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A β°‐thalassaernia due to a 1605 bp deletion of the 5‘β‐globin gene region
Author(s) -
Dimovski A. J.,
Efremov D. G.,
Jankovic L.,
Juricic D. Plaseska. D.,
Efremov G. D.
Publication year - 1993
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1993.tb08657.x
Subject(s) - gene , gene deletion , genetics , microbiology and biotechnology , hemoglobinopathy , biology , globin , hemolytic anemia , immunology , mutant
Summary. We studied a heterozygous β°‐thalassaemia patient from Croatia with an unusually high Hb A 2 level of 7.6% and an elevated Hb F level of 5.8%. The same condition was found in his father (Hb A 2 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.