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A β°‐thalassaernia due to a 1605 bp deletion of the 5‘β‐globin gene region

Summary. We studied a heterozygous β°‐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′β‐globin gene region between positions —984/5 and +620/1. This deletion has not been observed among more than 500 P‐thalassaemia chromosomes from the Balkan countries studied in our laboratory.