Double Heterozygosity for Hb Durham-N.C. (: c.344T>C) [β114(G16)Leu→Pro] and the IVS-I-110 (: c.93-21G>A) Causing a Severe β-Thalassemia Phenotype.

The evaluation of a 10-month-old girl of Sicilian origin with a clinical phenotype of severe thalassemia led to the identification of two β-globin gene defects, a β-thalassemia (β-thal), mutation at IVS-I-110 (: c.93-21G>A) and a variant hemoglobin (Hb) mutation at codon 114 (: c.344T>C) on the other allele, reported as Hb Durham-N.