AUTHOR=Fotzi Ilaria , Pegoraro Francesco , Chiocca Elena , Casini Tommaso , Mogni Massimo , Veltroni Marinella , Favre Claudio 

TITLE=Case Report: Clinical and Hematological Characteristics of εγδβ Thalassemia in an Italian Patient

JOURNAL=Frontiers in Pediatrics

VOLUME=10

YEAR=2022

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2022.839775

DOI=10.3389/fped.2022.839775

ISSN=2296-2360

ABSTRACT=<sec><title>Introduction</title><p>ε<italic>γδβ</italic> thalassemia is a rare form of β-thalassemia mostly described in children originating from Northern Europe. Only anecdotic cases from the Mediterranean area are reported. The diagnosis is challenging, considering the rarity of the disease and its heterogeneous clinical presentation. Most patients have neonatal microcytic anemia, sometimes requiring in <italic>utero</italic> and/or neonatal transfusions, and typically improving with age.</p></sec><sec><title>Case Description</title><p>We report on an Italian newborn presenting with severe neonatal anemia that required red blood cell transfusion. After the first months of life, hemoglobin levels improved with residual very low mean corpuscular volume. β and α thalassemia, IRIDA syndrome, and sideroblastic anemia were excluded. Finally, a diagnosis of ε<italic>γδβ</italic> thalassemia was made after microarray analysis of single nucleotide polymorphisms revealed a 26 kb single copy loss of chromosome 11p15.4, including the <italic>HBD, HBBP1, HBG1, and HBB</italic> genes.</p></sec><sec><title>Conclusions</title><p>Despite its rarity, the diagnosis of ε<italic>γδβ</italic> thalassemia should be considered in newborns with severe neonatal anemia requiring in <italic>utero</italic> and/or neonatal transfusions, but also in older infants with microcytic anemia, after excluding more prevalent red blood cell disorders.</p></sec>