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

We describe a novel deletion causing heterozygous epsilon gamma delta beta-thalassemia (epsilon gamma delta beta-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 beta-globin gene, thus encompassing the entire beta-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 beta-thalassemia intermedia (beta-TI) rather than beta-thalassemia (beta-thal) trait, as had been previously reported. Apart from the presentation of clinical and laboratory characteristics, the challenges involving clinical management are also discussed.

Automated summary

This study describes a novel deletion causing heterozygous epsilon gamma delta beta-thalassemia in a Greek family across three generations. The deletion led to severe but transient neonatal anemia and later in life non transfusion-dependent chronic hemolytic anemia. The challenges involving clinical management are also discussed, highlighting the unique characteristics of this type of thalassemia.