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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    #
1   Clinical Biochemistry Department, Virgen del Rocío University Hospital, Institute of Biomedicine of Seville (IBiS/CSIC), Seville, Spain
,
Salvador Payán-Pernía    #
2   Red Blood Cell Disorders Unit, Hematology Department, Virgen del Rocío University Hospital, Institute of Biomedicine of Seville (IBiS/CSIC), Seville, Spain
3   Medicine Department, Universitat Autònoma de Barcelona, Barcelona, Spain
,
Ana I. Álvarez-Ríos 
1   Clinical Biochemistry Department, Virgen del Rocío University Hospital, Institute of Biomedicine of Seville (IBiS/CSIC), Seville, Spain
,
Margarita Jiménez-Jambrina
2   Red 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
2   Red Blood Cell Disorders Unit, Hematology Department, Virgen del Rocío University Hospital, Institute of Biomedicine of Seville (IBiS/CSIC), Seville, Spain
,
Antonio José Palma-Vallellano
4   Hematology Department, Juan Ramón Jiménez University Hospital, Huelva, Spain
,
Rocío Zapata-Bautista
4   Hematology Department, Juan Ramón Jiménez University Hospital, Huelva, Spain
,
José Carlos Hernández-Castellet
5   Hematology, Immunology and Genetics Department, University Hospital Puerta del Mar, Cádiz, Spain
,
Mari Paz Garrastazul-Sánchez
5   Hematology, Immunology and Genetics Department, University Hospital Puerta del Mar, Cádiz, Spain
,
Víctor Arqueros-Martínez
6   Hematology Department, University Hospital Reina Sofía, Córdoba, Spain
,
María del Mar Urbano-Ramos
6   Hematology Department, University Hospital Reina Sofía, Córdoba, Spain
,
Mohamed Abdelkader-Maanan
7   Primary Care Medical Department, INGESA-Ceuta, Ceuta
,
José Raúl García-Lozano
8   Immunology Department, Virgen del Rocío University Hospital, Seville, Spain
,
Carmen Delgado-Pecellín 
1   Clinical Biochemistry Department, Virgen del Rocío University Hospital, Institute of Biomedicine of Seville (IBiS/CSIC), Seville, Spain
› Author Affiliations Funding None.
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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

# Contributed equally to this work.




Publication History

Received: 08 July 2022

Accepted: 24 October 2022

Article published online:
29 December 2022

© 2022. Thieme. All rights reserved.

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