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

1
Department of Clinical Sciences and Community Health, Università degli Studi di Milano, 20122 Milan, Italy
2
Neonatal Intensive Care Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy
3
UO Ematologia, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy
4
Department of Oncology and Hemato-Oncology, University of Milan, 20122 Milan, Italy
5
Neonatal Intensive Care Unit, Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Italy
*
Author to whom correspondence should be addressed.
Co-first authorship.
Academic Editor: Eric Deconinck
Diagnostics 2021, 11(9), 1549; https://doi.org/10.3390/diagnostics11091549
Received: 9 August 2021 / Revised: 22 August 2021 / Accepted: 24 August 2021 / Published: 26 August 2021
(This article belongs to the Section Pathology and Molecular Diagnostics)
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). View Full-Text
Keywords: congenital hemolytic anemias; glucose-6-phosphate deficiency; pyruvate kinase deficiency; hereditary spherocytosis; congenital dyserythropoietic anemias; neonatal anemia; jaundice congenital hemolytic anemias; glucose-6-phosphate deficiency; pyruvate kinase deficiency; hereditary spherocytosis; congenital dyserythropoietic anemias; neonatal anemia; jaundice
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MDPI and ACS Style

Cortesi, V.; Manzoni, F.; Raffaeli, G.; Cavallaro, G.; Fattizzo, B.; Amelio, G.S.; Gulden, S.; Amodeo, I.; Giannotta, J.A.; Mosca, F.; Ghirardello, S. Severe Presentation of Congenital Hemolytic Anemias in the Neonatal Age: Diagnostic and Therapeutic Issues. Diagnostics 2021, 11, 1549. https://doi.org/10.3390/diagnostics11091549

AMA Style

Cortesi V, Manzoni F, Raffaeli G, Cavallaro G, Fattizzo B, Amelio GS, Gulden S, Amodeo I, Giannotta JA, Mosca F, Ghirardello S. Severe Presentation of Congenital Hemolytic Anemias in the Neonatal Age: Diagnostic and Therapeutic Issues. Diagnostics. 2021; 11(9):1549. https://doi.org/10.3390/diagnostics11091549

Chicago/Turabian Style

Cortesi, Valeria, Francesca Manzoni, Genny Raffaeli, Giacomo Cavallaro, Bruno Fattizzo, Giacomo S. Amelio, Silvia Gulden, Ilaria Amodeo, Juri A. Giannotta, Fabio Mosca, and Stefano Ghirardello. 2021. "Severe Presentation of Congenital Hemolytic Anemias in the Neonatal Age: Diagnostic and Therapeutic Issues" Diagnostics 11, no. 9: 1549. https://doi.org/10.3390/diagnostics11091549

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