Linked Life Data

6199285

Source:http://linkedlifedata.com/resource/pubmed/id/6199285

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1984-3-30
pubmed:abstractText
An Algerian family with a high degree of consanguinity and including two homozygotes for Hb-G Philadelphia is presented. Whether homozygotes or heterozygotes, all subjects displayed microcytosis (with various degrees of poikilocytosis) and a moderately depressed alpha-globin chain synthesis. Hb H and Heinz bodies were absent. DNA mapping revealed the presence of a 3.7 kb deletion resulting from the rightward type of recombination event between alpha 2 and alpha 1 genes on both the alpha A/ and the alpha G/ chromosomes. Such data indicate that the -alpha A/ and -alpha G/ haplotypes are involved and suggest that the -alpha G/ haplotype, which is very rare in Algeria, has an African Black origin. In subjects with genotype (-alpha A/-alpha G) or (-alpha G/-alpha G), the output of the remaining alpha genes is sufficiently high to avoid the appearance of Hb H. This situation contrasts with that reported in an Algerian patient, who had a (-alpha A/-alpha A) genotype but who was producing Hb H (Whitelaw et al. 1980). The data collected from this family suggest that the -alpha A/ haplotypes are heterogeneous in Algerians.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0340-6717
pubmed:author
pubmed:issnType
Print
pubmed:volume
65
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
303-7
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1984
pubmed:articleTitle
Alpha-globin gene deletions associated with alpha A and alpha G Philadelphia in an Algerian family that includes two Hb G homozygotes.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't