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Annals of Hematology

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01-01-2021 | Anemia | Letter to the Editor

Congenital dyserythropoietic anemia type IV with high fetal hemoglobin caused by heterozygous KLF1 p.Glu325Lys: first report in an Indian infant

Authors: Manu Jamwal, Anu Aggarwal, Prashant Sharma, Deepak Bansal, Reena Das

Published in: Annals of Hematology | Issue 1/2021

Excerpt

Dear Editor, …

Varricchio L, Planutis A, Manwani D, Jaffray J, Mitchell WB, Migliaccio AR, Bieker JJ (2019) Genetic disarray follows mutant KLF1-E325K expression in a congenital dyserythropoietic anemia patient. Haematologica 104:2372–2380. https://doi.org/10.3324/haematol.2018.209858CrossRef

Ravindranath Y, Johnson RM, Goyette G, Buck S, Gadgeel M, Gallagher PG (2018) KLF1 E325K-associated congenital dyserythropoietic anemia type IV. J Pediatr Hematol Oncol 40:e405–e409. https://doi.org/10.1097/MPH.0000000000001056CrossRef

Ortolano R, Forouhar M, Warwick A, Harper D (2018) A case of congenital dyserythropoeitic anemia type IV caused by E325K mutation in erythroid transcription factor KLF1. J Pediatr Hematol Oncol 40:e389–e391. https://doi.org/10.1097/MPH.0000000000001042CrossRef

Jamwal M, Sharma P, Das R (2020) Laboratory approach to hemolytic anemia. Indian J Pediatr 87:66–74. https://doi.org/10.1007/s12098-019-03119-8CrossRef

de- la- Iglesia- Iñigo S, Moreno-Carralero M-I, Lemes-Castellano A, Molero-Labarta T, Méndez M, Morán-Jiménez M-J (2017) A case of congenital dyserythropoietic anemia type IV. Clin Case Reports 5:248–252. https://doi.org/10.1002/ccr3.825

Jaffray JA, Mitchell WB, Gnanapragasam MN, Seshan SV, Guo X, Westhoff CM, Bieker JJ, Manwani D (2013) Erythroid transcription factor EKLF/KLF1 mutation causing congenital dyserythropoietic anemia type IV in a patient of Taiwanese origin: review of all reported cases and development of a clinical diagnostic paradigm. Blood Cells Mol Dis 51:71–75. https://doi.org/10.1016/j.bcmd.2013.02.006

Arnaud L, Saison C, Helias V, Lucien N, Steschenko D, Giarratana MC, Prehu C, Foliguet B, Montout L, de Brevern AG, Francina A, Ripoche P, Fenneteau O, da Costa L, Peyrard T, Coghlan G, Illum N, Birgens H, Tamary H, Iolascon A, Delaunay J, Tchernia G, Cartron JP (2010) A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia. Am J Hum Genet 87:721–727. https://doi.org/10.1016/j.ajhg.2010.10.010CrossRef

Mitchell WB, Gnanapragasam MN, Jaffray JA Bieker JJ, Manwani D (2011) Case report of erythroid transcription factor EKLF mutation causing a rare form of congenital dyserythropoetic anemia in a patient of Taiwanese origin. Blood 118:2154–2154. https://doi.org/10.1182/blood.V118.21.2154.2154

Title: Congenital dyserythropoietic anemia type IV with high fetal hemoglobin caused by heterozygous KLF1 p.Glu325Lys: first report in an Indian infant
Authors: Manu Jamwal
Anu Aggarwal
Prashant Sharma
Deepak Bansal
Reena Das
Publication date: 01-01-2021
Publisher: Springer Berlin Heidelberg
Keywords: Anemia
Hemolytic Anemia
Published in: Annals of Hematology / Issue 1/2021
Print ISSN: 0939-5555
Electronic ISSN: 1432-0584
DOI: https://doi.org/10.1007/s00277-020-03982-y

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