Τίτλος:
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
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
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.
Συγγραφείς:
Makis, A.
Georgiou, I.
Traeger-Synodinos, J.
Storino, M.R.
Giuliano, M.
Andolfo, I.
Hatzimichael, E.
Chaliasos, N.
Giapros, V.
Izzo, P.
Iolascon, A.
Grosso, M.
Περιοδικό:
Hemoglobin: Interrnational Journal for Hemoglobin Research
Εκδότης:
Taylor and Francis Ltd.
DOI:
10.1080/03630269.2019.1699568
