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A de novo ankyrin mutation (ANK1 Q109X) causing severe hereditary spherocytosis from preterm neonatal period

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References

  1. Delaunay J (2007) The molecular basis of hereditary red cell membrane disorders. Blood Rev 21:1–20

    Article  CAS  PubMed  Google Scholar 

  2. Iolascon A, Avvisati RA, Piscopo C (2010) Hereditary spherocytosis. Transfus Clin Biol 17:138–142

    Article  CAS  PubMed  Google Scholar 

  3. Eber S, Lux SE (2004) Hereditary spherocytosis—defects in proteins that connect the membrane skeleton to the lipid bilayer. Semin Hematol 41:118–141

    Article  CAS  PubMed  Google Scholar 

  4. Delhommeau F, Cynober T, Schischmanoff PO et al (2000) Natural history of hereditary spherocytosis during the first year of life. Blood 95:393–397

    CAS  PubMed  Google Scholar 

  5. Silva AL, Romão L (2009) The mammalian nonsense-mediated mRNA decay pathway: to decay or not to decay! Which players make the decision? FEBS Lett 583:499–505

    Article  CAS  PubMed  Google Scholar 

  6. Holroyde CP, Oski FA, Gardner FH (1969) The “pocked” erythrocyte. Red-cell surface alterations in reticuloendothelial immaturity of the neonate. N Engl J Med 281:516–520

    Article  CAS  PubMed  Google Scholar 

  7. Kling PJ, Schmidt RL, Roberts RA, Widness JA (1996) Serum erythropoietin levels during infancy: associations with erythropoiesis. J Pediatr 128:791–796

    Article  CAS  PubMed  Google Scholar 

  8. Arcasoy MO, Gallagher PG (1995) Hematologic disorders and nonimmune hydrops fetalis. Semin Perinatol 19:502–515

    Article  CAS  PubMed  Google Scholar 

  9. Whitfield CF, Follweiler JB, Lopresti-Morrow L, Miller BA (1991) Deficiency of α-spectrin synthesis in burst-forming unitserythroid in lethal hereditary spherocytosis. Blood 78:3043–3051

    CAS  PubMed  Google Scholar 

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Acknowledgements

This study was supported by Guangdong Provincial Department of Science and Technology Agency, Guangzhou, People’s Republic of China [2016A020215218].

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Authors and Affiliations

  1. Department of Hematology/Oncology, Guangzhou Women & Children Medical Center affiliated to Guangzhou Medical University, Guangzhou, Guangdong, China

    Sha Liu & Hua Jiang

  2. Molecular Genetics Unit, Guangzhou Women & Children Medical Center affiliated to Guangzhou Medical University, Jinsui Road 9, Zhujiang New Town, Guangzhou, Guangdong, 510623, China

    Lv-Yin Huang & Dong-Zhi Li

Authors
  1. Sha Liu
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  2. Hua Jiang
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  3. Lv-Yin Huang
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  4. Dong-Zhi Li
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Corresponding author

Correspondence to Dong-Zhi Li.

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The authors declare that they have no conflict of interest.

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Informed consent was obtained from all patients for being included in the study.

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Liu, S., Jiang, H., Huang, LY. et al. A de novo ankyrin mutation (ANK1 Q109X) causing severe hereditary spherocytosis from preterm neonatal period. Ann Hematol 96, 1067–1068 (2017). https://doi.org/10.1007/s00277-017-2966-1

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  • DOI: https://doi.org/10.1007/s00277-017-2966-1

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