Srinath Meghna, Coberly Emily, Ebersol Kimberly, Binz Kirstin, Laziuk Katsiaryna, Gunning William T, Gruner Barbara, Hammer Richard, Sathi Bindu Kanathezhath
a University of Missouri School of Medicine , Columbia , Missouri , USA.
b Department of Pathology and Anatomical Sciences, University of Missouri School of Medicine , Columbia , Missouri , USA.
Pediatr Hematol Oncol. 2019 May;36(4):236-243. doi: 10.1080/08880018.2019.1621969. Epub 2019 Jul 30.
Here we report a case of refractory macrocytic anemia with a spliceosomal point mutation involving the gene in a child with Down syndrome (DS). Such mutations have been shown to cause refractory macrocytic anemia and myelodysplastic syndrome (MDS) in elderly individuals. We report the hematological indices of a child with DS and a spliceosomal mutation. DS is known to produce macrocytic anemia but does not lead to transfusion dependence. In this case, the mutation was the likely implicating factor for severe transfusion-dependent anemia in a child with DS. The clinical implication of a mutation in a child with DS has not been previously described and warrants close surveillance to detect potential insidious transformation to MDS.
在此，我们报告一例患有唐氏综合征（DS）的儿童发生难治性大细胞贫血，其剪接体存在点突变，涉及该基因。此类突变已被证明可导致老年个体出现难治性大细胞贫血和骨髓增生异常综合征（MDS）。我们报告了一名患有DS且存在剪接体突变的儿童的血液学指标。已知DS会导致大细胞贫血，但不会导致输血依赖。在本病例中，该突变可能是导致一名患有DS的儿童出现严重输血依赖型贫血的因素。DS患儿中该突变的临床意义此前尚未见报道，需要密切监测以检测向MDS的潜在隐匿性转变。
