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.
A Novel epsilon gamma delta beta-Thalassemia Deletion Associated with Severe Anemia at Birth and a beta-Thalassemia Intermedia Phenotype Later in Life in Three Generations of a Greek Family / 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.. - In: HEMOGLOBIN. - ISSN 0363-0269. - (2021), pp. 1-4. [10.1080/03630269.2019.1699568]
A Novel epsilon gamma delta beta-Thalassemia Deletion Associated with Severe Anemia at Birth and a beta-Thalassemia Intermedia Phenotype Later in Life in Three Generations of a Greek Family
Storino M. R.;Andolfo I.;Iolascon A.;Grosso M.
2021
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.