TY - JOUR TI - A Novel εγδβ-Thalassemia Deletion Associated with Severe Anemia at Birth and a β-Thalassemia Intermedia Phenotype Later in Life in Three Generations of a Greek Family AU - Makis, A. AU - Georgiou, I. AU - Traeger-Synodinos, J. AU - Storino, M.R. AU - Giuliano, M. AU - Andolfo, I. AU - Hatzimichael, E. AU - Chaliasos, N. AU - Giapros, V. AU - Izzo, P. AU - Iolascon, A. AU - Grosso, M. JO - Hemoglobin: Interrnational Journal for Hemoglobin Research PY - 2019 VL - null TODO - null SP - null PB - Taylor and Francis Ltd. SN - 0363-0269 TODO - 10.1080/03630269.2019.1699568 TODO - null TODO - We describe a novel deletion causing heterozygous εγδβ-thalassemia (εγδβ-thal) across three generations of a Greek family. The Greek deletion is about 72 kb in length, spanning from the hypersensitive site 4 (HS4) in the locus control region (LCR) to the 3' end of the β-globin gene, thus encompassing the entire β-globin gene cluster. The deletion caused severe but transient neonatal anemia and a non transfusion-dependent chronic hemolytic anemia state later in life, resembling mild β-thalassemia intermedia (β-TI) rather than β-thalassemia (β-thal) trait, as had been previously reported. Apart from the presentation of clinical and laboratory characteristics, the challenges involving clinical management are also discussed. © 2019, © 2019 Informa UK Limited, trading as Taylor & Francis Group. ER -