Article
Beta-thalassaemia-87 C-->G: relationship of the Hb F modulation and polymorphisms in compound heterozygous patients.
British journal of haematology - 1 Sept 2004
De Angioletti Maria, Lacerra Giuseppina, Pagano Leonilde, Alessi Mario, D'Avino Rossana, Manca Laura, Carestia Clementina
Abstract excerpt
A clinical, haematological, biochemical and molecular study was carried out in 17 patients affected with thalassaemia intermedia, who were compound heterozygotes for the beta-thalassaemia mutation beta-87 C-->G to determine the genetic basis of their clinical heterogeneity. The beta-87 was found associated with haplotype VIII (beta-87/VIII) or V (beta-87/V). The 10 patients with the beta-87/VIII showed milder...
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