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  • Title: delta-Thalassemic phenotype due to two "novel" delta-globin gene mutations: CD11[GTC-->GGC (A8)-HbA2-Pylos] and CD 85[TTT-->TCT(F1)-HbA2-Etolia].
    Author: Drakoulakou O, Papapanagiotou E, Loutradi-Anagnostou A, Papadakis M.
    Journal: Hum Mutat; 1997; 9(4):344-7. PubMed ID: 9101295.
    Abstract:
    delta-Thalassemia reduces the expected HbA2 percentage, altering the normal as well as the beta-thalassemia trait phenotype. An attempt to elucidate the molecular basis of delta-thalassemia in the Greek population, revealed two cases with unknown molecular defects that presented low levels of HbA2 (about 1.5%). DNA sequence analysis of delta-globin gene identified two "novel" mutations in the coding regions of the gene; the cd11 (GTC-->GGC) resulting in the substitution of valine for glycine (:HbA2-Pylos) and the cd85(TTT-->TCT) resulting in the substitution of phenylalanine for serine (:HbA2-Etolia). Because these mutations are localized at the helical positions A8 and F1 of the HbA2 respectively, they potentially cause molecular instability of the tetramer, thus leading to reduced HbA2 percentage.
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