Spoorenberg Mandy E, Wachters-Hagedoorn Renate E, van Wijk Richard, de Kok Jacques B
Departments of Pediatrics.
Central Diagnostic Laboratory-Research, University Medical Center Utrecht, Utrecht, The Netherlands.
J Pediatr Hematol Oncol. 2021 Oct 1;43(7):e1037-e1039. doi: 10.1097/MPH.0000000000002004.
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.
婴儿固缩红细胞增多症是新生儿溶血性贫血的一种罕见且自限性病因。它可导致严重贫血和高胆红素血症。其发病机制尚不清楚：曾讨论过遗传起源；然而，根据目前的文献，尚不清楚应考虑哪些基因突变。我们报告一例早产双胞胎病例，并对其进行了基因筛查。检测了与遗传性溶血性贫血和红细胞生成异常性贫血相关的46个基因的基因突变。未发现突变。在婴儿固缩红细胞增多症中，这些基因发生遗传缺陷的可能性不大。
