European Journal of Haematology
Fecha de publicación: 10 January 2018
Autores:Marcia Anahí Hasenahuer, Gustavo Parisi, Héctor M. Targovnik, Ernesto Samuel Veber, Renée Crisp, Graciela Elena, Viviana Varela,
Background: Hemoglobinopathies are the most common autosomal recessive disorders and are mostly inherited in a recessive manner. However, certain mutations can affect the globin chain stability, leading to dominant forms of thalassemia. The aim of this work was the molecular and structural characterization of two heterozygous in‐frame deletions, leading to β‐globin variants in pediatric patients in Argentina.