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Updated: Aug 19, 2025

A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy
Challenge and difficulty of diagnosing hemoglobinopathies in newborns: about a case
Pauline Condom1, Marie-Pierre Castex2, Frédérique Dubois1
1Laboratoire d’hématologie, CHU, Toulouse
Abstract:
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.
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