Case Report: Clinical and Hematological Characteristics of ε γδβ Thalassemia in an Italian Patient.

Autor:	Fotzi I; Department of Pediatric Hematology/Oncology and Hematopoietic Stem Cell Transplantation (HSCT), Meyer Children's University Hospital, Florence, Italy., Pegoraro F; Department of Pediatric Hematology/Oncology and Hematopoietic Stem Cell Transplantation (HSCT), Meyer Children's University Hospital, Florence, Italy.; Department of Health Science, University of Florence, Florence, Italy., Chiocca E; Department of Pediatric Hematology/Oncology and Hematopoietic Stem Cell Transplantation (HSCT), Meyer Children's University Hospital, Florence, Italy., Casini T; Department of Pediatric Hematology/Oncology and Hematopoietic Stem Cell Transplantation (HSCT), Meyer Children's University Hospital, Florence, Italy., Mogni M; Human Genetics Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Istituto Giannina Gaslini, Genoa, Italy., Veltroni M; Department of Pediatric Hematology/Oncology and Hematopoietic Stem Cell Transplantation (HSCT), Meyer Children's University Hospital, Florence, Italy., Favre C; Department of Pediatric Hematology/Oncology and Hematopoietic Stem Cell Transplantation (HSCT), Meyer Children's University Hospital, Florence, Italy.
Jazyk:	angličtina
Zdroj:	Frontiers in pediatrics [Front Pediatr] 2022 Mar 17; Vol. 10, pp. 839775. Date of Electronic Publication: 2022 Mar 17 (Print Publication: 2022).
DOI:	10.3389/fped.2022.839775
Abstrakt:	Introduction: ε γδβ 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 utero and/or neonatal transfusions, and typically improving with age. Case Description: 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 γδβ thalassemia was made after microarray analysis of single nucleotide polymorphisms revealed a 26 kb single copy loss of chromosome 11p15.4, including the HBD, HBBP1, HBG1, and HBB genes. Conclusions: Despite its rarity, the diagnosis of ε γδβ thalassemia should be considered in newborns with severe neonatal anemia requiring in utero and/or neonatal transfusions, but also in older infants with microcytic anemia, after excluding more prevalent red blood cell disorders. Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. (Copyright © 2022 Fotzi, Pegoraro, Chiocca, Casini, Mogni, Veltroni and Favre.)
Databáze:	MEDLINE
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