica

    pub_type： 临床试验,杂志文章

    doi：10.3324/haematol.2012.066555

    authors： Waheed S,Mitchell A,Usmani S,Epstein J,Yaccoby S,Nair B,van Hemert R,Angtuaco E,Brown T,Bartel T,McDonald J,Anaissie E,van Rhee F,Crowley J,Barlogie B

    更新日期：2013-01-01 00:00:00

  • Idarubicin in low-grade non-Hodgkin's lymphomas.

    abstract：:The majority of responses produced in patients with low-grade lymphomas are unique among non-Hodgkin's lymphomas (NHL), and even with a more intensive chemotherapy regimen, they are only partial; the very few complete responses which are induced are usually of short duration and do not influence overall survival. Ther...

    journal_title：Haematologica

    pub_type： 杂志文章,评审

    doi：

    authors： Zinzani PL

    更新日期：1997-09-01 00:00:00