Article
Genotype-phenotype relationship of the δ-thalassemia and Hb A(2) variants: observation of 52 genotypes.
Hemoglobin - 1 Jan 2010
Lacerra Giuseppina, Scarano Clelia, Lagona Laura F, Testa Rosario, Caruso Daniela G, Medulla Emilia, Friscia Maria G, Mastrullo Lucia, Caldora Mercedes, Prezioso Romeo, Gaudiano Carlo, Magnano Carmelo, Romeo Maria A, Musollino Gennaro, Di Noce Francesca, Carestia Clementina
Abstract excerpt
The increase of Hb A(2) (α2δ2) beyond the upper limit [2.0-2.2/3.3-3.4% of the total hemoglobin (Hb)] is an invaluable tool in the hematological screening of β-thalassemia (β-thal) carriers. Factors decreasing Hb A(2) percentages can hinder correct diagnosis. In order to analyze the genotype-phenotype relationship, we characterized δ-, β- and α-globin genotypes in 190 families where the probands had Hb A(2)...
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