Hepcidin mutation in a β-thalassemia major patient with persistent severe iron overload despite chelation therapy

被引：4

作者：

Duca, Lorena ^{[2
]}

Delbini, Paola ^{[2
]}

Nava, Isabella ^{[2
]}

Cappellini, Maria Domenica ^{[2
]}

Meo, Anna ^{[1
]}

机构：

[1] Univ Messina, Dept Pediat, Fac Med, G Martino Policlin, Messina, Italy

[2] Univ Milan, Dept Internal Med, Maggiore Policlin, Mangiagalli & Regina Elena Fdn IRCCS, Milan, Italy

来源：

INTERNAL AND EMERGENCY MEDICINE | 2010年 / 5卷 / 01期

关键词：

Iron Overload; Thalassemia; Chelation Therapy; Liver Iron Concentration; Hepcidin Expression;

D O I：

10.1007/s11739-009-0306-8

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：83 / 85

页数：3

共 5 条

[1] Decreased hepcidin mRNA expression in thalassemic mice [J].

Adamsky, K ;

Weizer, O ;

Amariglio, N ;

Breda, L ;

Harmelin, A ;

Rivella, S ;

Rachmilewitz, E ;

Rechavi, G .

BRITISH JOURNAL OF HAEMATOLOGY, 2004, 124 (01) :123-124

[2] Identification of new mutations of hepcidin and hemojuvelin in patients with HFE C282Y allele [J].

Biasiotto, G ;

Roetto, A ;

Daraio, F ;

Polotti, A ;

Gerardia, GM ;

Girelli, D ;

Cremonesi, L ;

Arosioa, P ;

Camaschella, C .

BLOOD CELLS MOLECULES AND DISEASES, 2004, 33 (03) :338-343

[3] Interacting signals in the control of hepcidin expression [J].

Darshan, Deepak ;

Anderson, Gregory J. .

BIOMETALS, 2009, 22 (01) :77-87

[4] H63D homozygotes with hyperferritinaemia:: is this genotype, the primary cause of iron overload? [J].

de Diego, Carles ;

Opazo, Sonsoles ;

Murga, Maria J. ;

Martinez-Castro, Pedro .

EUROPEAN JOURNAL OF HAEMATOLOGY, 2007, 78 (01) :66-71

[5] Kinetics of removal and reappearance of non-transferrin-bound plasma iron with deferoxamine therapy [J].

Porter, JB ;

Abeysinghe, RD ;

Marshall, L ;

Hider, RC ;

Singh, S .

BLOOD, 1996, 88 (02) :705-713

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