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Diminished AγT fetal globin levels in Sardinian haplotype II β0-thalassaemia patients are associated with a four base pair deletion in the AγT promoter

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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DOI: 10.1111/j.1365-2141.1991.tb04390.x

Abstract

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.

Item Type:Article
ID Code:3103
Status:Published
Refereed:Yes
Uncontrolled Keywords:Fetal globin level, β0-thalassaemia, Sardinia
Subjects:Area 05 - Scienze biologiche > BIO/10 Biochimica
Area 06 - Scienze mediche > MED/38 Pediatria generale e specialistica
Divisions:001 Università di Sassari > 01 Dipartimenti > Scienze fisiologiche, biochimiche e cellulari
001 Università di Sassari > 01 Dipartimenti > Neuroscienze, scienze materno infantili
Publisher:Blackwell / Wiley
eISSN:1365-2141
Publisher Policy:© 2009 Blackwell Publishing
Deposited On:09 Oct 2009 10:30

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