Non‐HFE–related hemochromatosis

Recent advances in hemochromatosis: a 2015 update

“…H63D is of greater clinical interest [25,27,30,32]. Having a prevalence of 10-20 % in all non-Asian populations [9,25,32,39], H63D is rarely pathological on its own. It usually requires compound heterozygosity to cause symptomatic disease [9,30].…”

“…Whilst the prevalence is still higher, at 2 % of the Caucasian population, only 0.5-2 % of these people actually develop clinical disease [9,34]. The proportion of hemochromatosis patients with a compound H63D heterozygosity varies between countries: in northern Europe 2.4-5 % [9, 34, 36], 7.5-10 % in Spain and 23.4 % in Brazil [29,39]. Similar to C282Y homozygotes, a higher proportion of compound heterozygotes have elevated biochemical penetrance of iron overload without being clinically symptomatic [9].…”

Analysis of HFE mutations and non‐HFE gene mutations (TFR2 and SLC40A1) in patients with phenotypic hemochromatosis from the basque country

“…There are some countries, such as Portugal, Brazil, Italy, and the Basque Country (Spain), where genotypic frequencies of the typical mutations in the HFE gene are low [1][2][3][4][5][6][7]. In some of these countries, other HFE and non-HFE mutations associated with liver iron overload have been identified [9][10][11][12].…”

“…Recently, Castiella et al [3,10] in a historical cohort of patients with PH from the Deba Valley, Basque Country, Spain, found a 50% prevalence of the homozygous C282Y mutation, and 12.5% were compound heterozygous (C282Y/H63D). All of these reports suggest that, in the Basque Country, an important group of patients with PH exists (37.5%) who do not present the typical HFE gene mutations [12].…”

Hemocromatose hereditária: associação entre as mutações no gene HFE e o estado de ferro em doadores de sangue e pesquisa de mutações nos genes HFE, HJV, HAMP, TFR2 e SLC40A1 em pacientes com sobrecarga de ferro primária

“…Algumas mutações no gene HJV associadas à HJ foram descritas: p.G320V, p.R326X e p. I222N (PAPANIKOLAOU et al, 2004); p. I281T (HUANG et al, 2004); p.C80R e p.L101P (BARTON et al, 2002;LEE et al, 2004) e a deleção de 4pb a partir do nucleotídeo 980 (GEHRKE et al, 2005). Porém, a mutação p.G320V é a mais frequente em pacientes portadores da HJ em diversos países (LANZARA et al, 2004;LEE et al, 2004;PAPANIKOLAOU et al, 2004;AGUILAR-MARTINEZ et al, 2007;WALLACE e SUBRAMANIAM, 2007;CASTIELLA et al, 2010).…”