Article
Hb Wilde and Hb Patagonia: two novel elongated beta-globin variants causing dominant beta-thalassemia.
European journal of haematology - 1 Jun 2015
Scheps Karen G, Hasenahuer Marcia A, Parisi Gustavo, Fornasari María S, Pennesi Sandra P, Erramouspe Beatriz, Basack Felisa N, Veber Ernesto S, Aversa Luis, Elena Graciela, Varela Viviana
Abstract excerpt
We describe here the molecular and hematological characteristics of novel frameshift mutations in exon 2 of the HBB gene (in heterozygous state) found in two Argentinean pediatric patients with dominant β-thalassemia-like features. In Hb Wilde, HBB:c.270_273delTGAG(p.Glu90Cysfs*67), we detected the deletion of the third base of the codon 89 (T) and the codon 90 (GAG), whereas in Hb Patagonia,...
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