A Novel (δβ)°-Thalassemia due to a ∼30-kb Deletion Observed in a Turkish Family

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Abstract
A new deletion of the β-globin gene cluster was characterized in a Turkish family. A 6-year-old male and his father were heterozygotes for this deletion. They presented with mild hypochromic microcytic anemia associated with elevated Hb F (15%) and normal Hb A2 levels (2.0%). This newly described Turkish type (δβ)°-thalassemia has a deletion of about 30 kb. The 5´ breakpoint of this deletion starts approximately 1.5 kb downstream of an enhancerlike sequence of the Aγ-globin gene. The 3´ endpoint is located in the L1 repeat sequence (KpnI site) 3´ to the β-globin gene. The new deletion (Turkish type 3) is quite similar to that of the Indian (δβ)°-thalassemia deletion in size and 5’ breakpoint. However, the 3´ endpoint in this new deletion is 2.5 kb shorter than the Indian type.

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