Linked Life Data

8338770

Source:http://linkedlifedata.com/resource/pubmed/id/8338770

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1993-9-2
pubmed:abstractText
Increased haemoglobin (Hb) A2 levels associated with reduced mean corpuscular volume (MCV) and Hb content per cell (MCH) are the most typical features of heterozygous beta thalassaemia. However, double heterozygotes for alpha and beta thalassaemia may have normal MCV and MCH but Hb A2 always in the carrier range. In this report we describe two Sardinian families who have increased Hb A2 levels, normal red blood cell indices and normal globin chain synthesis and in whom DNA sequence analysis of beta and delta globin genes did not reveal any abnormality. Our findings demonstrate the existence of a genetic trait not resulting from a defect of the beta globin gene cluster, transmitted in a dominant manner and manifested as isolated increase of Hb A2.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0007-1048
pubmed:author
pubmed:issnType
Print
pubmed:volume
84
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
166-8
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1993
pubmed:articleTitle
Normal individuals with high Hb A2 levels.
pubmed:affiliation
Clinica e Biologia Età Evolutiva, Università di Cagliari, Ospedale Regionale Microcitemie, USL21, Italy.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't