Abstract：
:Hereditary hemochromatosis (HH) is a frequent autosomal recessive disease which causes iron-overload of various organs. Of all northern European affected individuals, 90-95% show 1 of 3 known point mutations in the HFE gene. Symptoms and organs involved can vary considerably: Only a small fraction of the 200,000-400,000 persons affected in Germany develop the classical picture of liver cirrhosis and/or pancreatic fibrosis. Nevertheless, the life expectancy of persons with moderate or even subclinical symptoms is reduced, in many cases due to myocardial damage leading to cardiomyopathy with greatly increased risk of sudden cardiac death. Although the high prevalence of HH suggests that sudden cardiac death due to cardiac HH is a relatively common cause of death, the forensic literature lacks such reports. We present the case of sudden cardiac death in a young man with histological findings of massive cardial hemochromatosis which is characterized by the fact that none of the three known mutations for HH were found. This case demonstrates that genetic screening alone might not be sufficient to identify all persons at risk to developing HH.
journal_name
Int J Legal Medjournal_title
International journal of legal medicineauthors
Klintschar M,Stiller Ddoi
10.1007/s00414-004-0451-6subject
Has Abstractpub_date
2004-06-01 00:00:00pages
174-7issue
3eissn
0937-9827issn
1437-1596journal_volume
118pub_type
杂志文章abstract：:Genetic diversity indices and forensic parameters at 20 autosomal short tandem repeat (STR) loci were evaluated in 541 unrelated individuals of north-western Indian state Rajasthan. In total, 243 alleles were observed with an average of 12.15 alleles per locus. The most polymorphic and discriminative locus was Penta E...
journal_title：International journal of legal medicine
pub_type： 杂志文章
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journal_title：International journal of legal medicine
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journal_title：International journal of legal medicine
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journal_title：International journal of legal medicine
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journal_title：International journal of legal medicine
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journal_title：International journal of legal medicine
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journal_title：International journal of legal medicine
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更新日期：2000-01-01 00:00:00
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journal_title：International journal of legal medicine
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journal_title：International journal of legal medicine
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更新日期：1994-01-01 00:00:00
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journal_title：International journal of legal medicine
pub_type： 杂志文章
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journal_title：International journal of legal medicine
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journal_title：International journal of legal medicine
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journal_title：International journal of legal medicine
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