Abstract:
:Most cases of erythrocytosis occur secondary to chronic tissue hypoxia or as a clonal disease such as polycythemia vera with somatic mutations in the Janus kinase 2 (JAK2) gene. Rarely, erythrocytosis is caused by hereditary gene mutations. This study investigated hereditary gene mutations in 38 unrelated Korean patients with isolated erythrocytosis without (1) JAK2 mutation and (2) secondary causes of erythrocytosis other than smoking history. Direct sequencing analyses were performed on six genes associated with hereditary erythrocytosis [HBB, exon 2 and exon 3 of HBA2, VHL, EGLN1 (previously PHD2), exon 12 of EPAS1 (previously HIF2A), and exons 5-8 of EPOR]. As a result, mutations were detected in five patients (three never smokers and two current smokers) out of 38 patients (13.2 %). The mutations detected in those five patients were EPOR:p.W439*, EPOR:p.G212C, HBB:p.H98Q (or conventionally H97Q, Hb Malmö [β 97(FG4) His > Gln]), HBB:p.V138M (V137M), and EGLN1:p.L279Tfs43*, all in heterozygous state. No patient had mutations in HBA2, VHL, or in EPAS1. This study indicates that workup for hereditary gene mutations is needed for isolated erythrocytosis with or without smoking history.
journal_name
Ann Hematoljournal_title
Annals of hematologyauthors
Jang JH,Seo JY,Jang J,Jung CW,Lee KO,Kim SH,Kim HJdoi
10.1007/s00277-014-2006-3subject
Has Abstractpub_date
2014-06-01 00:00:00pages
931-5issue
6eissn
0939-5555issn
1432-0584journal_volume
93pub_type
杂志文章abstract::We investigated whether human peripheral blood mononuclear cells (PBMC) express prothrombinase following stimulation with bacterial lipopolysaccharide (LPS). LPS-stimulated PBMC devoid of contaminating platelets failed to activate prothrombin directly. Addition of platelets did not result in expression of prothrombina...
journal_title:Annals of hematology
pub_type: 杂志文章
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journal_title:Annals of hematology
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journal_title:Annals of hematology
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journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-008-0581-x
更新日期:2009-03-01 00:00:00
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journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/BF01738304
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journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/BF01695696
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journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s002770050283
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journal_title:Annals of hematology
pub_type: 杂志文章,meta分析
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更新日期:2020-06-01 00:00:00
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journal_title:Annals of hematology
pub_type: 杂志文章
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更新日期:2016-02-01 00:00:00
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journal_title:Annals of hematology
pub_type: 杂志文章
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更新日期:1996-11-01 00:00:00
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journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-003-0718-x
更新日期:2003-12-01 00:00:00
abstract::Established risk factors for thrombosis in essential thrombocythemia (ET) include age (≥ 60 years) and previous vascular events. Recently, also leukocytosis has been proposed in risk stratification of ET patients. We report a retrospective study on 532 ET patients followed for a median of 7.6 years. Sixty-four patient...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-010-1154-3
更新日期:2011-08-01 00:00:00
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journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-016-2674-2
更新日期:2016-06-01 00:00:00
abstract::Acquired aplastic anemia (AA) and paroxysmal nocturnal hemoglobinuria (PNH) are interrelated ultra-rare diseases. Quality of life (QoL) evaluation tools used in studies for AA and PNH are unspecific and designed for cancer patients (e.g., the European Organization for Research and Treatment of Cancer Quality of Life Q...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-016-2867-8
更新日期:2017-02-01 00:00:00
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journal_title:Annals of hematology
pub_type: 杂志文章,多中心研究
doi:10.1007/s00277-020-04249-2
更新日期:2020-11-01 00:00:00
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journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-020-04083-6
更新日期:2020-09-01 00:00:00
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journal_title:Annals of hematology
pub_type: 杂志文章,评审
doi:10.1007/s00277-015-2553-2
更新日期:2016-01-01 00:00:00
abstract::High-count monoclonal B cell lymphocytosis (MBL) with a chronic lymphocytic leukemia (CLL) phenotype is a well-known entity, featuring 1-4% annual risk of progression towards CLL requiring treatment. Lymphoma-like MBL (L-MBL), on the other hand, remains poorly defined and data regarding outcome are lacking. We retrosp...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-018-3282-0
更新日期:2018-07-01 00:00:00
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journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-015-2394-z
更新日期:2015-09-01 00:00:00
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journal_title:Annals of hematology
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doi:10.1007/s002770000267
更新日期:2001-04-01 00:00:00
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journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-008-0466-z
更新日期:2008-07-01 00:00:00
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journal_title:Annals of hematology
pub_type: 杂志文章
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更新日期:2020-02-01 00:00:00
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journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-007-0305-7
更新日期:2007-09-01 00:00:00
abstract::Since December 2019, a novel coronavirus has spread throughout China and across the world, causing a continuous increase in confirmed cases within a short period of time. Some studies reported cases of thrombocytopenia, but hardly any studies mentioned how the virus causes thrombocytopenia. We propose several mechanis...
journal_title:Annals of hematology
pub_type: 杂志文章,评审
doi:10.1007/s00277-020-04019-0
更新日期:2020-06-01 00:00:00
abstract::Amifostine increases in vitro burst-forming unit-erythroid and colony-forming unit-granulocyte/granulcoyte-macrophage cultured from bone-marrow cells from patients with myelodysplastic syndrome (MDS). Several small clinical studies give divergent informations about the potential of amifostine as single agent to improv...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s002770050589
更新日期:2000-05-01 00:00:00
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journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-015-2479-8
更新日期:2015-12-01 00:00:00
abstract::Essential thrombocythemia (ET) is a heterogeneous disorder. For example, the growth of erythropoietin-independent erythroid colonies, termed "endogenous erythroid colonies (EECs)", has previously been observed in only 50% of ET patients. We have recently described the overexpression of a hematopoietic receptor, PRV-1 ...
journal_title:Annals of hematology
pub_type: 临床试验,杂志文章,多中心研究
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更新日期:2004-06-01 00:00:00
abstract::Chronic lymphocytic leukaemia (CLL) is the most common leukaemia in European adults. We aimed to evaluate time trends in CLL incidence and medical resource utilisation of CLL patients in the UK. We conducted a retrospective, observational cohort analysis using the UK Clinical Practice Research Datalink (CPRD) comprisi...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-014-2217-7
更新日期:2015-03-01 00:00:00
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journal_title:Annals of hematology
pub_type: 杂志文章,评审
doi:10.1007/s00277-002-0557-1
更新日期:2002-11-01 00:00:00
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journal_title:Annals of hematology
pub_type: 杂志文章,多中心研究
doi:10.1007/s00277-007-0356-9
更新日期:2007-12-01 00:00:00