New TFR2 mutations in young Italian patients with hemochromatosis

被引：27

作者：

Biasiotto, Giorgio ^{[1
]}

Camaschella, Clara ^{[2
]}

Forni, Gian Luca ^{[3
]}

Polotti, Anna ^{[1
]}

Zecchina, Gabriella ^{[4
]}

Arosio, Paolo ^{[1
]}

机构：

[1] Univ Brescia, AO Spedali Civili Brescia, Dipartimento Materno Infantile & Tecnol Biomed, Brescia, Italy

[2] Univ Vita Salute San Raffaele, Milan, Italy

[3] Osped Galliera, Ctr Microcitemia & Anemie Congenite, Genoa, Italy

[4] Univ Torino, Dipartimento Sci Clin & Biol, Turin, Italy

来源：

HAEMATOLOGICA | 2008年 / 93卷 / 02期

关键词：

hemochromatosis; iron overload; DHPLC;

D O I：

10.3324/haematol.11942

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

This work describes the identification of two subjects with young-age iron overload carrying new causative mutations in transferrin receptor-2 gene. One was compound heterozygous (Asn411del/Ala444Thr) and the second was homozygous for a mutation affecting RNA splicing (IVS17+5636G>A). Another mutation (His33Asn) and a polymorphism were found in a group of 50 controls.

引用

页码：309 / 310

页数：2

共 10 条

[1] Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload
Biasiotto, G
Belloli, S
Ruggeri, G
Zanella, I
Gerardi, G
Corrado, M
Gobbi, E
Albertini, A
Arosio, P
[J]. CLINICAL CHEMISTRY, 2003, 49 (12) : 1981 - 1988
[2] The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22
Camaschella, C
Roetto, A
Cali, A
De Gobbi, M
Garozzo, G
Carella, M
Majorano, N
Totaro, A
Gasparini, P
[J]. NATURE GENETICS, 2000, 25 (01) : 14 - 15
[3] Understanding iron homeostasis through genetic analysis of hemochromatosis and related disorders
Camaschella, C
[J]. BLOOD, 2005, 106 (12) : 3710 - 3717
[4] Camaschella C, 1997, GENEREVIEWS GENETEST
[5] Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene
Girelli, D
Bozzini, C
Roetto, A
Alberti, F
Daraio, F
Colombari, R
Olivieri, O
Corrocher, R
Camaschella, C
[J]. GASTROENTEROLOGY, 2002, 122 (05) : 1295 - 1302
[6] Mutation analysis of transferrin-receptor 2 in patients with atypical hemochromatosis
Hofmann, WK
Tong, XJ
Ajioka, RS
Kushner, JP
Koeffler, HP
[J]. BLOOD, 2002, 100 (03) : 1099 - 1100
[7] A novel mutation of transferrin receptor 2 in a Taiwanese woman with type 3 hemochromatosis
Hsiao, PiJung
Tsai, Kun-Bow
Shin, Shyi-Jang
Wang, Chlao-Lin
Lee, Shu-Ting
Lee, Jong-Feng
Kuo, Kung-Kai
[J]. JOURNAL OF HEPATOLOGY, 2007, 47 (02) : 303 - 306
[8] Koyama C, 2005, HAEMATOLOGICA, V90, P302
[9] Early onset hereditary hemochromatosis resulting from a novel TFR2 gene nonsense mutation (R105X) in two siblings of north French descent
Le Gac, G
Mons, F
Jacolot, S
Scotet, V
Férec, C
Frébourg, T
[J]. BRITISH JOURNAL OF HAEMATOLOGY, 2004, 125 (05) : 674 - 678
[10] New mutations inactivating transferrin receptor 2 in hemochromatosis type 3
Roetto, A
Totaro, A
Piperno, A
Piga, A
Longo, F
Garozzo, G
Calì, A
De Gobbi, M
Gasparini, P
Camaschella, C
[J]. BLOOD, 2001, 97 (09) : 2555 - 2560

← 1 →