Pyknocytosis, a rare form of neonatal haemolytic anaemia.

An Pediatr (Engl Ed)

Unidad de Cuidados Especiales Neonatales, Servicio de Pediatría, Hospital de Braga EPE, Braga, Portugal.

Published: December 2023

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http://dx.doi.org/10.1016/j.anpede.2023.11.003DOI Listing

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Infantile pyknocytosis (IP) is a rare, probably misestimated, cause of non-immune neonatal hemolytic anemia evolving in two phases: an initial phase with severe jaundice, followed by a second phase with hemolytic anemia, which may require neonatal intensive care. The diagnosis of IP is based on the transient presence on blood smear of hyperdense, contracted, and/or spiculated red blood cells (pyknocytes), associated with the spontaneous resolution of clinico-biological features and the exclusion of other causes. If the etiology remains undetermined, some contributing factors, such as oxidative stress, have been proposed.

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Pyknocytosis, a rare form of neonatal haemolytic anaemia.

An Pediatr (Engl Ed)

December 2023

Unidad de Cuidados Especiales Neonatales, Servicio de Pediatría, Hospital de Braga EPE, Braga, Portugal.

View Article and Find Full Text PDF

Infantile pyknocytosis is a rare, self-limited, hemolytic condition of unknown pathogenesis. It is diagnosed when a neonate with Coombs-negative hemolytic anemia has abundant pyknocytes and a characteristic clinical course after other hemolytic disorders has been excluded. Previous reports suggest that transfusions might be avoidable in this condition by administering recombinant erythropoietin.

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Infantile pyknocytosis is a rare and self-limiting cause of hemolytic anemia in neonates. It can result in severe anemia and hyperbilirubinemia. The pathogenesis is unknown: a genetic origin has been discussed; however, based on the current literature it is not clear which genetic mutations should be considered.

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Infantile pyknocytosis is a rare cause of neonatal hemolytic anemia, which presents in the first few weeks of life. We report a classic case of infantile pyknocytosis that presented to our institution with rebound hyperbilirubinemia after receiving phototherapy. The infant was found to have a hemoglobin of 5.

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