Abstract:
:Sickle cell disease (SCD) and ß-thalassemia represent the most common hemoglobinopathies caused, respectively, by the alteration of structural features or deficient production of the ß-chain of the Hb molecule. Other hemoglobinopathies are characterized by different mutations in the α- or ß-globin genes and are associated with anemia and might require periodic or chronic blood transfusions. Therefore, ß-thalassemia, SCD and other hemoglobinopathies are excellent candidates for genetic approaches since they are monogenic disorders and, potentially, could be cured by introducing or correcting a single gene into the hematopoietic compartment or a single stem cell. Initial attempts at gene transfer of these hemoglobinopathies have proved unsuccessful due to limitations of available gene transfer vectors. With the advent of lentiviral vectors many of the initial limitations have been overcame. New approaches have also focused on targeting the specific mutation in the ß-globin genes, correcting the DNA sequence or manipulating the fate of RNA translation and splicing to restore ß-globin chain synthesis. These techniques have the potential to correct the defect into hematopoietic stem cells or be utilized to modify stem cells generated from patients affected by these disorders. This review discusses gene therapy strategies for the hemoglobinopathies, including the use of lentiviral vectors, generation of induced pluripotent stem cells (iPS) cells, gene targeting, splice-switching and stop codon readthrough.
journal_name
Mediterr J Hematol Infect Disauthors
Breda L,Gambari R,Rivella Sdoi
10.4084/MJHID.2009.008subject
Has Abstractpub_date
2009-11-13 00:00:00pages
e2009008issue
1issn
2035-3006journal_volume
1pub_type
杂志文章abstract::The transition of patients with ≥20% <30% bone marrow (BM) blast from the FAB category of myelodysplasia to the family of acute myeloid leukemia (AML) according to the recent WHO classification has not resolved the argument as to whether the natural history and responsiveness to therapy of these diseases is comparable...
journal_title:Mediterranean journal of hematology and infectious diseases
pub_type: 杂志文章
doi:10.4084/MJHID.2013.032
更新日期:2013-06-03 00:00:00
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journal_title:Mediterranean journal of hematology and infectious diseases
pub_type: 杂志文章
doi:10.4084/MJHID.2018.058
更新日期:2018-11-01 00:00:00
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journal_title:Mediterranean journal of hematology and infectious diseases
pub_type: 杂志文章
doi:10.4084/MJHID.2012.015
更新日期:2012-01-01 00:00:00
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journal_title:Mediterranean journal of hematology and infectious diseases
pub_type: 杂志文章
doi:10.4084/MJHID.2012.072
更新日期:2012-01-01 00:00:00
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journal_title:Mediterranean journal of hematology and infectious diseases
pub_type:
doi:10.4084/MJHID.2020.059
更新日期:2020-09-01 00:00:00
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journal_title:Mediterranean journal of hematology and infectious diseases
pub_type: 杂志文章,评审
doi:10.4084/MJHID.2020.069
更新日期:2020-09-01 00:00:00
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journal_title:Mediterranean journal of hematology and infectious diseases
pub_type: 杂志文章,评审
doi:10.4084/MJHID.2015.001
更新日期:2015-01-01 00:00:00
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journal_title:Mediterranean journal of hematology and infectious diseases
pub_type: 杂志文章,评审
doi:10.4084/MJHID.2020.042
更新日期:2020-07-01 00:00:00
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journal_title:Mediterranean journal of hematology and infectious diseases
pub_type: 杂志文章
doi:10.4084/MJHID.2015.032
更新日期:2015-04-20 00:00:00
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journal_title:Mediterranean journal of hematology and infectious diseases
pub_type:
doi:10.4084/MJHID.2012.008
更新日期:2012-01-01 00:00:00
abstract:Background:Alpha Thalassemia (α-thal) is a heterogeneous group of hereditary alterations caused by deletions that affect alpha regulatory genes, and the 3.7Kb deletion is the most frequent worldwide. The prevalence ranges from 20% and 35% in Brazil, depending mainly on race, predominant in Afro-descendants. Purpose:Th...
journal_title:Mediterranean journal of hematology and infectious diseases
pub_type: 杂志文章
doi:10.4084/MJHID.2021.001
更新日期:2021-01-01 00:00:00
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journal_title:Mediterranean journal of hematology and infectious diseases
pub_type: 杂志文章,评审
doi:10.4084/MJHID.2020.010
更新日期:2020-01-01 00:00:00
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journal_title:Mediterranean journal of hematology and infectious diseases
pub_type: 杂志文章
doi:10.4084/MJHID.2012.061
更新日期:2012-01-01 00:00:00
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journal_title:Mediterranean journal of hematology and infectious diseases
pub_type: 杂志文章
doi:10.4084/MJHID.2011.035
更新日期:2011-01-01 00:00:00
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journal_title:Mediterranean journal of hematology and infectious diseases
pub_type:
doi:10.4084/MJHID.2012.035
更新日期:2012-01-01 00:00:00
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journal_title:Mediterranean journal of hematology and infectious diseases
pub_type:
doi:10.4084/MJHID.2016.050
更新日期:2016-10-20 00:00:00
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journal_title:Mediterranean journal of hematology and infectious diseases
pub_type: 杂志文章
doi:10.4084/MJHID.2018.044
更新日期:2018-07-01 00:00:00
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journal_title:Mediterranean journal of hematology and infectious diseases
pub_type:
doi:10.4084/MJHID.2012.041
更新日期:2012-01-01 00:00:00
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journal_title:Mediterranean journal of hematology and infectious diseases
pub_type: 杂志文章
doi:10.4084/MJHID.2019.026
更新日期:2019-05-01 00:00:00
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journal_title:Mediterranean journal of hematology and infectious diseases
pub_type: 杂志文章
doi:10.4084/MJHID.2013.065
更新日期:2013-11-04 00:00:00
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journal_title:Mediterranean journal of hematology and infectious diseases
pub_type: 杂志文章
doi:10.4084/MJHID.2009.022
更新日期:2009-12-20 00:00:00
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journal_title:Mediterranean journal of hematology and infectious diseases
pub_type: 杂志文章
doi:10.4084/MJHID.2020.015
更新日期:2020-03-01 00:00:00
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journal_title:Mediterranean journal of hematology and infectious diseases
pub_type: 杂志文章
doi:10.4084/MJHID.2014.013
更新日期:2014-02-16 00:00:00
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journal_title:Mediterranean journal of hematology and infectious diseases
pub_type: 杂志文章,评审
doi:10.4084/MJHID.2016.011
更新日期:2016-02-10 00:00:00
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journal_title:Mediterranean journal of hematology and infectious diseases
pub_type:
doi:10.4084/MJHID.2013.042
更新日期:2013-06-04 00:00:00
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journal_title:Mediterranean journal of hematology and infectious diseases
pub_type:
doi:10.4084/MJHID.2015.011
更新日期:2015-01-01 00:00:00
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journal_title:Mediterranean journal of hematology and infectious diseases
pub_type: 杂志文章
doi:10.4084/MJHID.2015.013
更新日期:2015-02-20 00:00:00
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journal_title:Mediterranean journal of hematology and infectious diseases
pub_type: 杂志文章
doi:10.4084/MJHID.2010.034
更新日期:2010-01-01 00:00:00
abstract::In Primary Myelofibrosis (PMF), megakaryocyte dysplasia/hyperplasia determines the release of inflammatory cytokines that, in turn, stimulate stromal cells and induce bone marrow fibrosis. The pathogenic mechanism and the cells responsible for progression to bone marrow fibrosis in PMF are not completely understood. T...
journal_title:Mediterranean journal of hematology and infectious diseases
pub_type: 杂志文章,评审
doi:10.4084/MJHID.2018.068
更新日期:2018-11-01 00:00:00
abstract:BACKGROUND:Homozygous or double heterozygous factor XIII (FXIII) deficiency is characterized by soft tissue hematomas, intracranial and delayed spontaneous bleeding. Alterations of thromboelastography (TEG) parameters in these patients have been reported. The aim of the study was to show results of TEG, TEG Lysis (Lys ...
journal_title:Mediterranean journal of hematology and infectious diseases
pub_type: 杂志文章
doi:10.4084/MJHID.2016.037
更新日期:2016-08-16 00:00:00