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一例携带KLF1基因新突变的患者发生的极罕见先天性红细胞生成异常性贫血IV型:病例报告及文献复习

A Very Rare Congenital Dyserythropoietic Anemia Variant-Type IV in a Patient With a Novel Mutation in the KLF1 Gene: A Case Report and Review of the Literature.

作者信息

Belgemen-Ozer Tugba, Gorukmez Orhan

机构信息

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.

出版信息

J Pediatr Hematol Oncol. 2020 Aug;42(6):e536-e540. doi: 10.1097/MPH.0000000000001727.

Abstract

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.

摘要

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。

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