Linked Life Data

21796974

Source:http://linkedlifedata.com/resource/pubmed/id/21796974

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2011-7-29
pubmed:abstractText
A case-control study aimed to determine the prevalence of C282Y, H63D and S65C mutations of the HFE gene in beta-thalassaemia carriers and investigate their influence on iron absorption. A total of 41 beta-thalassaemia carriers and 40 control subjects without haemoglobinopathies were screened for the C282Y, H63D and S65C mutations by polymerase chain reaction-restriction fragment-length polymorphism. The iron status in these subjects was studied and correlated with the HFE gene mutations. H63D, S65C and C282Y allele frequencies were 30.5%, 13.4% and 7.3% respectively in beta-thalassaemia carriers and 10.0%, 2.5% and 0.0% respectively in the control group. Compound heterozygosis was found in 10 carriers (24.4%). The transferrin saturation level was high in compound heterozygote cases. Our study has shown that the HFEgene mutations are common in Egypt among beta-thalassaemia carriers compared with normal controls.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
1020-3397
pubmed:author
pubmed:issnType
Print
pubmed:volume
17
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
546-51
pubmed:meshHeading
pubmed:year
2011
pubmed:articleTitle
Role of HFE gene mutations on developing iron overload in beta-thalassaemia carriers in Egypt.
pubmed:affiliation
Department of Chemiakl and Clinical Pathology, University of Cairo, Cairo, Egypt. hamadani20@hotmail.com
pubmed:publicationType
Journal Article