Severe presentation of congenital hemolytic anemias in the neonatal age: Diagnostic and therapeutic issues

Valeria Cortesi, Francesca Manzoni, Genny Raffaeli, Giacomo Cavallaro, Bruno Fattizzo, Giacomo Simeone Amelio, Silvia Gulden, Ilaria Amodeo, Juri Alessandro Giannotta, Fabio Mosca, Stefano Ghirardello

Research output: Contribution to journalReview articlepeer-review

Abstract

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).

Original languageEnglish
Article number1549
JournalDiagnostics
Volume11
Issue number9
DOIs
Publication statusPublished - Sep 2021

Keywords

  • Congenital dyserythropoietic anemias
  • Congenital hemolytic anemias
  • Glucose-6-phosphate deficiency
  • Hereditary spherocytosis
  • Jaundice
  • Neonatal anemia
  • Pyruvate kinase deficiency

ASJC Scopus subject areas

  • Clinical Biochemistry

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