Literature DB >> 32032242

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.

Tugba Belgemen-Ozer1, Orhan Gorukmez2.   

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.

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Year:  2020        PMID: 32032242     DOI: 10.1097/MPH.0000000000001727

Source DB:  PubMed          Journal:  J Pediatr Hematol Oncol        ISSN: 1077-4114            Impact factor:   1.289


  3 in total

Review 1.  The congenital dyserythropoieitic anemias: genetics and pathophysiology.

Authors:  Richard King; Patrick J Gallagher; Rami Khoriaty
Journal:  Curr Opin Hematol       Date:  2021-12-24       Impact factor: 3.218

Review 2.  The Interplay between Drivers of Erythropoiesis and Iron Homeostasis in Rare Hereditary Anemias: Tipping the Balance.

Authors:  Simon Grootendorst; Jonathan de Wilde; Birgit van Dooijeweert; Annelies van Vuren; Wouter van Solinge; Roger Schutgens; Richard van Wijk; Marije Bartels
Journal:  Int J Mol Sci       Date:  2021-02-23       Impact factor: 5.923

3.  Compound Heterozygosity for KLF1 Mutations Causing Hemolytic Anemia in Children: A Case Report and Literature Review.

Authors:  Linlin Xu; Dina Zhu; Yanxia Zhang; Guanxia Liang; Min Liang; Xiaofeng Wei; Xiaoqing Feng; Xuedong Wu; Xuan Shang
Journal:  Front Genet       Date:  2021-06-25       Impact factor: 4.599

  3 in total

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