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Annals of Hematology
Published in: Annals of Hematology 6/2017

01-06-2017 | Letter to the Editor

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

Authors: Sha Liu, Hua Jiang, Lv-Yin Huang, Dong-Zhi Li

Published in: Annals of Hematology | Issue 6/2017

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Excerpt

Dear Editor, …
Literature
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Delaunay J (2007) The molecular basis of hereditary red cell membrane disorders. Blood Rev 21:1–20CrossRefPubMed
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Iolascon A, Avvisati RA, Piscopo C (2010) Hereditary spherocytosis. Transfus Clin Biol 17:138–142CrossRefPubMed
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Eber S, Lux SE (2004) Hereditary spherocytosis—defects in proteins that connect the membrane skeleton to the lipid bilayer. Semin Hematol 41:118–141CrossRefPubMed
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Delhommeau F, Cynober T, Schischmanoff PO et al (2000) Natural history of hereditary spherocytosis during the first year of life. Blood 95:393–397PubMed
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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 583:499–505CrossRefPubMed
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Holroyde CP, Oski FA, Gardner FH (1969) The “pocked” erythrocyte. Red-cell surface alterations in reticuloendothelial immaturity of the neonate. N Engl J Med 281:516–520CrossRefPubMed
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Kling PJ, Schmidt RL, Roberts RA, Widness JA (1996) Serum erythropoietin levels during infancy: associations with erythropoiesis. J Pediatr 128:791–796CrossRefPubMed
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Arcasoy MO, Gallagher PG (1995) Hematologic disorders and nonimmune hydrops fetalis. Semin Perinatol 19:502–515CrossRefPubMed
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Whitfield CF, Follweiler JB, Lopresti-Morrow L, Miller BA (1991) Deficiency of α-spectrin synthesis in burst-forming unitserythroid in lethal hereditary spherocytosis. Blood 78:3043–3051PubMed
Metadata
Title
A de novo ankyrin mutation (ANK1 Q109X) causing severe hereditary spherocytosis from preterm neonatal period
Authors
Sha Liu
Hua Jiang
Lv-Yin Huang
Dong-Zhi Li
Publication date
01-06-2017
Publisher
Springer Berlin Heidelberg
Published in
Annals of Hematology / Issue 6/2017
Print ISSN: 0939-5555
Electronic ISSN: 1432-0584
DOI
https://doi.org/10.1007/s00277-017-2966-1

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