Linked Life Data

10792479

Source:http://linkedlifedata.com/resource/pubmed/id/10792479

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2000-7-14
pubmed:abstractText
Haemophilia B is an X-linked disease affecting 1 in 30 000 males. Carrier diagnosis is usually carried out only in female relatives of haemophilic males, and the likelihood of discovering a carrier without a haemophilic male is very low. In this report we present the cases of two related women without a family history of haemophilia who were diagnosed as haemophilia B carriers. Following a minor haemorrhage in the proband, she and her mother were thought to be haemophilia B carriers because of a low factor IX level (16 and 23 IU dL-1, respectively; normal values >50 IU dL-1). The non-sense mutation C31118T, which is associated with severe haemophilia B, was detected in both women. This allowed us to diagnose them as being definite carriers of severe haemophilia B and give appropriate genetic counselling.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
1351-8216
pubmed:author
pubmed:issnType
Print
pubmed:volume
6
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
195-7
pubmed:dateRevised
2009-10-21
pubmed:meshHeading
pubmed:year
2000
pubmed:articleTitle
Diagnosis of two related carriers of severe haemophilia B with no family history.
pubmed:affiliation
Unidad de Coagulopatías Congénitas, Hospital 'La Fe', Valencia, Spain. jlorenzoh@aehh.org
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't