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Two novel unstable hemoglobin variants due to in‐frame deletions of key amino acids in the β‐globin chain

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Two novel unstable hemoglobin variants due to in‐frame deletions of key amino acids in the β‐globin chain

European Journal of Haematology

Fecha de publicación: 10 January 2018

DOI: https://doi.org/10.1111/ejh.13029

Autores: Karen G. Scheps, Marcia Anahí Hasenahuer, Gustavo Parisi, Héctor M. Targovnik, Eliana García, Ernesto Samuel Veber, Renée Crisp, Graciela Elena, Viviana Varela, María Silvina Fornasari

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. 

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