Linked Life Data

7137169

Source:http://linkedlifedata.com/resource/pubmed/id/7137169

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1982-12-18
pubmed:abstractText
Heavy iron loading is a rare clinical finding in patients with hereditary spherocytosis. A pedigree was studied in which the proband, a 38-year-old man, had both hereditary spherocytosis and overt hemochromatosis. He had never received blood transfusions. The 8-year-old son of the proband also had hereditary spherocytosis and mildly increased iron stores. The 39-year-old brother of the proband did not have spherocytosis but did have overt hemochromatosis. Since hemochromatosis is transmitted as an HLA-linked autosomal recessive disorder, HLA haplotypes serve as markers of hemochromatosis alleles. In this pedigree only individuals with two hemochromatosis alleles (homozygosity) had heavy iron loads, whether hereditary spherocytosis was present or not. The presence of hereditary spherocytosis may have contributed to the magnitude of the iron loading but was not a major factor. Our findings suggest that nontransfusional hemochromatosis found in association with hereditary spherocytosis is due primarily to homozygosity for hemochromatosis.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0361-8609
pubmed:author
pubmed:issnType
Print
pubmed:volume
13
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
101-9
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed:year
1982
pubmed:articleTitle
Iron overload in hereditary spherocytosis: association with HLA-linked hemochromatosis.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Case Reports