A 6-year survey of HFE gene test for hemochromatosis diagnosis

被引：5

作者：

Mura, C ^{[1
]}

Raguénes, W ^{[1
]}

Scotet, V ^{[1
]}

Jacolot, S ^{[1
]}

Mercier, AY ^{[1
]}

Férec, C ^{[1
]}

机构：

[1] INSERM, Unite 613, UBO, F-29200 Brest, France

来源：

GENETICS IN MEDICINE | 2005年 / 7卷 / 01期

关键词：

hemochromatosis; HFE; diagnosis;

D O I：

10.1097/01.GIM.0000151153.21369.63

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Purpose: A 6-year survey of HFE gene test was conducted to evaluate its helpfulness for hereditary hemochromatosis diagnosis. Methods: We analyzed C282Y, H63D, and S65C mutations on 3525 individuals. Results: The test produced 89.7% and 30% of positive results for individuals clinically diagnosed hemochromatosis before HFE gene-test availability and those prospectively tested because of elevated serum iron parameter and/or family history, respectively; among them there were 90.4% and 48.7% of C282Y homozygotes. Conclusions: The HFE gene test confirmed a genetic defect that may lead to iron loading in individuals when iron parameter values, especially for the C282Y/C282Y, were still low as well as for genotypes usually associated with low expressivity and penetrance (C282Y/H63D, H63D/H63D). This gene-test should allow a biochemical follow-up of patients carrying a disease-related genotype.

引用

页码：68 / 73

页数：6

共 50 条

[21] Screening of the HFE Gene Mutations in Turkish Patients with Cryptogenic Cirrhosis and Hemochromatosis
Ozturk, Saffet
Dikici, Hilmi
Dincer, Dinc
Luleci, Guven
Keser, Ibrahim
TURKIYE KLINIKLERI TIP BILIMLERI DERGISI, 2010, 30 (06): : 1891 - 1895
[22] Bone mineral density in men with genetic hemochromatosis and HFE gene mutation
P. Guggenbuhl
Y. Deugnier
J. F. Boisdet
Y. Rolland
A. Perdriger
Y. Pawlotsky
G. Chalès
Osteoporosis International, 2005, 16 : 1809 - 1814
[23] Does bilirubin protect against hemochromatosis gene (HFE) related mortality?
Alizadeh, BZ
Njajou, OT
Houwing-Duistermaat, JJ
de Jong, G
Vergeer, JM
Hofman, A
Pols, HAP
van Duijn, CM
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2004, 129A (01) : 39 - 43
[24] BMP6 Treatment Compensates for the Molecular Defect and Ameliorates Hemochromatosis in Hfe Knockout Mice
Corradini, Elena
Schmidt, Paul J.
Meynard, Delphine
Garuti, Cinzia
Montosi, Giuliana
Chen, Shanzhuo
Vukicevic, Slobodan
Pietrangelo, Antonello
Lin, Herbert Y.
Babitt, Jodie L.
GASTROENTEROLOGY, 2010, 139 (05) : 1721 - 1729
[25] Hepatic iron overload - Direct HFE (HLA-H) mutation analysis vs quantitative iron assays for the diagnosis of hereditary hemochromatosis
Press, RD
Flora, K
Gross, C
Rabkin, JM
Corless, CL
AMERICAN JOURNAL OF CLINICAL PATHOLOGY, 1998, 109 (05) : 577 - 584
[26] The hemochromatosis gene. Molecular analysis - applications for diagnosis
Ferec, C
Raguenes, O
Mercier, AY
Le Faou, T
Chanu, B
Le Poupon, AM
Mercier, B
Mura, C
TRANSFUSION CLINIQUE ET BIOLOGIQUE, 1998, 5 (04) : 283 - 289
[27] Molecular diagnosis of HFE mutations in routine laboratories Results of a survey from reference laboratories in France
Jouanolle, Anne-Marie
Gerolami, Victoria
Ged, Cecile
Grandchamp, Bernard
Le Gac, Gerald
Pissard, Serge
Rochette, Jacques
Aguilar-Martinez, Patricia
ANNALES DE BIOLOGIE CLINIQUE, 2012, 70 (03) : 305 - 313
[28] Epidemiology and management of tinea capitis in France: A 6-year nationwide retrospective survey
Gangneux, Jean-Pierre
Miossec, Charline
Machouart, Marie
Gits-Muselli, Maud
Benderdouche, Mazouz
Ranque, Stephane
Botterel, Francoise
Brun, Sophie
MEDICAL MYCOLOGY, 2024, 62 (07)
[29] Frequency of human hemochromatosis (HFE) gene mutations in Egyptians with beta-thalassemia
Mokhtar, Doha A.
Hamdy, Mona M.
Badr, Ahmed M.
EGYPTIAN JOURNAL OF HAEMATOLOGY, 2013, 38 (01) : 36 - 40
[30] Hemochromatosis gene (HFE) mutations in South East Asia:: a potential for iron overload
Pointon, JJ
Viprakasit, V
Miles, KL
Livesey, KJ
Steiner, M
O'Riordan, S
Hien, TT
Merryweather-Clarke, AT
Robson, KJH
BLOOD CELLS MOLECULES AND DISEASES, 2003, 30 (03) : 302 - 306

← 1 2 3 4 5 →