Finally, a diagnosis of ε<i>γδβ</i> thalassemia was made after microarray analysis of single nucleotide polymorphisms revealed a 26 kb single copy loss of chromosome 11p15.4, including the <i>HBD, HBBP1, HBG1, and HBB</i> genes.<h4>Conclusions</h4>Despite its rarity, the diagnosis of ε<i>γδβ</i> thalassemia should be considered in newborns with severe neonatal anemia requiring in <i>utero</i> and/or neonatal transfusions, but also in older infants with microcytic anemia, after excluding more prevalent red blood cell disorders. The gene discussed is HBG1; the disease is thalassemia.