Linked Life Data

19380292

Source:http://linkedlifedata.com/resource/pubmed/id/19380292

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2009-4-21
pubmed:abstractText
Here we report a 33-years-old woman with hereditary spherocytosis and hemochromatosis due to homozygosity for the C282Y mutation of the HFE gene. The coinheritance of both conditions led to severe iron overload and liver cirrhosis at young age. The patient was treated by repeated phlebotomy, and reversibility of cirrhosis was documented by transient elastography. This report discusses the pathophysiology of iron accumulation in patients with hemolytic anemia combined with HFE C282Y homozygosity. The case indicates that patients with hematological disorders characterized by increased erythropoetic activity should be screened for HFE mutations.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0949-2321
pubmed:author
pubmed:issnType
Print
pubmed:day
16
pubmed:volume
14
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
182-4
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
Coinheritance of hereditary spherocytosis and reversibility of cirrhosis in a young female patient with hereditary hemochromatosis.
pubmed:affiliation
Department of Internal Medicine I, University Hospital Bonn, University of Bonn, Sigmund Freud Str. 25, 53105 Bonn, Germany. aksana.hoeblinger@ukb.uni-bonn.de
pubmed:publicationType
Journal Article, Case Reports