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Case Reports
. 2021 Oct 1;43(7):e1037-e1039.
doi: 10.1097/MPH.0000000000002004.

Infantile Pyknocytosis in a Premature Dichorionic Diamniotic Twin

Mandy E Spoorenberg  1 , Renate E Wachters-Hagedoorn  1 , Richard van Wijk  2 , Jacques B de Kok  3
Affiliations
Case Reports

Infantile Pyknocytosis in a Premature Dichorionic Diamniotic Twin

Mandy E Spoorenberg et al. J Pediatr Hematol Oncol. .

Abstract

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. We present a case of a premature twin, in whom genetic screening was performed. Genetic mutations in 46 genes associated with hereditary hemolytic anemia and dyserythropoietic anemia were tested. No mutations were found. In infantile pyknocytosis, a genetic defect in these genes is unlikely.

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Conflict of interest statement

The authors declare no conflict of interest.

References

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