Linked Life Data

14715623

Source:http://linkedlifedata.com/resource/pubmed/id/14715623

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
9
pubmed:dateCreated
2004-4-20
pubmed:abstractText
Although beta thalassemia is considered to be a classic monogenic disease, it is clear that there is considerable clinical variability between patients who inherit identical beta globin gene mutations, suggesting that there may be a variety of genetic determinants influencing different clinical phenotypes. It has been suggested that variations in the structure or amounts of a highly expressed red cell protein (alpha hemoglobin stabilizing protein [AHSP]), which can stabilize free alpha globin chains in vitro, could influence disease severity in patients with beta thalassemia. To address this hypothesis, we studied 120 patients with Hb E-beta thalassemia with mild, moderate, or severe clinical phenotypes. Using gene mapping, direct genomic sequencing, and extended haplotype analysis, we found no mutation or specific association between haplotypes of AHSP and disease severity in these patients, suggesting that AHSP is not a disease modifier in Hb E-beta thalassemia. It remains to be seen if any association between AHSP and clinical severity is present in other population groups with a high frequency of beta thalassemia.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0006-4971
pubmed:author
pubmed:issnType
Print
pubmed:day
1
pubmed:volume
103
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
3296-9
pubmed:dateRevised
2010-12-17
pubmed:meshHeading
pubmed:year
2004
pubmed:articleTitle
Evaluation of alpha hemoglobin stabilizing protein (AHSP) as a genetic modifier in patients with beta thalassemia.
pubmed:affiliation
Department of Pediatrics and Siriraj-Thalassemia Research Program, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand. vip@hammer.imm.ox.ac.uk
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't