Next generation sequencing for diagnosis of hereditary anemia: Experience in a Spanish reference center.

doi:10.1016/j.cca.2022.03.024

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Article

Next generation sequencing for diagnosis of hereditary anemia: Experience in a Spanish reference center.

Clinica chimica acta; international journal of clinical chemistry - 1 Jun 2022

Nieto Jorge M, Rochas-López Sara, González-Fernández Fernando A, Villegas-Martínez Ana, Bolaños-Calderón Estefanía, Salido-Fiérrez Eduardo, Cela Elena, Huerta-Aragoneses Jorge, Ordoñez-García María, Muruzábal-Sitges María J, Abio-Calvete Mariola, Sevilla Navarro Julián, de la Iglesia Silvia, Morado Marta, San Román-Pacheco Sonsoles, Martín-Mateos María L, Recasens-Flores María V, Benavente-Cuesta Celina, Ropero-Gradilla Paloma, Members Of The Erithropatology Working Group

Abstract excerpt

BACKGROUND AND AIMS: Hereditary anemia (HA) encloses a wide group of rare inherited disorders with clinical and hematologic overlaps that complicate diagnosis. MATERIALS AND METHODS: A 48-gene panel was developed to diagnose HA by Next Generation Sequencing (NGS) in a large cohort of 165 patients from 160 unrelated families. RESULTS: Patients were divided in: A) patients who had a suspicion of a specific type of...

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PMID: 35351432
DOI: 10.1016/j.cca.2022.03.024

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