A retrospective anonymous pilot study in screening newborns forHFE mutations in Scandinavian populations

Merryweather‐Clarke, Alison T.; Simonsen, Henrik Toft; Shearman, Jeremy D.; Pointon, Jennifer J.; Nørgaard‐Pedersen, Bent; Robson, Kathryn

doi:10.1002/(sici)1098-1004(1999)13:2<154::aid-humu8>3.0.co;2-e

Cited by 52 publications

(20 citation statements)

References 33 publications

(40 reference statements)

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“…The prevalence of C282Y mutation is similar to that first reported (Baiget et al, 1998) and subsequently confirmed in Catalan blood donors (Sanchez et al, 2003) and in newborns from southern France (Aguilar-Martinez et al, 2001), the Czech Republic (Cimburova et al, 2002), and some areas of Italy with inhabitants of northern European ancestry (Salvioni et al, 2003). Nevertheless, the allelic frequency of this mutation in Catalan newborns seems to be lower than that recorded for Caucasian newborns in the United States (Steinberg et al, 2001), Ireland (Byrnes et al, 2001), Canada (Girouard et al, 2002), Denmark (Merryweather-Clarke et al, 1999), northern Portugal and northern France (Jouanolle et al, 1998;Cardoso et al, 2001), but higher than that observed in Italy in general (Restagno et al, 2000) and southern Portugal (Cardoso et al, 2001). Frequencies may vary in other regions of Spain with a different genetic background, as has been observed in Portugal, Italy, and France.…”

Section: Discussionsupporting

confidence: 81%

Prevalence of the C282Y, H63D, and S65C Mutations of theHFEGene in 1,146 Newborns from a Region of Northern Spain

Altés

Ruiz

Barceló³

et al. 2004

Genetic Testing

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In Spain, 85% of patients with genetic hemochromatosis (GH) are homozygous for the C282Y mutation of the HFE gene. H63D and S65C mutations of HFE may also play some role in the disease. The aim of this study was to establish the prevalence of C282Y, H63D, and S65C mutations of the HFE gene in newborns in Catalonia, Spain. One thousand one hundred forty-six newborn screening cards were selected randomly. DNA from these cards was extracted and HFE mutations were analyzed with the LightCycler equipment (Roche Diagnostics Gmbh, Mannheim, Germany). Sufficient DNA sample was obtained to screen for the three mutations in 1,043 cases (91%). The allelic frequencies of C282Y, H63D, and S65C mutations were 0.03 (IC 95% 0.022-0.037), 0.2 (IC 95% 0.19-0.22), and 0.01 (95% confidence interval [CI] 0.006-0.015), respectively. The frequency of C282Y homozygous newborns was 0.001 (95% CI 0.0005-0.0014). The frequencies of newborns doubly heterozygous for C282Y/H63D and C282Y/S65C were 0.01 (95% CI 0.005-0.02) and 0.002 (95% CI 0.0002-0.01), respectively. The allelic frequency of C282Y mutation is similar to that observed in Southern France, in the Czech Republic and in some areas of Italy. The allelic frequency of H63D mutation in Catalonia is the highest reported to date. Nevertheless, S65C is infrequent. These data should be kept in mind when designing hemochromatosis genotypic screening programs in Catalonia.

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Section: Discussionsupporting

confidence: 81%

Prevalence of the C282Y, H63D, and S65C Mutations of theHFEGene in 1,146 Newborns from a Region of Northern Spain

Altés

Ruiz

Barceló³

et al. 2004

Genetic Testing

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“…Global averages for countries inhabited by the West Slavs – dashed line, South Slavs – lower solid thick line, and East Slavs – upper solid thick line (references as in Table 1). Global averages for other countries – Austria (36), Denmark (37), Estonia (38,39), Finland (7,40-42), France (19,20), Greece (7), Germany (7-9), Hungary (43), Iceland (7,44), both (45), Ireland (6,7,46-48), Italy (7,12,13,15,16,49-52), Netherlands (53,54), Norway (7,55,56), Portugal (57), Romania (18), Spain (7,11,17,58-61), Sweden (40), Switzerland (62), Turkey (7), UK (6,7,63-67). n.d. – no data.…”

Section: Resultsmentioning

confidence: 99%

Prevalence of 845G>A HFE mutation in Slavic populations: an east-west linear gradient in South Slavs

Adler

Jw²,

Łoniewska³

et al. 2011

Croat Med J

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AimTo compare A allele frequencies of the 845G>A mutation of 10 Slavic populations in central, eastern, and southern Europe between each other and with other European populations.MethodsThe 845G>A mutation from the DNA of 400 Polish neonates collected in 2005-2006 was analyzed by polymerase chain reaction-restriction fragment length polymorphism. The data were compared with reports from other countries.ResultsWe identified 381 GG homozygotes, 18 GA heterozygotes, and 1 AA homozygote. The 845A allele frequency was 2.5%, which makes the summary figure for Poland from this and previous studies 3.5%. The average prevalence for Poland and other West Slavic countries was 3.6%, similar to Russia (inhabited by the East Slavs, 3.5%). The average prevalence in South Slavic countries was 2.2%, gradually decreasing from 3.6% in Slovenia to 0% in Bulgaria, with a longitudinal linear gradient (adjusted R2 = 0.976, P < 0.001).ConclusionsThe West and East Slavs, together with Finland, Estonia, Germany, Austria, Hungary, Slovenia, and Croatia, form a group with 845A allele frequencies between 3% and 4%. In the South Slavs, there is a gradual decline in the prevalence of 845A allele from northwest to southeast, with a surprisingly exact east-west linear gradient.

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“…C282Y mutation screening studies among healthy individuals18 20-22 and newborns19 23 have been reported recently. To our knowledge, ours is the first study of both the prevalence and phenotypic expression of C282Y mutation in a hospitalised population.…”

Section: Discussionmentioning

confidence: 99%

HFE gene mutation (C282Y) and phenotypic expression among a hospitalised population in a high prevalence area of haemochromatosis

Distante

Berg

Lande

et al. 2000

Gut

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Background-PreviousResults-Fourteen of the 1900 Caucasian subjects (0.74%) were homozygous and 224 (11.8%) were heterozygous for the C282Y mutation, including 32 subjects (1.7%) who were compound heterozygous for the C282Y and H63D mutations. Ten of 14 (71%) homozygous patients displayed mild to moderate biochemical expression of haemochromatosis with a serum ferritin level <550 µg/l, two (14%) patients were "non expressing", and two of five in whom liver biopsies were carried out had cirrhosis, including one with advanced hepatocellular carcinoma. Conclusions-The prevalence of C282Y homozygosity in a hospitalised population was 0.74%. However, the majority of homozygous patients displayed mild to moderate biochemical expression. C282Y mutation screening may detect individuals that do not develop haemochromatosis. Transferrin saturation and ferritin, which are used as first line screening in haemochromatosis, may be highly unreliable in the presence of an inflammatory process. (Gut 2000;47:575-579)

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A retrospective anonymous pilot study in screening newborns forHFE mutations in Scandinavian populations

Cited by 52 publications

References 33 publications

Prevalence of the C282Y, H63D, and S65C Mutations of theHFEGene in 1,146 Newborns from a Region of Northern Spain

Prevalence of the C282Y, H63D, and S65C Mutations of theHFEGene in 1,146 Newborns from a Region of Northern Spain

Prevalence of 845G>A HFE mutation in Slavic populations: an east-west linear gradient in South Slavs

HFE gene mutation (C282Y) and phenotypic expression among a hospitalised population in a high prevalence area of haemochromatosis

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