Thalassemia: An Overview of 50 Years of Clinical Research

被引:54
作者
Sankaran, Vijay G. [1 ,2 ,3 ,4 ]
Nathan, David G. [1 ,2 ,3 ]
机构
[1] Harvard Univ, Sch Med, Boston, MA 02115 USA
[2] Childrens Hosp Boston, Boston, MA 02115 USA
[3] Dana Farber Canc Inst, Boston, MA 02115 USA
[4] Whitehead Inst Biomed Res, Cambridge, MA 02142 USA
关键词
Thalassemia; Hemoglobin; Erythrocyte; Transfusion; FETAL-HEMOGLOBIN PRODUCTION; SICKLE-CELL-ANEMIA; GLOBIN GENE-EXPRESSION; MURINE BETA-THALASSEMIA; GENOME-WIDE ASSOCIATION; PRENATAL-DIAGNOSIS; ALPHA-THALASSEMIA; DNA POLYMORPHISMS; MESSENGER-RNA; IRON OVERLOAD;
D O I
10.1016/j.hoc.2010.08.009
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
The thalassemias are attributable to the defective production of the alpha- and beta-globin polypeptides of hemoglobin Significant discoveries have illuminated the pathophysiology and enhanced the prevention and treatment of the thalassemias and this article reviews many of the advances that have occurred in the past 50 years However the application of new approaches to the treatment of these disorders has been slow particularly in the developing world where the diseases are common but there is definite progress This article emphasizes how the increasing knowledge of cellular and molecular biology are facilitating the development of more effective therapies for these patients
引用
收藏
页码:1005 / +
页数:17
相关论文
共 137 条
[81]   The several Cs of translational clinical research [J].
Nathan, DG .
JOURNAL OF CLINICAL INVESTIGATION, 2005, 115 (04) :795-797
[82]   BETA THALASSEMIA AND TRANSLATION OF GLOBIN MESSENGER RNA [J].
NATHAN, DG ;
LODISH, HF ;
KAN, YW ;
HOUSMAN, D .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1971, 68 (10) :2514-&
[83]   THALASSEMIA - CONSEQUENCES OF UNBALANCED HEMOGLOBIN SYNTHESIS [J].
NATHAN, DG ;
GUNN, RB .
AMERICAN JOURNAL OF MEDICINE, 1966, 41 (05) :815-+
[84]   The Role of Hepcidin in Iron Metabolism [J].
Nemeth, Elizabeta ;
Ganz, Tomas .
ACTA HAEMATOLOGICA, 2009, 122 (2-3) :78-86
[85]   ISOLATION AND TRANSLATION OF HEMOGLOBIN MESSENGER RNA FROM THALASSEMIA, SICKLE CELL ANEMIA, AND NORMAL HUMAN RETICULOCYTES [J].
NIENHUIS, AW ;
ANDERSON, WF .
JOURNAL OF CLINICAL INVESTIGATION, 1971, 50 (11) :2458-&
[86]   Effectiveness and safety of ICL670 in iron-loaded patients with thalassaemia:: a randomised, double-blind, placebo-controlled, dose-escalation trial [J].
Nisbet-Brown, E ;
Olivieri, NF ;
Giardina, PJ ;
Grady, RW ;
Neufeld, EJ ;
Séchaud, R ;
Krebs-Brown, AJ ;
Anderson, JR ;
Alberti, D ;
Sizer, KC ;
Nathan, DG .
LANCET, 2003, 361 (9369) :1597-1602
[87]   A genome-wide association identified the common genetic variants influence disease severity in β0-thalassemia/hemoglobin E [J].
Nuinoon, Manit ;
Makarasara, Wattanan ;
Mushiroda, Taisei ;
Setianingsih, Iswari ;
Wahidiyat, Pustika Amalia ;
Sripichai, Orapan ;
Kumasaka, Natsuhiko ;
Takahashi, Atsushi ;
Svasti, Saovaros ;
Munkongdee, Thongperm ;
Mahasirimongkol, Surakameth ;
Peerapittayamongkol, Chayanon ;
Viprakasit, Vip ;
Kamatani, Naoyuki ;
Winichagoon, Pranee ;
Kubo, Michiaki ;
Nakamura, Yusuke ;
Fucharoen, Suthat .
HUMAN GENETICS, 2010, 127 (03) :303-314
[88]  
OLD JM, 1982, LANCET, V2, P1413
[89]   The β-thalassemias [J].
Olivieri, NF .
NEW ENGLAND JOURNAL OF MEDICINE, 1999, 341 (02) :99-109
[90]   SURVIVAL IN MEDICALLY TREATED PATIENTS WITH HOMOZYGOUS BETA-THALASSEMIA [J].
OLIVIERI, NF ;
NATHAN, DG ;
MACMILLAN, JH ;
WAYNE, AS ;
LIU, PP ;
MCGEE, A ;
MARTIN, M ;
KOREN, G ;
COHEN, AR .
NEW ENGLAND JOURNAL OF MEDICINE, 1994, 331 (09) :574-578