@article{3078893,
    title = "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",
    author = "Makis, A. and Georgiou, I. and Traeger-Synodinos, J. and Storino, M.R. and Giuliano, M. and Andolfo, I. and Hatzimichael, E. and Chaliasos, N. and Giapros, V. and Izzo, P. and Iolascon, A. and Grosso, M.",
    journal = "Hemoglobin:  Interrnational Journal for Hemoglobin Research",
    year = "2019",
    publisher = "Taylor and Francis Ltd.",
    issn = "0363-0269",
    doi = "10.1080/03630269.2019.1699568",
    abstract = "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."
}