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. 2022 Sep 1;80(5):455-459.
doi: 10.1684/abc.2022.1746.

[Challenge and difficulty of diagnosing hemoglobinopathies in newborns: about a case]

[Article in French]
Pauline Condom  1 , Marie-Pierre Castex  2 , Frédérique Dubois  1
Affiliations
Free article

[Challenge and difficulty of diagnosing hemoglobinopathies in newborns: about a case]

[Article in French]
Pauline Condom et al. Ann Biol Clin (Paris). .
Free article

Abstract
in English, French

The diagnosis of hemoglobinopathy is based on a range of arguments: clinic, results of a blood count, the haemoglobin study and possibly a genetic study of the globin chains. The interpretation of these profiles can be complicated, especially in newborns due to the ontogenesis of globin genes. The clinical impact can range from simple microcytosis without anemia to severe anemia requiring iterative transfusions and various clinical symptoms depending on the number and type of chains produced. Knowledge of a hemoglobin pathology remains essential because of the possible transmission and combination of these anomalies to offspring.

Le diagnostic d’une hémoglobinopathie repose sur un faisceau d’arguments : la clinique, les résultats d’une numération formule sanguine, l’étude de l’hémoglobine et éventuellement une étude génétique des chaînes de globines. L’interprétation de ces profils obtenus peut être compliquée, en particulier chez le nouveau-né du fait de l’ontogénèse des gènes de globines. Le retentissement clinique peut aller de la simple microcytose sans anémie à une anémie sévère nécessitant des transfusions itératives et divers symptômes cliniques selon le nombre et le type de chaînes produites. La connaissance d’une pathologie de l’hémoglobine reste néanmoins essentielle du fait de la transmission et de la combinaison possible des anomalies à la descendance.

Keywords: hemoglobinopathy; hemoglobin electrophoresis; newborn; microcytic anemia; polycythemia; red blood cell indices.

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