Linked Life Data

17038017

Source:http://linkedlifedata.com/resource/pubmed/id/17038017

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2007-2-16
pubmed:abstractText
A young woman originally from Cape Verde islands presented with mild sickle cell disease. Her blood counts and hemoglobin analysis results initially suggested that she might be either homozygous for the sickle cell hemoglobin (Hb S) with concomitant alpha-thalassemia, or compound heterozygous for Hb S and beta0-thalassemia, deletional deltabeta-thalassemia or hereditary persistence of fetal hemoglobin (HPFH). We utilized a novel polymerase chain reaction (PCR)-based screening technique and found a hitherto unrecognized 7.7-kb deletion, starting from the HBB IVSII to 3' downstream of the beta-globin gene. This diagnostic approach can be applied to decipher other similar deletional mutations. This is the second known deletion that removes the 3'-end but preserves the integrity of the 5'-end of the beta-globin gene. Furthermore, the identification of the deletion allows proper genetic counseling for affected families.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
0902-4441
pubmed:author
pubmed:issnType
Print
pubmed:volume
78
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
82-5
pubmed:dateRevised
2007-12-3
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
Sickle cell disease due to compound heterozygosity for Hb S and a novel 7.7-kb beta-globin gene deletion.
pubmed:affiliation
Hemoglobin Diagnostic Reference Laboratory, Boston Medical Center, Boston, MA 02118, USA.
pubmed:publicationType
Journal Article, Case Reports, Research Support, N.I.H., Extramural