Abstract:
:The aim of this epidemiologic population survey was to assess the penetrance of the most frequent hemochromatosis (HFE) gene variants in ethnic Danish men. A cohort of 6,020 men aged 30-53 years was screened for HFE C282Y, H63D, and S65C variants by restriction fragment length polymorphism analysis. Subsequently, iron status markers (serum transferrin saturation, serum ferritin) were analyzed in 1,452 men. The C282Y allele was present in 5.6%, H63D in 12.8%, and S65C in 1.8% of the men. We found 23 out of 6,020 (0.38%) C282Y homozygotes, of whom two had been treated with phlebotomy. Among untreated C282Y homozygotes (n = 21) with available iron status markers (transferrin saturation n = 18, ferritin n = 16), 89% had elevated transferrin saturation >or=50%, 94% had elevated ferritin >or=300 microg/L, and 88% had elevation of both iron status markers; seven out of 16 (44%) had ferritin values >800 microg/L. One C282Y homozygote had normal iron status markers possibly due to nonexpressivity. Among C282Y/H63D compound heterozygotes (n = 66), 23% had elevated transferrin saturation, 27% elevated ferritin, and 9% elevation of both iron status markers. Among H63D/H63D homozygotes (n = 74), 15% had elevated transferrin saturation, 19% elevated ferritin, and 5.4% elevation of both iron status markers. Among C282Y/wild type (wt) heterozygotes (n = 255), 9% had elevated transferrin saturation, 9% elevated ferritin, and 1.2% elevation of both iron status markers. Among H63D/wt heterozygotes (n = 600), 8% had elevated transferrin saturation, 12% elevated ferritin, and 2% elevation of both iron status markers. None of the men with the S65C variant displayed elevation of both iron status markers. In conclusion, this study demonstrates a high penetrance of the C282Y variant in Danish men followed by the H63D variant while the S65D variant had no significant impact on iron status markers.
journal_name
Ann Hematoljournal_title
Annals of hematologyauthors
Pedersen P,Milman Ndoi
10.1007/s00277-008-0679-1subject
Has Abstractpub_date
2009-08-01 00:00:00pages
775-84issue
8eissn
0939-5555issn
1432-0584journal_volume
88pub_type
杂志文章abstract::To investigate whether cytokine genetic polymorphisms influence the outcome of diffuse large B cell lymphoma (DLBCL), we tested 337 consecutive DLBCL treated with CHOP or rituximab-CHOP (R-CHOP) from interleukin 10 (IL10), Bcl-2, and tumor necrosis factor (TNF)-α polymorphisms. Patients who carried the IL10 rs1800871 ...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-016-2857-x
更新日期:2017-02-01 00:00:00
abstract::Venous thromboembolism (VTE) is a well-recognized complication in pediatric oncology patients. Studies in adult oncology patients have suggested a potential negative association between VTE and survival, but this association has not been examined in pediatric patients yet. The aim of this study was to assess the assoc...
journal_title:Annals of hematology
pub_type: 杂志文章,多中心研究
doi:10.1007/s00277-018-3371-0
更新日期:2018-10-01 00:00:00
abstract::The matricellular protein SPARC (secreted protein acidic and rich in cysteine)/osteonectin was determined in patients with multiple myeloma and related disease to assess the hypothesized role of SPARC as a possible marker of tumor burden and disease progression. Soluble SPARC was measured by competitive enzyme-linked ...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-004-0990-4
更新日期:2005-05-01 00:00:00
abstract::The introduction of rituximab into the primary treatment of malignant lymphomas of the B cell lineage has had a major impact on the management of these diseases. In addition, prolonged exposure to rituximab as maintenance therapy has been beneficial in patients with follicular lymphoma and mantle cell lymphoma. For th...
journal_title:Annals of hematology
pub_type: 杂志文章,随机对照试验
doi:10.1007/s00277-008-0560-2
更新日期:2009-01-01 00:00:00
abstract::Blastic transformation of essential thrombocythemia (ET) preceded by chemotherapy is occasionally described in the literature. In ET as well as in other myeloproliferative disorders the leukemogenic effect of alkylating agents and (32)P is well established, and recent reports also indicate a certain leukemogenic effec...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s002770050007
更新日期:2000-01-01 00:00:00
abstract::MicroRNAs are a class of small non-coding RNAs that are 19-22 nucleotides in length and regulate a variety of biological processes at the post-transcriptional level. MicroRNA dysregulation disrupts normal biological processes, resulting in tumorigenesis. Acute myeloid leukemia is an invasive hematological malignancy c...
journal_title:Annals of hematology
pub_type: 杂志文章,评审
doi:10.1007/s00277-019-03887-5
更新日期:2020-03-01 00:00:00
abstract::Early mortality remains a major challenge for the treatment of hemophagocytic lymphohistiocytosis (HLH), which warrants the need for prompt risk stratification in the early phase of the disease. We retrospectively analyzed clinical features of a cohort of pediatric patients managed at a tertiary hospital in southern C...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-016-2727-6
更新日期:2016-09-01 00:00:00
abstract::The JAK2V617F mutation is part of the major criteria for diagnosis of myeloproliferative neoplasms (MPN). Allele-specific quantitative PCR (qPCR) is the most prevalent method used in laboratories but with the advent of next-generation sequencing (NGS) techniques, we felt necessary to evaluate this approach for JAK2 mu...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-018-3499-y
更新日期:2019-01-01 00:00:00
abstract::Controversy remains regarding the transplant outcomes of human leukocyte antigen-identical related bone marrow transplantation (BMT) and peripheral blood stem cell transplantation (PBSCT) for the treatment of patients with hematological malignancies. To provide an estimate of the effect of BMT and PBSCT on clinical ou...
journal_title:Annals of hematology
pub_type: 杂志文章,meta分析
doi:10.1007/s00277-011-1299-8
更新日期:2012-03-01 00:00:00
abstract::Patients previously diagnosed with invasive aspergillosis (IA) have been considered to be at risk for relapse of mycosis during subsequent hematopoietic transplant. Even with prophylactic measures, reactivation of the infection occurs in 29% of patients undergoing bone marrow transplantation (BMT). A period of neutrop...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s002770100311
更新日期:2001-08-01 00:00:00
abstract::Interleukin-6 (IL-6) has been shown to be an inducer of the acute-phase response (APR) and to be involved in the pathogenesis of several disease states, including graft-versus-host disease (GvHD) following allogeneic bone marrow transplantation (BMT). As blood cells of the monocyte lineage are known to be major produc...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/BF01696617
更新日期:1995-06-01 00:00:00
abstract::Nodal peripheral T cell lymphomas (nPTCL) present aggressive clinical course, and its heterogeneous nature and poor prognosis with current therapeutic strategies make it a target for the development of new prognostic markers. Thus, we investigated tumor-associated macrophages (TAM) according to the number of cells exp...
journal_title:Annals of hematology
pub_type: 临床试验,杂志文章
doi:10.1007/s00277-019-03731-w
更新日期:2019-09-01 00:00:00
abstract::Extramedullary (e) relapse in multiple myeloma(MM) has an adverse prognosis, but knowledge concerning biological features and preferred treatment is scarce. We screened the myeloma registry of our institution for eMM relapses and identified 24 cases among 357 patients (pts).Only 8% of eMM relapses occurred after initi...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-012-1414-5
更新日期:2012-07-01 00:00:00
abstract::Mixed phenotype acute leukemia (MPAL) is a rare type of leukemia with a limited number of studies conducted to characterize its clinical spectrum and most importantly the best treatment modality. MPAL blasts show more than one phenotype either myeloid/monocytic with T- or B-lymphoid or extremely rare triple lineage as...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-020-04354-2
更新日期:2020-11-23 00:00:00
abstract::Three adolescents with central nervous system (CNS) negative acute myeloid leukaemia (AML) refused cranial irradiation for CNS prophylaxis. Instead, these patients received four doses of 50 mg of intrathecal (IT) liposomal cytarabine on day 1, 15, 43 and 71 of maintenance therapy. Corticosteroids were given to prevent...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-008-0521-9
更新日期:2008-11-01 00:00:00
abstract::Recommendations for dyslipidemia management aimed at reducing arterial occlusive events (AOEs) have been recently published. So far, no data have been reported on the management of dyslipidemia in chronic myeloid leukemia (CML) patients treated with nilotinib. We investigated 369 CML adult patients, stratified accordi...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-020-04392-w
更新日期:2021-01-03 00:00:00
abstract::This retrospective single-center analysis studied the impact of the conditioning and the graft-versus-host disease (GVHD) prophylaxis on outcome in unselected patients allografted for chronic myelomonocytic leukemia (CMML) and acute myeloid leukemia (AML) secondary to documented prior CMML. A total of 44 patients (med...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-020-03952-4
更新日期:2020-04-01 00:00:00
abstract::In an effort to overcome bone marrow failure in myelodysplastic syndrome (MDS), we have investigated recombinant human granulocyte-macrophage colony-stimulating factor (GM-CSF) and interleukin-3 (IL-3) in phase I-II clinical trials. Although these agents partially increased peripheral blood granulocyte counts, their e...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/BF01709650
更新日期:1991-12-01 00:00:00
abstract::Organizing pneumonia (OP) is a poorly understood complication of hematopoietic stem cell transplant (HSCT). We identified 15 patients diagnosed with OP following HSCT and described their clinical course. CT chest findings were remarkable for multifocal infiltrates that were predominantly consolidating or ground glass ...
journal_title:Annals of hematology
pub_type: 临床试验,杂志文章
doi:10.1007/s00277-019-03746-3
更新日期:2019-09-01 00:00:00
abstract::The use of prophylactic antimicrobials during autologous peripheral blood stem cell transplantation (APBSCT) remains controversial. A prospective study was therefore conducted to examine whether the use of prophylactic antimicrobials is necessary. In this study, all the antimicrobials were given therapeutically rather...
journal_title:Annals of hematology
pub_type: 临床试验,杂志文章
doi:10.1007/s00277-002-0567-z
更新日期:2003-01-01 00:00:00
abstract::The frequency of apoptotic cells in bone marrow trephine biopsies and cytospins of immunomagnetically isolated myeloid progenitor cells was determined in 39 patients with chronic idiopathic neutropenia (CIN) and 12 hematologically normal individuals using the in situ end-labeling (ISEL) apoptosis detection method. We ...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-003-0709-y
更新日期:2003-10-01 00:00:00
abstract::To characterize T-cell large granular leukemia in Asia, 22 Chinese patients from a single institute were reported, together with an analysis of 88 Asian and 272 Western patients identified from the literature. In our cohort, anemia due to pure red cell aplasia (PRCA) occurred in 15/22 (68%) of cases, being the most co...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-009-0895-3
更新日期:2010-04-01 00:00:00
abstract::A patient with a lymphoid blast crisis of a chronic myelogenous leukemia (CML) was treated with vindesine, vincristine and prednisone. Blasts disappeared from the peripheral blood but persisted at a level of 60% in the bone marrow. After 5 weeks of continuous therapy, the patient became thrombopenic, and 2 weeks later...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/BF01715138
更新日期:1994-02-01 00:00:00
abstract::A patient with painful peripheral neuropathy is presented, whose symptoms were thought to result from an infection with Borrelia burgdorferi sensu lato. Investigations of the cerebrospinal fluid for signs of inflammation and borrelial antibodies were negative, and the patient did not benefit from repeated antibiotic t...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s002770000267
更新日期:2001-04-01 00:00:00
abstract::A 40-year-old patient with low-grade B-NHL developed a generalized macular-papular rash following the first cycle of fludarabine treatment which progressed to a complete epidermal necrolysis following the second cycle. Clinical symptoms and the results of the direct and indirect immunofluorescence were consistent with...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s002770050347
更新日期:1997-11-01 00:00:00
abstract::Raised percentage hypochromic red cells (%HRC) were detected at diagnosis in 10 of 34 consecutive patients with low-risk myelodysplastic syndrome (MDS) [refractory anemia (RA) (4/26) and RA with ring sideroblasts (6/8)], all of whom had normal or increased serum ferritin and bone marrow iron stores. Elevated %HRC has ...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-006-0107-3
更新日期:2006-07-01 00:00:00
abstract::National and regional population-based registries are, provided diagnostic accuracy and full coverage of the target population, indispensible tools for epidemiological research. Chronic myeloid leukaemia (CML) registries with more comprehensive reporting may also provide complementary data on treatment outcome to thos...
journal_title:Annals of hematology
pub_type: 杂志文章,评审
doi:10.1007/s00277-015-2314-2
更新日期:2015-04-01 00:00:00
abstract::Antithymocyte globulin (ATG) is the drug of choice for immunosuppressive therapy (IST) in patients with severe aplastic anemia (SAA) ineligible for allogeneic stem cell transplantation. Recently, rabbit ATG with cyclosporine A has been used as a first-line IST regimen in patients with SAA because of unavailability of ...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-013-1674-8
更新日期:2013-06-01 00:00:00
abstract::Upper aerodigestive tract natural killer (NK)/T-cell lymphoma (UNKTL) is the most common type of extranodal NK/T-cell lymphoma, nasal type. Serum beta2-microglobulin (β2-M) was found to be a predictor in some subtypes of B-cell lymphoma. However, its prognostic significance in NK/T-cell lymphoma has never been explore...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-012-1434-1
更新日期:2012-08-01 00:00:00
abstract::A 72-year-old-man with night sweats and a low-grade fever was found to have bilateral adrenal enlargement associated with incipient adrenal insufficiency. Without any intervention, these adrenal lesions regressed spontaneously, accompanied by disappearance of clinical symptoms. Seven months later, however, the lesions...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s002770100335
更新日期:2001-09-01 00:00:00