A beta zero-thalassaemia due to a 1605 bp deletion of the 5' beta-globin gene region.
We studied a heterozygous beta zero-thalassaemia patient from Croatia with an unusually high Hb A2 level of 7.6% and an elevated Hb F level of 5.8%. The same condition was found in his father (Hb A2 8.2%; Hb F 8.5%). Gene mapping and direct sequencing analyses revealed a new deletion of 1605 bp in the 5' beta-globin gene region between positions -984/5 and +620/1. This deletion has not been observed among more than 500 beta-thalassaemia chromosomes from the Balkan countries studied in our laboratory.
Dimovski
A J
AJ
Macedonian Academy of Sciences and Arts Research Centre for New Technologies, Skopje, Macedonia.
Efremov
D G
DG
Jankovic
L
L
Plaseska
D
D
Juricic
D
D
Efremov
G D
GD
D000328:Adult; D001483:Base Sequence; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D004247:DNA / Q000737:chemistry; D005914:Globins / Q000235:genetics*; D006454:Hemoglobins / Q000032:analysis; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D017086:beta-Thalassemia / Q000097:blood / Q000235:genetics*
D006454:Hemoglobins; D005914:Globins; D004247:DNA