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-Reference-Cited by-同舟云学术

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

Published:2020-02-06 Issue:6 Volume:42 Page:e536-e540
ISSN:1077-4114
Container-title:Journal of Pediatric Hematology/Oncology
language:en
Short-container-title:

Author:

Belgemen-Ozer Tugba,Gorukmez Orhan

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Oncology,Hematology,Pediatrics, Perinatology, and Child Health

Reference21 articles.

1. Congenital dyserythropoietic anemias: molecular insights and diagnostic approach;Iolascon;Blood,2013

2. A case of congenital dyserythropoietic anemia type IV;de-la-Iglesia-Iñigo;Clin Case Rep,2017

3. Diagnosis and management of congenital dyserythropoietic anemias;Gambale;Expert Rev Hematol,2016

4. Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome);Ferguson;J Med Genet,2005

5. Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 gene;Shteyer;Am J Hum Genet,2009

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1. Erythroid Krüppel-Like Factor (KLF1): A Surprisingly Versatile Regulator of Erythroid Differentiation;Advances in Experimental Medicine and Biology;2024

2. Molecular and haematological characterisation of haemolytic anaemia associated with biallelic KLF1 mutations: a case series;Journal of Clinical Pathology;2023-07-28

3. Hematopoietic cell transplantation for congenital dyserythropoietic anemia IV caused by compound heterozygous KLF1 mutations;Annals of Hematology;2023-03-31

4. Identification and Functional Analysis of Known and New Mutations in the Transcription Factor KLF1 Linked with β-Thalassemia-like Phenotypes;Biology;2023-03-28

5. Congenital dyserythropoietic anemia type IV in the genetic era: A rare neonatal case report of rapid identification with a review of the literature;Pediatric Blood & Cancer;2023-02-16