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  • Title: Infantile Pyknocytosis in a Premature Dichorionic Diamniotic Twin.
    Author: Spoorenberg ME, Wachters-Hagedoorn RE, van Wijk R, de Kok JB.
    Journal: J Pediatr Hematol Oncol; 2021 Oct 01; 43(7):e1037-e1039. PubMed ID: 33235153.
    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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