A beta-thalassemia mutant caused by a 300-bp deletion in the human beta-globin gene.
Larger deletions are a rare cause of beta-thalassemia. We report a further instance of a deletion comprising about 300 bp in a female heterozygote. Exon 1, part of IVS-1 and the 5' beta-globin gene promotor region are lost.
Aulehla-Scholz
C
C
Institut für Humangenetik der Universität, Münster, Federal Republic of Germany.
Spiegelberg
R
R
Horst
J
J
D015139:Blotting, Southern; D002872:Chromosome Deletion; D005260:Female; D005914:Globins / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D013789:Thalassemia / Q000235:genetics*
D005914:Globins