Molecular and hematologic characterization of Scottish-Irish type (epsilon gamma delta beta)zero thalassemia.
The DNA deletion associated with an example of (epsilon gamma delta beta)zero thalassemia (Scottish-Irish type) was characterized. The deletion is approximately 205 kb in length and involves the epsilon, G gamma, A gamma, delta, and beta globin genes. The breakpoint is located 263 bp 3' to exon 3 of the beta globin gene. An LI (KpnI) repeat element approximately 320 bp in size is found at the 3' end of the novel DNA sequence. Different clinical phenotypes for three heterozygous neonates suggest that the deletion alone does not predict severity of (epsilon gamma delta beta)zero thalassemia at this age.
Trent
R J
RJ
Clinical Immunology Research Centre, University of Sydney, New South Wales, Australia.
Williams
B G
BG
Kearney
A
A
Wilkinson
T
T
Harris
P C
PC
D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000368:Aged; D001483:Base Sequence; D001772:Blood Cell Count; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D004247:DNA / Q000235:genetics; D005260:Female; D005914:Globins / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007494:Ireland; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D010375:Pedigree; D010641:Phenotype; D011863:Radioimmunoassay; D012606:Scotland; D013789:Thalassemia / Q000097:blood / Q000235:genetics* / Q000473:pathology
D005914:Globins; D004247:DNA