A novel deletion of the human b-globin gene cluster associated with the increased level of fetal hemoglobin (Hb F) in adult life has been demonstrated in a Thai family. A Thai girl who was mistakenly diagnosed as b-thalassemia/HbE is found to be the compound heterozygote of this mutation and Hb E. The heterozygous father had mild hypochromic and microcytic red blood cells and a high level of Hb F (23.2%). Polymorphic restriction sites in the b-globin gene cluster identified the homozygous alleles, which localized the deletion region between the wb-globin and the 3 0 b-globin genes. DNA polymerase that can amplify a long DNA template was employed to examine DNA fragment encompassing this deletion. A 11.3 kilobases (kb) of DNA deletion, beginning *3.1 kb 5 0 to the d-globin gene and end in the intron 2 of the b-globin gene was detected. DNA analysis revealed that this is a case of (db) 0 -thalassemia with a novel mutation, which can lead to a mild form of b-thalassemia upon interaction with Hb E. Am. J. Hematol. 82:155-161, 2007. V V C 2006 Wiley-Liss, Inc.
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