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. 2022 Aug;198(3):459-477.
doi: 10.1111/bjh.18191. Epub 2022 Jun 6.

The use of next-generation sequencing in the diagnosis of rare inherited anaemias: A Joint BSH/EHA Good Practice Paper

Noémi B A Roy  1   2 , Lydie Da Costa  3 , Roberta Russo  4   5 , Paola Bianchi  6 , Maria Del Mar Mañú-Pereira  7 , Elisa Fermo  6 , Immacolata Andolfo  4   5 , Barnaby Clark  8 , Melanie Proven  9 , Mayka Sanchez  10   11 , Richard van Wijk  12 , Bert van der Zwaag  12 , Mark Layton  13 , David Rees  8 , Achille Iolascon  4   5 ; British Society for Haematology/ European Hematology Association
Affiliations

The use of next-generation sequencing in the diagnosis of rare inherited anaemias: A Joint BSH/EHA Good Practice Paper

Noémi B A Roy et al. Br J Haematol. 2022 Aug.
No abstract available

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References

REFERENCES

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    1. Agarwal AM, Nussenzveig RH, Reading NS, Patel JL, Sangle N, Salama ME, et al. Clinical utility of next-generation sequencing in the diagnosis of hereditary haemolytic anaemias. Br J Haematol. 2016;174(5):806-14. https://doi.org/10.1111/bjh.14131
    1. He Y, Luo J, Lei Y, Jia S, Liao N. A novel PKLR gene mutation identified using advanced molecular techniques. Pediatr Transplant. 2018;22(2). https://doi.org/10.1111/petr.13143
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    1. Hamada M, Doisaki S, Okuno Y, Muramatsu H, Hama A, Kawashima N, et al. Whole-exome analysis to detect congenital hemolytic anemia mimicking congenital dyserythropoietic anemia. Int J Hematol. 2018;108(3):306-11. https://doi.org/10.1007/s12185-018-2482-7

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