Linked Life Data

14765621

Source:http://linkedlifedata.com/resource/pubmed/id/14765621

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2004-2-9
pubmed:abstractText
Mutations in the HFE gene have been shown to be strongly associated with hereditary haemochromatosis, an autosomal recessive disease of iron overloading. The majority of patients with hereditary haemochromatosis possess a homozygous mutation C282Y that disrupts the binding of the HFE gene with beta2 microglobulin and prevents its surface expression. Another HFE mutation H63D is known to increase the relative risk of developing hereditary haemochromatosis. This disease is rare in India although secondary haemochromatosis is commonly seen among children suffering from thalassaemia major. The status of HFE mutations has not been explored among Indians, particularly in patients with thalassaemia major. It is also possible that in India clinical haemochromatosis could be masked by iron deficiency.
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0970-258X
pubmed:author
pubmed:issnType
Print
pubmed:volume
16
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
309-10
pubmed:dateRevised
2009-7-30
pubmed:meshHeading
pubmed:articleTitle
Distribution of C282Y and H63D mutations in the HFE gene in healthy Asian Indians and patients with thalassaemia major.
pubmed:affiliation
Department of Transplant Immunology, All India Institute of Medical Sciences, Ansari Nagar, New Delhi 110029, India.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't