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

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

扫码查看
原文链接
  • NSTL
  • Elsevier
? 2022 Elsevier B.V.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 HA (n = 109), and B) patients who had a suspicion of HA but with no clear type (n = 56). Diagnostic performance was 83.5% in group A and a change of the initial diagnosis occurred in 11% of these patients. In group B, 35.7% of patients achieved a genetic diagnosis. NGS identified 6 cases of xerocytosis, 6 of pyruvate kinase (PK) deficiency, 4 of G6PD, and 1 case of phytosterolemia with no initial suspicion of these pathologies, which is clinically relevant since they have specific treatment. Five patients were found to carry variants associated to two different pathologies (4 of them combining a metabolic deficiency and a membrane defect), and 44 new variants were identified in 41 patients. Conclusion: The use of NGS is a sensitive technique to diagnose HA and it shows better performance when patients are better characterized.

Congenital anemiaDifferential diagnosisErythrocyteHereditary anemiaNext Generation SequencingNGS

Nieto J.M.、Rochas-Lopez S.、Gonzalez-Fernandez F.A.、Villegas-Martinez A.、Bolanos-Calderon E.、Salido-Fierrez E.、Cela E.、Huerta-Aragoneses J.、Ordonez-Garcia M.、Muruzabal-Sitges M.J.、Abio-Calvete M.、Sevilla Navarro J.、de la Iglesia S.、Morado M.、San Roman-Pacheco S.、Martin-Mateos M.L.、Recasens-Flores M.V.、Benavente-Cuesta C.、Ropero-Gradilla P.、Members of the erithropatology working group

展开 >

Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC)

Hospital San Carlos

Hospital Clínico Universitario Virgen de la Arrixaca

Hospital Materno-Infantil Gregorio Mara?ón

Hospital Universitario de Móstoles

Hospital Universitario Marqués de Valdecilla

Hospital Virgen de la Salud

Hospital Infantil Universitario Ni?o Jesús

Hospital Universitario de Gran Canaria Doctor Negrín

Hospital Universitario La Paz

Hospital Clínico Universitario de Salamanca

Hospital Universitario Miguel Servet

展开 >

2022

10.1016/j.cca.2022.03.024

Clinica chimica acta

Clinica chimica acta

ISTP
ISSN：0009-8981
年,卷(期)：2022.531
  • 1
  • 51