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).

Severe presentation of congenital hemolytic anemias in the neonatal age : diagnostic and therapeutic issues / V. Cortesi, F. Manzoni, G. Raffaeli, G. Cavallaro, B. Fattizzo, G. Simeone Amelio, S. Gulden, I. Amodeo, J. Alessandro Giannotta, F. Mosca, S. Ghirardello. - In: DIAGNOSTICS. - ISSN 2075-4418. - 11:9(2021 Aug 26), pp. 1549.1-1549.15. [10.3390/diagnostics11091549]

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

Genny Raffaeli;Bruno Fattizzo;Fabio Mosca;
2021-08-26

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).
congenital hemolytic anemias; glucose-6-phosphate deficiency; pyruvate kinase deficiency; hereditary spherocytosis; congenital dyserythropoietic anemias; neonatal anemia; jaundice
Settore MED/38 - Pediatria Generale e Specialistica
DIAGNOSTICS
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/863828
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