Haemochromatosis

Niederau, Claus; Stremmel, Wolfgang; Strohmeyer, G

doi:10.1007/978-3-642-71052-0_4

Cited by 1 publication

(2 citation statements)

References 104 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The risk of death as a direct consequence of liver cirrhosis is significantly increased in patients with hemochromatosis as compared to a matched normal population [12]. The risk of death from liver cancer in a patient with hemochromatosis is more than 100 times that of the matched healthy subjects [4].…”

Section: Discussionmentioning

confidence: 88%

“…In the H63D mutation, a G replaces C at nucleotide 187 of the gene (187C→G), causing aspartate to substitute for histidine at amino acid position 63 in the HFE protein [16]. In the last 10 years, studies performed in populations of largely Celtic descent showed that 60-100% of patients with typical HH were homozygotes for C282Y mutation [3,7,9,12,[15][16][17]19]. In the general population, compound heterozygote (C282Y/H63D) and homozygote H63D genotypes occur more frequently than homozygote C282Y, but these genotypes are responsible for only a small proportion of patients with iron loading [16].…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Screening for Iron Overload in the Turkish Population

Barut¹,

Balcı²,

Bozdayı

et al. 2003

Dig Dis

View full text Add to dashboard Cite

Background/Aims: Hereditary hemochromatosis (HH), the most common autosomal recessive disease in the white population, is characterized by excessive gastrointestinal absorption of iron and loading of parenchymal organs. HFE mutations of C282Y and H63D are largely responsible for HH in populations of Celtic ancestry. Although many screening studies related to HH have been done in Northern Europe, the USA and Australia, as yet, no such study has been published on Turkey. In this study we aimed to screen the Turkish population for iron overload. Methods: Random samples were obtained from 4,633 healthy adults (3,827 male, 806 female, mean age ± SD 35 ± 8 years, range 14–76) for the measurement of transferrin saturation (TS). Measurements were repeated after an overnight fast in the subjects whose initial TS was ≧50%. Serum ferritin levels and C282Y and H63D gene mutations were studied in cases when fasting TS was ≧50%. In cases where the serum ferritin level was >200 ng/ml with or without HFE mutations, liver biopsy was performed for histological evaluation and determination of iron content. Results: In 158 subjects, TS was ≧50% in the non-fasting state. A second determination of TS after an overnight fast was performed in 135 subjects. In 26 subjects, the TS was ≧50% in the fasting state. HFE mutation and serum ferritin levels were measured in these 26 subjects. Eleven subject (10 male, 1 female) were heterozygote and 1 male subject was homozygote in reference to H63D. C282Y mutation was not found. Four of these 26 subjects (all males, aged 23, 24, 40, 49) had increased serum ferritin levels and liver biopsy was performed. In 1 male (aged 49) who was heterozygote for H63D genotype with a serum ferritin level of 645 ng/ml, iron overload in liver tissue was shown by histology as well as atomic absorption spectrophotometry. Conclusion: The prevalence of hemochromatosis in the Turkish population is much lower in comparison to populations of Celtic ancestry and C282Y mutation is non-existent.

show abstract

Section: Discussionmentioning

confidence: 88%