Clinical and Molecular Aspects of Juvenile Hemochromatosis in Saguenay–Lac-Saint-Jean (Quebec, Canada)

Rivard, Sylvain R.; Mura, Catherine; Simard, Hervé; Simard, René; Grimard, Doria; Gac, Gérald Le; Raguénès, Odile; Férec, Claude; Braekeleer, Marc De

doi:10.1006/bcmd.2000.0271

Cited by 37 publications

(19 citation statements)

References 21 publications

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“…All French-Canadian patients homozygous for an identical haplotype 21 were homozygous for G320V, a previously reported mutation, reported to be common in a cohort of Greek patients with JH. 14 The same mutation was found in one patient from a Southern Italian village where a dialect resembling Greek is still spoken.…”

Section: Resultsmentioning

confidence: 83%

“…10,21 A summary of the clinical data related to the characterized mutations in patients is reported in Table 3.…”

Section: Resultsmentioning

confidence: 99%

“…Clinical findings were previously reported for most of these patients, 10 and mutations in hepcidin were excluded. 15 Seventeen French-Canadian affected individuals were from 12 families of the isolated region of Saguenay-Lac-Saint Jean (Quebec) 21 and were previously shown to have a disorder in linkage with the 1q locus. 13 All patients included in the study had a clinical diagnosis of JH according to the proposed criteria.…”

Section: Patientsmentioning

confidence: 99%

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Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis

Lanzara

Roetto²,

Daraio³

et al. 2004

Blood

169

125

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Section: Resultsmentioning

confidence: 83%

“…10,21 A summary of the clinical data related to the characterized mutations in patients is reported in Table 3.…”

Section: Resultsmentioning

confidence: 99%

Section: Patientsmentioning

confidence: 99%

See 1 more Smart Citation

Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis

Lanzara

Roetto²,

Daraio³

et al. 2004

Blood

169

125

View full text Add to dashboard Cite

“…However, the other, who began to present symptoms of panhypopituitarism at 20 years of age, carried none of these HFE mutations. This last patient now would probably be classified as having juvenile hemochromatosis, a hereditary iron overload syndrome characterized by an earlier onset of symptoms and a higher frequency of hypogonadotrophic hypogonadism and cardiac failure (38,39). This disease variant was thought to be restricted to Northern European Caucasians and was recently linked to genes in the long arm of chromosome 1 (40).…”

Section: Discussionmentioning

confidence: 99%

Analysis of HLA-A antigens and C282Y and H63D mutations of the HFE gene in Brazilian patients with hemochromatosis

Bittencourt

Palácios

Couto

et al. 2002

Braz J Med Biol Res

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The hemochromatosis gene, HFE, is located on chromosome 6 in close proximity to the HLA-A locus. Most Caucasian patients with hereditary hemochromatosis (HH) are homozygous for HLA-A3 and for the C282Y mutation of the HFE gene, while a minority are compound heterozygotes for C282Y and H63D. The prevalence of these mutations in non-Caucasian patients with HH is lower than expected. The objective of the present study was to evaluate the frequencies of HLA-A antigens and the C282Y and H63D mutations of the HFE gene in Brazilian patients with HH and to compare clinical and laboratory profiles of C282Y-positive and -negative patients with HH. The frequencies of HLA-A and C282Y and H63D mutations were determined by PCR-based methods in 15 male patients (median age 44 (20-72) years) with HH. Eight patients (53%) were homozygous and one (7%) was heterozygous for the C282Y mutation. None had compound heterozygosity for C282Y and H63D mutations. All but three C282Y homozygotes were positive for HLA-A3 and three other patients without C282Y were shown to be either heterozygous (N = 2) or homozygous (N = 1) for HLA-A3. Patients homozygous for the C282Y mutation had higher ferritin levels and lower age at onset, but the difference was not significant. The presence of C282Y homozygosity in roughly half of the Brazilian patients with HH, together with the findings of HLA-A homozygosity in C282Y-negative subjects, suggest that other mutations in the HFE gene or in other genes involved in iron homeostasis might also be linked to HH in Brazil.

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“…The disease in Salers cattle has features of early onset aggressive human HH described in Italian and Canadian families, which lack a recognized HFE mutation. 13,15,48,66 The major difference from juvenile HH in humans is that hepatic rather than cardiac failure dominates the clinical picture in Salers cattle. Additional studies may establish whether hemochromatosis cases in humans and in Salers cattle share a similar pathogenesis due to a common mutation affecting proteins involved in iron metabolism.…”

Section: Discussionmentioning

confidence: 99%

Hepatic Failure and Hemochromatosis of Salers and Salers-cross Cattle

et al. 2001

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Abstract. Hemochromatosis is rare in domestic mammals. Five clinical cases and one preclinical case of hemochromatosis were diagnosed in Salers and Salers-cross cattle. Clinical disease developed between 9 and 22 months of age. Animals were healthy until weaning but then lost weight, developed rough hair coats, and lost incisor teeth. In two animals, hemochromatosis was identified by liver biopsy, biochemical evidence of hepatic injury, and/or elevated transferrin saturation values. At necropsy, carcasses were thin, with firm dark brown livers and lymph nodes, soft bones, and brown-colored small bowel. The principal histologic changes were hepatocellular siderosis and periportal, bridging, and perivenular fibrosis. Siderocalcinosis involved collagen, elastin, reticulin, and basement membrane components in liver, lymph nodes, spleen, duodenum, and kidney. Hepatic iron concentrations in clinically affected cattle were 1,500-10,500 g/g wet weight (reference range for cattle ϭ Ͻ300 g/ g). Ultrastructurally, the heaviest intrahepatic deposition was in hepatocytes, which contained large intracytoplasmic siderosomes. Iron deposition in bone was associated with osteopenia. Genetic analysis indicated a common ancestral bull in the pedigrees of five of six affected cattle; no pedigree was available for the remaining animal. Four dams of five affected animals were phenotypically normal and had histologically normal livers. Test mating of four cows to the ancestral bull resulted in a female calf that developed clinicopathologic and histologic evidence of preclinical hemochromatosis by 40 days of age. It was not possible to establish the pattern of inheritance because of the small number of pedigrees from affected cattle.

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Clinical and Molecular Aspects of Juvenile Hemochromatosis in Saguenay–Lac-Saint-Jean (Quebec, Canada)

Cited by 37 publications

References 21 publications

Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis

Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis

Analysis of HLA-A antigens and C282Y and H63D mutations of the HFE gene in Brazilian patients with hemochromatosis

Hepatic Failure and Hemochromatosis of Salers and Salers-cross Cattle

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