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Case Reports
. 2021 Apr 1;96(4):E121-E123.
doi: 10.1002/ajh.26099. Epub 2021 Feb 12.

VPS4A mutation in syndromic congenital hemolytic anemia without obvious signs of dyserythropoiesis

Ariane Lunati  1   2 , Arnaud Petit  3 , Hélène Lapillonne  4 , Christine Gameiro  1 , Virginie Saillour  5 , Catherine Garel  6 , Diane Doummar  7 , Leila Qebibo  8 , Abdelrazak Aissat  1   2 , Pascale Fanen  1   2 , Pablo Bartolucci  9   10 , Fréderic Galactéros  9   10 , Benoit Funalot  1   2   5 , Lydie Burglen  5   8   11 , Lamisse Mansour-Hendili  1   5   10
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Free article
Case Reports

VPS4A mutation in syndromic congenital hemolytic anemia without obvious signs of dyserythropoiesis

Ariane Lunati et al. Am J Hematol. .
Free article
No abstract available

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References

REFERENCES

    1. Rodger C, Flex E, Allison RJ, et al. De novo VPS4A mutations cause multisystem disease with abnormal neurodevelopment. Am J Hum Genet. 2020;107:1129-1148.
    1. Seu KG, Trump LR, Emberesh S, et al. VPS4A mutations in humans cause syndromic congenital Dyserythropoietic anemia due to cytokinesis and trafficking defects. Am J Hum Genet. 2020;107:1149-1156.
    1. Carayon K, Chaoui K, Ronzier E, et al. Proteolipidic composition of Exosomes changes during reticulocyte maturation. J Biol Chem. 2011;286:34426-34439.
    1. Russo R, Gambale A, Langella C, Andolfo I, Unal S, Iolascon A. Retrospective cohort study of 205 cases with congenital dyserythropoietic anemia type II: definition of clinical and molecular spectrum and identification of new diagnostic scores. Am J Hematol. 2014;89:E169-E175.
    1. Eskazan AE, Ar MC, Baslar Z. Intracranial extramedullary hematopoiesis in patients with thalassemia: a case report and review of the literature. Transfusion. 2012;52:1715-1720.

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