Document Detail


Hereditary hemochromatosis in north-eastern Romania.
MedLine Citation:
PMID:  21495455     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
METHODS: 1.To estimate the expectancy, we genotyped 200 persons for the most frequent mutations causing the disease: HFE-C282Y and HFE-H63D by PCR-RFLP. 2. To diagnose the disease phenotypically we determined plasma iron level, ferritin level and transferrin saturation index in 549 patients previously diagnosed as chronic hepatitis or cirrhosis and genotyped those with hemochromatosis phenotype.
RESULTS: 1. We found allelic frequencies of 1.75% and 13.25% for the HFE-C282Y and H63D mutant alleles respectively. From these frequencies we calculated that a severe case caused by a C282Y/C282Y homozygote can arise in 816 people and a mild case caused by a C282Y/H63D compound heterozygote can arise in 100 people 2. Among 549 patients we found 10 to have the phenotype of hemochromatosis and 3 out of the 10 were found to carry mutations: two in the HFE gene (one homozygous C282Y and one compound heterozygous C282Y/H63D) and one in the hemojuvelin (HJV) gene (a G320V).
Authors:
Pia-Manuela Voicu; Camelia Cojocariu; Elena Petrescu-Dănilă; C Stanciu; M Covic; M Rusu; Anca Trifan
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Publication Detail:
Type:  Journal Article; Multicenter Study    
Journal Detail:
Title:  Revista medico-chirurgicală̆ a Societă̆ţ̜ii de Medici ş̧i Naturaliş̧ti din Iaş̧i     Volume:  114     ISSN:  0048-7848     ISO Abbreviation:  Rev Med Chir Soc Med Nat Iasi     Publication Date:    2010 Oct-Dec
Date Detail:
Created Date:  2011-04-18     Completed Date:  2011-07-08     Revised Date:  2013-05-20    
Medline Journal Info:
Nlm Unique ID:  0413735     Medline TA:  Rev Med Chir Soc Med Nat Iasi     Country:  Romania    
Other Details:
Languages:  eng     Pagination:  982-7     Citation Subset:  IM    
Affiliation:
School of Medicine, Department of Biochemistry, Gr.T. Popa University of Medicine and Pharmacy Iaşi.
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MeSH Terms
Descriptor/Qualifier:
Adult
Early Diagnosis
Female
Ferritins / genetics
Gene Frequency
Genetic Markers / genetics
Genotype
Hemochromatosis / diagnosis*,  epidemiology,  genetics*,  metabolism
Heterozygote
Histocompatibility Antigens Class I / genetics*
Homozygote
Humans
Iron Overload / genetics
Male
Membrane Proteins / genetics*
Middle Aged
Mutation
Phenotype
Romania / epidemiology
Sampling Studies
Chemical
Reg. No./Substance:
0/Genetic Markers; 0/HFE protein, human; 0/Histocompatibility Antigens Class I; 0/Membrane Proteins; 9007-73-2/Ferritins

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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