Low prevalence of hereditary hemochromatosis in multiethnic populations in Northern Norway

被引:8
作者
Broderstad, Ann R. [1 ,2 ]
Smith-Sivertsen, Tone [3 ]
Dahl, Inger Marie [2 ]
Ingebretsen, Ole Christian [4 ]
Lund, Eiliv [1 ]
机构
[1] Univ Tromso, Inst Community Med, N-9037 Tromso, Norway
[2] Univ Hosp No Norway, Dept Med, Harstad, Norway
[3] Univ Bergen, Inst Community Med, N-5020 Bergen, Norway
[4] Univ Hosp No Norway, Dept Clin Chem, Tromso, Norway
关键词
Ferritin; hereditary hemochromatosis; Kven; Sami; transferrin saturation; IRON-OVERLOAD; HFE C282Y; PENETRANCE; MUTATIONS; HEIRS; H63D; AGE;
D O I
10.3109/00365521.2010.525713
中图分类号
R57 [消化系及腹部疾病];
学科分类号
摘要
Objective. Hereditary hemochromatosis has an autosomal recessive inheritance. The C282Y homozygosity is the most common genetic mutation in persons of Northern European descent. A screen of two multiethnic populations in Northern Norway was performed to investigate whether the prevalence of hereditary hemochromatosis was consistent with previous results in Northern Europe. Material and methods. Participants in two population-based studies in Northern Norway were analyzed for serum ferritin (s-ferritin) and transferrin saturation. Participants with s-ferritin or transferrin saturation above the reference limits in two separate blood samples were tested for three different HFE mutations, namely C282Y, H63D and S65. Results. The estimated prevalence of the C282Y/C282Y mutation in the two municipalities studied was lower than in comparable studies in Norway. The prevalence was the lowest in the S circle divide or-Varanger population (men 0.19% and women 0.22%), which also had the highest proportion of individuals with Sami and Kven affiliation. In Troms circle divide o, the prevalence was consistent with previous results in Norway. Conclusions. The prevalence of hereditary hemochromatosis is lower in multiethnic populations in Northern Norway than in previous studies from other parts of Norway.
引用
收藏
页码:350 / 357
页数:8
相关论文
共 26 条
[1]   Hemochromatosis and iron-overload screening in a racially diverse population [J].
Adams, PC ;
Reboussin, DM ;
Barton, JC ;
McLaren, CE ;
Eckfeldt, JH ;
McLaren, GD ;
Dawkins, FW ;
Acton, RT ;
Harris, EL ;
Gordeuk, VR ;
Leiendecker-Foster, C ;
Speechley, M ;
Snively, BM ;
Holup, JL ;
Thomson, E ;
Sholinsky, P ;
Acton, RT ;
Barton, JC ;
Dixon, D ;
Rivers, CA ;
Tucker, D ;
Ware, JC ;
McLaren, CE ;
McLaren, GD ;
Anton-Culver, H ;
Baca, JA ;
Bent, TC ;
Brunner, LC ;
Dao, MM ;
Jorgensen, KS ;
Kuniyoshi, J ;
Le, HD ;
Masatsugu, MK ;
Meyskens, FL ;
Morohashi, D ;
Nguyen, HP ;
Panagon, SN ;
Phung, C ;
Raymundo, V ;
Ton, T ;
Walker, AP ;
Wenzel, LB ;
Ziogas, A ;
Adams, PC ;
Bloch, E ;
Chakrabarti, S ;
Fleischhauer, A ;
Harrison, H ;
Jia, K ;
Larson, S .
NEW ENGLAND JOURNAL OF MEDICINE, 2005, 352 (17) :1769-1778
[2]   Hemochromatosis mutations in the general population: iron overload progression rate [J].
Andersen, RV ;
Tybjaerg-Hansen, A ;
Appleyard, M ;
Birgens, H ;
Nordestgaard, BG .
BLOOD, 2004, 103 (08) :2914-2919
[3]  
Åsberg A, 2001, SCAND J GASTROENTERO, V36, P1108
[4]   HFE C282Y Homozygotes aged 25-29 years at HEIRS study initial screening [J].
Barton, James C. ;
Acton, Ronald T. ;
Leiendecker-Foster, Catherine ;
Lovato, Laura ;
Adams, Paul C. ;
Mclaren, Gordon D. ;
Eckfeldt, John H. ;
Mclaren, Christine E. ;
Reboussin, David M. ;
Gordeuk, Victor R. ;
Speechley, Mark R. ;
Reiss, Jacob A. ;
Press, Richard D. ;
Dawkins, Fitzroy W. .
GENETIC TESTING, 2007, 11 (03) :269-275
[5]   Ethnic differences in the HFE codon 282 (Cys/Tyr) polymorphism [J].
Beckman, LE ;
Saha, N ;
Spitsyn, V ;
VanLandeghem, G ;
Beckman, L .
HUMAN HEREDITY, 1997, 47 (05) :263-267
[6]   Prevalence of hemochromatosis among first-time and repeat blood donors in Norway [J].
Bell, H ;
Thordal, C ;
Raknerud, N ;
Hansen, T ;
Bosnes, V ;
Halvorsen, R ;
Heier, HE ;
Try, K ;
Leivestad, T ;
Thomassen, Y .
JOURNAL OF HEPATOLOGY, 1997, 26 (02) :272-279
[7]   Penetrance of 845G→A (C282Y) HFE hereditary haemochromatosis mutation in the USA [J].
Beutler, E ;
Felitti, VJ ;
Koziol, JA ;
Ho, NJ ;
Gelbart, T .
LANCET, 2002, 359 (9302) :211-218
[8]   The effect of HFE genotypes on measurements of iron overload in patients attending a health appraisal clinic [J].
Beutler, E ;
Felitti, V ;
Gelbart, T ;
Ho, N .
ANNALS OF INTERNAL MEDICINE, 2000, 133 (05) :329-337
[9]  
Bhopal R., 2002, CONCEPTS EPIDEMIOLOG
[10]   Iron status in a multiethnic population (age 36-80 yr) in northern Norway: the SAMINOR study [J].
Broderstad, Ann Ragnhild ;
Melhus, Marita ;
Lund, Eiliv .
EUROPEAN JOURNAL OF HAEMATOLOGY, 2007, 79 (05) :447-454