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Hematopoietic cell transplantation for congenital dyserythropoietic anemia IV caused by compound heterozygous KLF1 mutations

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Fig. 1

Data availability

All data related to this study can be obtained on request, while all the analysed data were included in this published article.

References

  1. Siatecka M, Bieker JJ (2011) The multifunctional role of EKLF/KLF1 during erythropoiesis. Blood 118:2044–2054. https://doi.org/10.1182/blood-2011-03-331371

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  2. Perkins A, Xu X, Higgs DR, Patrinos GP, Arnaud L, Bieker JJ, Philipsen S (2016) Krüppeling erythropoiesis: an unexpected broad spectrum of human red blood cell disorders due to KLF1 variants. Blood 127:1856–1862. https://doi.org/10.1182/blood-2016-01-694331

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  3. Xu L, Zhu D, Zhang Y, Liang G, Liang M, Wei X, Feng X, Wu X, Shang X (2021) Compound heterozygosity for KLF1 mutations causing hemolytic anemia in children: a case report and literature review. Front Genet 12:691461. https://doi.org/10.3389/fgene.2021.691461

    Article  PubMed  PubMed Central  Google Scholar 

  4. Viprakasit V, Ekwattanakit S, Riolueang S, Chalaow N, Fisher C, Lower K, Kanno H, Tachavanich K, Bejrachandra S, Saipin J, Juntharaniyom M, Sanpakit K, Tanphaichitr VS, Songdej D, Babbs C, Gibbons RJ, Philipsen S, Higgs DR (2014) Mutations in Kruppel-like factor 1 cause transfusion-dependent hemolytic anemia and persistence of embryonic globin gene expression. Blood 123:1586–1595. https://doi.org/10.1182/blood-2013-09-526087

    Article  CAS  PubMed  Google Scholar 

  5. Belgemen-Ozer T, Gorukmez O (2020) 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. J Pediatr Hematol Oncol 42:e536–e540. https://doi.org/10.1097/MPH.0000000000001727

    Article  PubMed  Google Scholar 

  6. Huang J, Zhang X, Liu D, Wei X, Shang X, Xiong F, Yu L, Yin X, Xu X (2015) Compound heterozygosity for KLF1 mutations is associated with microcytic hypochromic anemia and increased fetal hemoglobin. Eur J Hum Genet 23:1341–1348. https://doi.org/10.1038/ejhg.2014.291

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  7. Jiang H, Jiang F, Li J, Tang F, Li DZ (2019) Congenital nonspherocytic hemolytic anemia caused by Krüppel-like factor 1 gene variants: another case report. Hemoglobin 43:292–295. https://doi.org/10.1080/03630269.2019.1680384

    Article  CAS  PubMed  Google Scholar 

  8. Lee HH, Mak AS, Kou KO, Poon CF, Wong WS, Chiu KH, Au PK, Chan KY, Kan AS, Tang MH, Leung KY (2016) An unusual hydrops fetalis associated with compound heterozygosity for Krüppel-like factor 1 mutations. Hemoglobin 40:431–434. https://doi.org/10.1080/03630269.2016.1267017

    Article  CAS  PubMed  Google Scholar 

  9. Magor GW, Tallack MR, Gillinder KR, Bell CC, McCallum N, Williams B, Perkins AC (2015) KLF1-null neonates display hydrops fetalis and a deranged erythroid transcriptome. Blood 125:2405–2417. https://doi.org/10.1182/blood-2014-08-590968

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  10. Rani N, Jamwal M, Kaur J, Sharma P, Malhotra P, Maitra A, Singh R, Das R (2018) Homozygous KLF1 mutation c.901C>T (p.Arg301Cys) resulting in mild thalassemia intermedia in an Indian: a next-generation sequencing diagnosis. Blood Cells Mol Dis 72:19–21. https://doi.org/10.1016/j.bcmd.2018.06.003

    Article  CAS  PubMed  Google Scholar 

  11. Tangsricharoen T, Natesirinilkul R, Phusua A, Fanhchaksai K, Ittiwut C, Chetruengchai W, Juntharaniyom M, Charoenkwan P, Viprakasit V, Phokaew C, Shotelersuk V (2021) Severe neonatal haemolytic anaemia caused by compound heterozygous KLF1 mutations: report of four families and literature review. Br J Haematol 194:626–634. https://doi.org/10.1111/bjh.17616

    Article  CAS  PubMed  Google Scholar 

  12. Iolascon A, Heimpel H, Wahlin A, Tamary H (2013) Congenital dyserythropoietic anemias: molecular insights and diagnostic approach. Blood 122:2162–2166. https://doi.org/10.1182/blood-2013-05-468223

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  13. 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.2010.10.010

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  14. Gambale A, Iolascon A, Andolfo I, Russo R (2016) Diagnosis and management of congenital dyserythropoietic anemias. Expert Rev Hematol 9:283–296. https://doi.org/10.1586/17474086.2016.1131608

    Article  CAS  PubMed  Google Scholar 

  15. Rangarajan HG, Stanek JR, Abdel-Azim H, Modi A, Haight A, McKinney CM, McKeone DJ, Buchbinder DK, Katsanis E, Abusin GA, Ahmed I, Law J, Silva JG, Mallhi KK, Burroughs LM, Shah N, Shaw PJ, Greiner R, Shenoy S, Pulsipher MA, Abu-Arja R (2022) Hematopoietic cell transplantation for congenital dyserythropoietic anemia: a report from the pediatric transplant and cellular therapy consortium. Transplant Cell Ther 28:329.e1-329.e9. https://doi.org/10.1016/j.jtct.2022.03.007

    Article  CAS  PubMed  Google Scholar 

  16. Miano M, Eikema DJ, Aljurf M, Van’t Veer PJ, Öztürk G, Wölfl M, Smiers F, Schulz A, Socié G, Vettenranta K, de Heredia CD, Zecca M, Maertens J, Rovira M, Sierra J, Uckan-Cetinkaya D, Skorobogatova E, Antmen AB, Dalle JH, Markiewicz M, Hamladji RM, Kitra-Roussou V, La Nasa G, Kriván G, Al-Seiraihy A, Giardino S, Risitano AM, de Latour RP, Dufour C (2019) Stem cell transplantation for congenital dyserythropoietic anemia: an analysis from the European Society for Blood and Marrow Transplantation. Haematologica 104:e335–e339. https://doi.org/10.3324/haematol.2018.206623

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  17. Li C, Wu X, Feng X, He Y, Liu H, Pei F, Liao J, He L, Shi L, Li N, Liu Q, Liu S, Chen G, Su Q, Ren Y, Wang Y, Tan W (2012) A novel conditioning regimen improves outcomes in β-thalassemia major patients using unrelated donor peripheral blood stem cell transplantation. Blood 120:3875–3881. https://doi.org/10.1182/blood-2012-03-417998

    Article  CAS  PubMed  Google Scholar 

  18. Angelucci E, Matthes-Martin S, Baronciani D, Bernaudin F, Bonanomi S, Cappellini MD, Dalle JH, Di Bartolomeo P, de Heredia CD, Dickerhoff R, Giardini C, Gluckman E, Hussein AA, Kamani N, Minkov M, Locatelli F, Rocha V, Sedlacek P, Smiers F, Thuret I, Yaniv I, Cavazzana M, Peters C (2014) Hematopoietic stem cell transplantation in thalassemia major and sickle cell disease: indications and management recommendations from an international expert panel. Haematologica 99:811–820. https://doi.org/10.3324/haematol.2013.099747

    Article  PubMed  PubMed Central  Google Scholar 

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Acknowledgements

We would like to thank the patient and his parents for their continuous support and participation in this study.

Funding

This study was financially supported by the Key Science and Technology Project of Zigong (grant no. 2020YXY04).

Author information

Authors and Affiliations

  1. Department of Hematology, Zigong First People’s Hospital, Zigong, China

    Kun Yang & Jian Xiao

  2. Department of Hematology, Liuzhou Worker’s Hospital, Liuzhou, China

    Weiye Nie

  3. Department of Hematology, The 923Rd Hospital of the Joint Logistics Support Force of the People’s Liberation Army, Nanning, China

    Qiuying Huang, Guiping Liao & Xiaolin Yin

Authors
  1. Kun Yang
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  2. Weiye Nie
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  3. Qiuying Huang
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  4. Guiping Liao
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  5. Jian Xiao
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  6. Xiaolin Yin
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Corresponding author

Correspondence to Xiaolin Yin.

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Ethics approval

The study protocol was approved by the Medical Ethics Committee of the First People’s Hospital of Zigong and the 923rd Hospital of the Joint Logistics Support Force of the People’s Liberation Army.

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Written informed consent was obtained from the participated family.

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The authors declare no competing interests.

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Yang, K., Nie, W., Huang, Q. et al. Hematopoietic cell transplantation for congenital dyserythropoietic anemia IV caused by compound heterozygous KLF1 mutations. Ann Hematol 102, 1621–1624 (2023). https://doi.org/10.1007/s00277-023-05175-9

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  • DOI: https://doi.org/10.1007/s00277-023-05175-9

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