Neonatal Screening for Sickle Cell Disease in Western Andalusia: Results and Lessons Learnt after 3 Years of Implementation

David Núñez-Jurado; Salvador Payán-Pernía; Ana I. Álvarez-Ríos; Margarita Jiménez-Jambrina; Inmaculada Concepcion Pérez-De-Soto; Antonio José Palma-Vallellano; Rocío Zapata-Bautista; José Carlos Hernández-Castellet; Mari Paz Garrastazul-Sánchez; Víctor Arqueros-Martínez; María del Mar Urbano-Ramos; Mohamed Abdelkader-Maanan; José Raúl García-Lozano; Carmen Delgado-Pecellín

doi:10.1055/s-0042-1759646

American Journal of Perinatology, Inhaltsverzeichnis

Am J Perinatol 2024; 41(S 01): e893-e900
DOI: 10.1055/s-0042-1759646

Original Article

Neonatal Screening for Sickle Cell Disease in Western Andalusia: Results and Lessons Learnt after 3 Years of Implementation

David Núñez-Jurado ^#

¹Clinical Biochemistry Department, Virgen del Rocío University Hospital, Institute of Biomedicine of Seville (IBiS/CSIC), Seville, Spain

,

Salvador Payán-Pernía ^#

²Red Blood Cell Disorders Unit, Hematology Department, Virgen del Rocío University Hospital, Institute of Biomedicine of Seville (IBiS/CSIC), Seville, Spain

³Medicine Department, Universitat Autònoma de Barcelona, Barcelona, Spain

,

Ana I. Álvarez-Ríos

¹Clinical Biochemistry Department, Virgen del Rocío University Hospital, Institute of Biomedicine of Seville (IBiS/CSIC), Seville, Spain

,

Margarita Jiménez-Jambrina

²Red Blood Cell Disorders Unit, Hematology Department, Virgen del Rocío University Hospital, Institute of Biomedicine of Seville (IBiS/CSIC), Seville, Spain

,

Inmaculada Concepcion Pérez-De-Soto

²Red Blood Cell Disorders Unit, Hematology Department, Virgen del Rocío University Hospital, Institute of Biomedicine of Seville (IBiS/CSIC), Seville, Spain

,

Antonio José Palma-Vallellano

⁴Hematology Department, Juan Ramón Jiménez University Hospital, Huelva, Spain

,

Rocío Zapata-Bautista

⁴Hematology Department, Juan Ramón Jiménez University Hospital, Huelva, Spain

,

José Carlos Hernández-Castellet

⁵Hematology, Immunology and Genetics Department, University Hospital Puerta del Mar, Cádiz, Spain

,

Mari Paz Garrastazul-Sánchez

⁵Hematology, Immunology and Genetics Department, University Hospital Puerta del Mar, Cádiz, Spain

,

Víctor Arqueros-Martínez

⁶Hematology Department, University Hospital Reina Sofía, Córdoba, Spain

,

María del Mar Urbano-Ramos

⁶Hematology Department, University Hospital Reina Sofía, Córdoba, Spain

,

Mohamed Abdelkader-Maanan

⁷Primary Care Medical Department, INGESA-Ceuta, Ceuta

,

José Raúl García-Lozano

⁸Immunology Department, Virgen del Rocío University Hospital, Seville, Spain

,

Carmen Delgado-Pecellín

¹Clinical Biochemistry Department, Virgen del Rocío University Hospital, Institute of Biomedicine of Seville (IBiS/CSIC), Seville, Spain

› Institutsangaben

Abstract

Objective The aim of this study was to present the results obtained in the Newborn Screening Program (NSP) for sickle cell disease (SCD) in western Andalusia and the autonomous city of Ceuta in the first 3 years of implementation, and to describe the discrepancies found in the diagnosis of hemoglobinopathies between the screening method and the confirmatory tests.

Study Design A descriptive and retrospective study was carried out, and the findings obtained in the newborns included in the NSP between November 2018 and December 2021 were analyzed.

Results A total of 111,205 samples were screened by high-performance liquid chromatography (HPLC). The birth prevalence of SCD, sickle cell trait, hemoglobin C carriers, and the compound heterozygosity Hb C/β-thalassemia was 1/12,356, 1/467, 1/1,278, and 1/55,602 newborns, respectively. Although there was a correlation between the first-line HPLC screening technique (VARIANTnbs HPLC analyzer, Bio-Rad) and the confirmatory tests in most cases, major discrepancies were found in detecting carriers of G-Philadelphia, D, E, and O-Arab hemoglobin variants, with the former having an incidence of 1/10,110 and the others 1/22,241. The carrier status of Hb G-Philadelphia produced an FAD pattern on the screening method that could be mistaken as Hb D, while Hb O-Arab was identified as an FA5 pattern. Hb D was initially recognized as Hb D in two cases.

Conclusion An NSP requires at least two different combined methods in order to identify the hemoglobin variant with sufficient certainty. Furthermore, even though software solutions for HPLC suggest a pattern, it must be confirmed with another technique to obtain a correct interpretation of the chromatograms.

Key Points

The NSPs are an essential activity in preventive medicine.
At least two different combined methods are required to correctly identify hemoglobin variants.
Different variants can produce a similar or identical pattern by a single method.

Keywords

sickle cell disease - neonatal screening - hemoglobin variants - confirmatory methods - hemoglobinopathies

Volltext

Referenzen

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