Severe Presentation of Congenital Hemolytic Anemias in the Neonatal Age: Diagnostic and Therapeutic Issues

• Main Authors: Valeria Cortesi, Francesca Manzoni, Genny Raffaeli, Giacomo Cavallaro, Bruno Fattizzo, Giacomo Simeone Amelio, Silvia Gulden, Ilaria Amodeo, Juri Alessandro Giannotta, Fabio Mosca, Stefano Ghirardello
• Format: Article
• Language: English
• Published: MDPI AG 2021-08-01
• Series: Diagnostics
• Subjects: congenital hemolytic anemias; glucose-6-phosphate deficiency; pyruvate kinase deficiency; hereditary spherocytosis; congenital dyserythropoietic anemias; neonatal anemia
• Online Access: https://www.mdpi.com/2075-4418/11/9/1549

Congenital hemolytic anemias (CHAs) are a group of diseases characterized by premature destruction of erythrocytes as a consequence of intrinsic red blood cells abnormalities. Suggestive features of CHAs are anemia and hemolysis, with high reticulocyte count, unconjugated hyperbilirubinemia, increased lactate dehydrogenase (LDH), and reduced haptoglobin. The peripheral blood smear can help the differential diagnosis. In this review, we discuss the clinical management of severe CHAs presenting early on in the neonatal period. Appropriate knowledge and a high index of suspicion are crucial for a timely differential diagnosis and management. Here, we provide an overview of the most common conditions, such as glucose-6-phosphate dehydrogenase deficiency, pyruvate kinase deficiency, and hereditary spherocytosis. Although rare, congenital dyserythropoietic anemias are included as they may be suspected in early life, while hemoglobinopathies will not be discussed, as they usually manifest at a later age, when fetal hemoglobin (HbF) is replaced by the adult form (HbA).