Appropriate thresholds for accurate screening for β-thalassemias in the newborn period: results from a French center for newborn screening.

Autor:	Allaf B; AP-HP (Assistance Publique-Hôpitaux de Paris), Robert-Debré Hospital, Newborn Screening Laboratory for Hemoglobinopathies, Paris, France., Pondarre C; Department of General Pediatrics, Reference Center for Sickle Cell Disease, Hospital of Creteil, Créteil, France.; INSERM Unité 955, Paris XII University, Créteil, France., Allali S; AP-HP, Department of General Pediatrics and Pediatric Infectious Diseases, Reference Center for Sickle Cell Disease, Necker Hospital for Sick Children, Paris Descartes University, Paris, France.; Laboratory of Cellular and Molecular Mechanisms of Hematological Disorders and Therapeutical Implications, Paris Descartes - Sorbonne Paris Cite University, Imagine Institute, Inserm U1163, Paris, France.; Laboratory of Excellence GR-Ex, Paris, France., De Montalembert M; AP-HP, Department of General Pediatrics and Pediatric Infectious Diseases, Reference Center for Sickle Cell Disease, Necker Hospital for Sick Children, Paris Descartes University, Paris, France.; Laboratory of Cellular and Molecular Mechanisms of Hematological Disorders and Therapeutical Implications, Paris Descartes - Sorbonne Paris Cite University, Imagine Institute, Inserm U1163, Paris, France.; Laboratory of Excellence GR-Ex, Paris, France., Arnaud C; Department of General Pediatrics, Reference Center for Sickle Cell Disease, Hospital of Creteil, Créteil, France., Barrey C; Department of Pediatrics, Saint Camille Hospital, Bry-sur-Marne, France., Benkerrou M; Department of Child Hematology, Reference Center for Sickle Cell Disease Robert-Debré University Hospital, APHP, Paris, 75019,France., Benhaim P; AP-HP, Department of Pediatrics, Jean Verdier Hospital, Bondy, France., Bensaid P; Department of Pediatrics, Victor Dupouy Hospital, Argenteuil, France., Brousse V; AP-HP, Department of General Pediatrics and Pediatric Infectious Diseases, Reference Center for Sickle Cell Disease, Necker Hospital for Sick Children, Paris Descartes University, Paris, France.; Laboratory of Cellular and Molecular Mechanisms of Hematological Disorders and Therapeutical Implications, Paris Descartes - Sorbonne Paris Cite University, Imagine Institute, Inserm U1163, Paris, France.; Laboratory of Excellence GR-Ex, Paris, France., Dollfus C; APHP, Department of Pediatric Hematology-Oncology Armand Trousseau Hospital, Sorbonne University Paris, Paris, France., Eyssette-Guerreau S; Department of Pediatrics, René-Dubos Hospital, Pontoise, France., Galacteros F; AP-HP, Sickle Cell Referral Center, Internal Medicine Unit, IMRB Team 2, UPEC, Labex GRex, Henri Mondor Hospital, Créteil, France., Gajdos V; AP-HP Department of Pediatrics, Antoine Béclère University Hospital, Clamart, France.; Centre for Research in Epidemiology and Population Health, Villejuif, France.; Saclay University, Paris, France., Garrec N; Department of Pediatrics, Marne-la-Vallée Hospital, Jossigny, France., Guillaumat C; Department of Pediatrics, Sud Francilien Hospital, 91100,Corbeil-Essonne, France., Guitton C; AP-HP, Pediatrics Department, Reference Center for Sickle Cell Disease, Bicêtre Hospital, Le Kremlin Bicêtre, France., Monfort-Gouraud M; Department of Pediatrics, Meaux Hospital, Meaux, France., Gouraud F; Department of Pediatrics, Meaux Hospital, Meaux, France., Holvoet L; Department of Child Hematology, Reference Center for Sickle Cell Disease Robert-Debré University Hospital, APHP, Paris, 75019,France., Ithier G; Department of Child Hematology, Reference Center for Sickle Cell Disease Robert-Debré University Hospital, APHP, Paris, 75019,France., Kamdem A; Department of General Pediatrics, Reference Center for Sickle Cell Disease, Hospital of Creteil, Créteil, France., Koehl B; Department of Child Hematology, Reference Center for Sickle Cell Disease Robert-Debré University Hospital, APHP, Paris, 75019,France., Malric A; Department of Pediatrics, Saint-Denis Hospital, Saint-Denis, France., Missud F; Department of Child Hematology, Reference Center for Sickle Cell Disease Robert-Debré University Hospital, APHP, Paris, 75019,France., Monier B; Department of Pediatrics, Simone Veil Hospital, Montmorency, France., Odièvre MH; AP-HP, Department of General Pediatrics and Pediatric Infectious Diseases, Center for Sickle Cell Disease, Armand Trousseau Hospital, Sorbonne Université, Paris, France., Joly P; Laboratoire Interuniversitaire de Biologie de la Motricité (LIBM) EA7424, Equipe 'Biologie vasculaire et du globule rouge', Université Claude Bernard Lyon 1, COMUE Lyon, Villeurbanne, France.; Laboratoire d'Excellence du Globule Rouge (Labex GR-Ex), PRES Sorbonne, Paris, France.; UF Biochimie des pathologies érythrocytaires, Laboratoire de Biochimie et Biologie moléculaire Grand-Est, Groupement hospitalier Est, Hospices Civils de Lyon, Bron, France., Renoux C; Laboratoire Interuniversitaire de Biologie de la Motricité (LIBM) EA7424, Equipe 'Biologie vasculaire et du globule rouge', Université Claude Bernard Lyon 1, COMUE Lyon, Villeurbanne, France.; Laboratoire d'Excellence du Globule Rouge (Labex GR-Ex), PRES Sorbonne, Paris, France.; UF Biochimie des pathologies érythrocytaires, Laboratoire de Biochimie et Biologie moléculaire Grand-Est, Groupement hospitalier Est, Hospices Civils de Lyon, Bron, France., Patin F; AP-HP (Assistance Publique-Hôpitaux de Paris), Robert-Debré Hospital, Newborn Screening Laboratory for Hemoglobinopathies, Paris, France., Pissard S; Laboratory of Excellence GR-Ex, Paris, France.; Institut National de la Sante et de la Recherche Médicale (INSERM) U 955 eq 2, Institut Mondor de Recherche Biomoléculaire (IMRB), Paris, France.; APHP, Molecular Genetics Department, Henri Mondor Hospital, Créteil, France., Couque N; AP-HP, Robert-Debré, Molecular Genetics Department, Paris, France.
Jazyk:	angličtina
Zdroj:	Clinical chemistry and laboratory medicine [Clin Chem Lab Med] 2020 Aug 19; Vol. 59 (1), pp. 209-216. Date of Electronic Publication: 2020 Aug 19.
DOI:	10.1515/cclm-2020-0803
Abstrakt:	Objectives: Newborn screening (NBS) for β-thalassemia is based on measuring the expression of the hemoglobin A (HbA) fraction. An absence or very low level of HbA at birth may indicate β-thalassemia. The difficulty is that the HbA fraction at birth is correlated with gestational age (GA) and highly variable between individuals. We used HbA expressed in multiples of the normal (MoM) to evaluate relevant thresholds for NBS of β-thalassemia. Methods: The chosen threshold (HbA≤0.25 MoM) was prospectively applied for 32 months in our regional NBS program for sickle cell disease, for all tests performed, to identify patients at risk of β-thalassemia. Reliability of this threshold was evaluated at the end of the study. Results: In all, 343,036 newborns were tested, and 84 suspected cases of β-thalassemia were detected by applying the threshold of HbA≤0.25 MoM. Among the n=64 cases with confirmatory tests, 14 were confirmed using molecular analysis as β-thalassemia diseases, 37 were confirmed as β-thalassemia trait and 13 were false-positive. Determination of the optimum threshold for β-thalassemia screening showed that HbA≤0.16 MoM had a sensitivity of 100% and a specificity of 95.3%, whatever the GA. Conclusions: NBS for β-thalassemia diseases is effective, regardless of the birth term, using the single robust threshold of HbA≤0.16 MoM. A higher threshold would also allow screening for carriers, which could be interesting when β-thalassemia constitutes a public health problem.
Databáze:	MEDLINE
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