Manca, Laura and Cocco, Elena and Gallisai, Domenico Pietro Paolo and Masala, Bruno Lucio and Gilman, John G. (1991) Diminished AγT fetal globin levels in Sardinian haplotype II β0-thalassaemia patients are associated with a four base pair deletion in the AγT promoter. British Journal of Haematology, Vol. 78 (1), p. 105-107. eISSN 1365-2141. Article.
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In Sardinia, the β-39 nonsense mutation is the primary cause of β0-thalassaemia. This mutation is found mainly on β-globin gene cluster haplotypes I and II, which differ in their Aγ globin types (AγI and AγT, respectively). This report presents data on Gγ, AγI and AγT levels, and the presence or absence of a 4 base pair (bp) deletion at -225 to -222 of the Aγ globin promoter, in 55 poly-transfused β0-thalassaemia major patients. Six patients were homozygotes for the normal (N) Aγ promoter lacking the 4 bp deletion, had no AγT globin, and their mean Gγ:AγI:AγT ratio was 52•9:47•1:0. Twenty-five patients were homozygotes for the mutant (M) Aγ promoter with the 4 bp deletion, had no AγI globin, and the mean Gγ:AγI:AγT ratio was 62•1:0:37•9. For M/M compared to N/N, the lower AγT than AγI was significant by the t-test (P<0•001). Twenty-four N/M cases had mean Gγ:AγI:AγT of 56:24•4:19•6, and the lower AγT than AγI was also significant (P<0•001). Partial haplotype analysis on these and 17 other β0-thalassaemia patients suggested that the 4 bp deletion was strongly associated with haplotype II. Of 33 M/M, 32 were haplotype II/II and one was II/5a; of 31 N/M, 29 were I/II and two were II/IX; of eight N/N, seven were haplotype I/I and one was I/IX. These data show a strong association of the 4 bp promoter deletion with decreased expression of the AγT globin gene on haplotype II.
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