Mild Thalassemia Intermedia Due to Interaction of δβ-Thalassemia with Triplicated α-Globin Genes.

Abstract excerpt

Here we report a Spanish family in which two members, mother and daughter, present with a phenotype of mild non transfusion-dependent thalassemia (NTDT) due to compound heterozygosity for δβ-thalassemia (δβ-thal) and the α gene triplication ααα-3.7. They carry the most prevalent form of δβ-thal in Spain, the so-called Spanish δβ0-thal, which consists of a deletion of 114 kb that affects the δ and β genes. A mild...

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