Linked Life Data

3576385

Source:http://linkedlifedata.com/resource/pubmed/id/3576385

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
10
pubmed:dateCreated
1987-6-11
pubmed:abstractText
HLA typing for the A and B loci was carried out in conjunction with measurements of iron status on 38 of the first-degree relatives of 8 patients suffering from idiopathic haemochromatosis (IHC). Seven of the 8 probands had the A3 allele, 2 in the homozygous form. Seven had the B7 allele and in 5 it was present with the A3 allele on the same chromosome. Six family members were diagnosed as homozygous for the HLA-linked iron-loading gene on the basis of genotype assessment, while 27 were assessed as being heterozygous. Five of the 6 homozygous subjects had developed significant iron overload. In contrast, disturbances of iron metabolism in the heterozygotes were mild and present in only 33%. Pseudodominant inheritance of IHC was noted in one family, presumably as the result of a homozygous/heterozygous mating. A pilot epidemiological survey was carried out on 222 Afrikaans-speaking men in an attempt to find affected individuals using the serum ferritin concentration as the screening test. One homozygous subject was identified (genotype A3, B7/A3, B7) and further family studies confirmed the presence of the HLA-linked iron-loading gene. These preliminary results suggest a disease frequency of about 4-5/1,000 in the Afrikaner population.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0256-9574
pubmed:author
pubmed:issnType
Print
pubmed:day
16
pubmed:volume
71
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
639-42
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1987
pubmed:articleTitle
Idiopathic haemochromatosis. Family studies and results of a pilot prevalence survey.
pubmed:publicationType
Journal Article