A-GREATER-THAN-200 KB DELETION REMOVING THE ENTIRE BETA-LIKE GLOBIN GENE-CLUSTER IN A FAMILY OF IRISH DESCENT

作者：FORTINA P^*; DELGROSSO K; WERNER E; HAINES K; RAPPAPORT E; SCHWARTZ E; SURREY S

来源：Hemoglobin, 1991, 15(1-2): 23-41.

DOI：10.3109/03630269109072482

We describe a new deletional form of gamma-delta-beta-thalassemia segregating in two generations of a family of Irish descent. Affected family members present with a beta-thalassemia minor phenotype, normal Hb A2 and Hb F levels. Genomic blotting analyses on DNA from affected family members show heterozygosity for a large deletion beginning at least 15 kb upstream of the 5' endpoint of the gamma-delta-beta-thalassemia-1 deletion, extending through the entire beta-like globin gene cluster, and continuing for at least 10 kb beyond the 3' endpoint of the deletion associated with the Spanish form of delta-beta-0-thalassemia. This deletion is among the largest described so far, and removes at least 205 kb encompassing the entire beta-like globin gene cluster on chromosome 11.

• 出版日期1991