The homozygous mutation G75R in the human SLC11A2 gene leads to microcytic anaemia and iron overload

被引:8
作者
Barrios, Marta [1 ]
Moreno-Carralero, Maria-Isabel [2 ]
Cuadrado-Grande, Nuria [2 ]
Baro, Maria [1 ]
Vivanco, Jose-Luis [1 ]
Moran-Jimenez, Maria-Josefa [2 ]
机构
[1] Hosp Univ 12 Octubre, Unidad Hemato Oncol Pediat, Madrid, Spain
[2] Hosp 12 Octubre, Inst Invest, Ctr Invest, E-28041 Madrid, Spain
关键词
SLC11A2; DMT1; microcytic anaemia; liver iron overload; DMT1; PATIENT;
D O I
10.1111/j.1365-2141.2012.09043.x
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:514 / 516
页数:3
相关论文
共 8 条
[1]   A novel N491S mutation in the human SLC11A2 gene impairs protein trafficking and in association with the G212V mutation leads to microcytic anemia and liver iron overload [J].
Bardou-Jacquet, Edouard ;
Island, Marie-Laure ;
Jouanolle, Anne-Marie ;
Detivaud, Lenaick ;
Fatih, Nadia ;
Ropert, Martine ;
Brissot, Eolia ;
Mosser, Annick ;
Maisonneuve, Herve ;
Brissot, Pierre ;
Loreal, Olivier .
BLOOD CELLS MOLECULES AND DISEASES, 2011, 47 (04) :243-248
[2]   Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload [J].
Beaumont, C ;
Delaunay, J ;
Hetet, G ;
Grandchamp, B ;
de Montalembert, M ;
Tchernia, G .
BLOOD, 2006, 107 (10) :4168-4170
[3]   Not all DMT1 mutations lead to iron overload [J].
Blanco, Esther ;
Kannengiesser, Caroline ;
Grandchamp, Bernard ;
Tasso, Maria ;
Beaumont, Carole .
BLOOD CELLS MOLECULES AND DISEASES, 2009, 43 (02) :199-201
[4]   Microcytic anemia and hepatic iron overload in a child with compound heterozygous mutations in DMT1 (SCL11A2) [J].
Iolascon, A ;
d'Apolito, M ;
Servedio, V ;
Cimmino, F ;
Piga, A ;
Camaschella, C .
BLOOD, 2006, 107 (01) :349-354
[5]   Mutations in the Gene Encoding DMT1: Clinical Presentation Treatment [J].
Iolascon, Achille ;
De Falco, Luigia .
SEMINARS IN HEMATOLOGY, 2009, 46 (04) :358-370
[6]   Molecular basis of inherited microcytic anemia due to defects in iron acquisition or heme synthesis [J].
Iolascon, Achille ;
De Falco, Luigia ;
Beaumont, Carole .
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL, 2009, 94 (03) :395-408
[7]   Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload [J].
Mims, MP ;
Guan, YL ;
Pospisilova, D ;
Priwitzerova, M ;
Indrak, K ;
Ponka, P ;
Divoky, V ;
Prchal, JT .
BLOOD, 2005, 105 (03) :1337-1342
[8]   Severe hypochromic microcytic anemia caused by a congenital defect of the iron transport pathway in erythroid cells [J].
Priwitzerova, M ;
Pospisilova, D ;
Prchal, JT ;
Indrak, K ;
Hlobilkova, A ;
Mihal, V ;
Ponka, P ;
Divoky, V .
BLOOD, 2004, 103 (10) :3991-3992