Belgemen-Ozer Tugba, Gorukmez Orhan
Department of Pediatric Hematology-Oncology, Istanbul Medeniyet University Goztepe Training and Research Hospital, Istanbul.
Department of Genetics, University of Health Sciences Bursa Yuksek Ihtisas Training and Research Hospital, Bursa, Turkey.
J Pediatr Hematol Oncol. 2020 Aug;42(6):e536-e540. doi: 10.1097/MPH.0000000000001727.
Congenital dyserythropoietic anemias comprise a group of very rare hereditary disorders characterized by ineffective erythropoiesis and distinct morphologic abnormalities of the erythroblasts in the bone marrow. The wide variety of phenotypes observed in these patients makes the diagnosis difficult; identification of the genetic variants is crucial in differential diagnosis and clinical management. We report the nineth case with congenital dyserythropoietic anemia type IV, with a novel mutation that has not been reported before.
先天性红细胞生成异常性贫血是一组非常罕见的遗传性疾病,其特征为红细胞生成无效以及骨髓中幼红细胞存在明显的形态学异常。这些患者中观察到的多种表型使得诊断困难;鉴定基因变异对于鉴别诊断和临床管理至关重要。我们报告了第9例IV型先天性红细胞生成异常性贫血病例,其携带一个此前未报道过的新突变。