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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
10
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pubmed:dateCreated |
2004-10-11
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pubmed:abstractText |
Hereditary hyperferritinaemia-cataract syndrome (HHCS) is an autosomal dominant trait associated with mutations in the iron responsive element (IRE) of the ferritin light-chain (L-ferritin) gene. Patients typically show elevated serum ferritin concentrations without iron overload and a bilateral cataract. Hyperferritinaemia can be associated with granulocyte dysfunction in patients with thalassemia beta and in haemodialysis patients. The effect of increased L-ferritin levels on granulocyte function in patients with HHCS is unknown.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
0014-2972
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
34
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
701-8
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:15473895-Adolescent,
pubmed-meshheading:15473895-Adult,
pubmed-meshheading:15473895-Apoptosis,
pubmed-meshheading:15473895-Cataract,
pubmed-meshheading:15473895-Chemotaxis, Leukocyte,
pubmed-meshheading:15473895-Female,
pubmed-meshheading:15473895-Ferritins,
pubmed-meshheading:15473895-Glucose,
pubmed-meshheading:15473895-Granulocytes,
pubmed-meshheading:15473895-Humans,
pubmed-meshheading:15473895-Iron Metabolism Disorders,
pubmed-meshheading:15473895-Male,
pubmed-meshheading:15473895-Middle Aged,
pubmed-meshheading:15473895-Neutrophils,
pubmed-meshheading:15473895-Pedigree,
pubmed-meshheading:15473895-Phagocytosis,
pubmed-meshheading:15473895-Respiratory Burst,
pubmed-meshheading:15473895-Syndrome
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pubmed:year |
2004
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pubmed:articleTitle |
Granulocyte function in patients with L-ferritin iron-responsive element (IRE) 39C-->T-positive hereditary hyperferritinaemia-cataract syndrome.
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pubmed:affiliation |
Medizinische Universität Wien, Vienna, Austria. robert.fritsche-polanz@meduniwien.ac.at
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pubmed:publicationType |
Journal Article
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