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

Hemoglobin. 2021 Nov;45(6):351-354. doi: 10.1080/03630269.2019.1699568. Epub 2019 Dec 12.


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.

Keywords: Anemia; molecular diagnosis; εγδβ-thalassemia (εγδβ-thal).

Publication types

  • Case Reports

MeSH terms

  • Greece
  • Humans
  • Phenotype
  • Thalassemia* / genetics
  • beta-Globins / genetics
  • beta-Thalassemia* / diagnosis
  • beta-Thalassemia* / genetics


  • beta-Globins