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. 2024 Jan 26;8(1):e31.
doi: 10.1002/hem3.31. eCollection 2024 Jan.

A single-center cohort study of patients with hereditary spherocytosis in Central Europe reveals a high frequency of novel disease-causing genotypes

Leo Kager  1   2 , Raúl Jimenez-Heredia  2   3   4 , Petra Zeitlhofer  5 , Wolfgang Novak  1 , Sebastian K Eder  1   2 , Anna Segarra-Roca  2   3 , Alexandra Frohne  2   3 , Karin Nebral  5 , Matthias Haimel  2   3   6 , René Geyeregger  2 , Katharina Roetzer-Londgin  2   5 , Oskar A Haas  1   2   5 , Kaan Boztug  1   2   3   4   6
Affiliations

A single-center cohort study of patients with hereditary spherocytosis in Central Europe reveals a high frequency of novel disease-causing genotypes

Leo Kager et al. Hemasphere. .
No abstract available

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Conflict of interest statement

Leo Kager reports acting on the advisory board of Agios, Amgen, Bayer, and Novartis (unrelated to this study). The remaining authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Two‐dimensional protein representation of (A) ANK1, (B) SLC4A1, (C) SPTB, and (D) SPTA1. In red, are newly described mutations. In black, are mutations previously reported in the literature. The colors of the circles define the type of mutation: orange for frameshifts, pink for nonsense, light green for intronic, dark green for missense, and blue for splicing mutations.
See this image and copyright information in PMC

References

    1. Iolascon A, Andolfo I, Russo R. Advances in understanding the pathogenesis of red cell membrane disorders. Br J Haematol. 2019;187(1):13‐24. 10.1111/bjh.16126 - DOI - PubMed
    1. Perrotta S, Gallagher PG, Mohandas N. Hereditary spherocytosis. Lancet. 2008;372(9647):1411‐1426. 10.1016/S0140-6736(08)61588-3 - DOI - PubMed
    1. Wang WJ, Xie J, Yao H, et al. Identification of variants in 94 Chinese patients with hereditary spherocytosis by next‐generation sequencing. Clin Genet. 2023;103(1):67‐78. 10.1111/cge.14244 - DOI - PubMed
    1. Van Vuren A, Van Der Zwaag B, Huisjes R, et al. The complexity of genotype–phenotype correlations in hereditary spherocytosis: a cohort of 95 patients: genotype–phenotype correlation in hereditary spherocytosis. HemaSphere. 2019;3(4):e276. 10.1097/HS9.0000000000000276 - DOI - PMC - PubMed
    1. Tole S, Dhir P, Pugi J, et al. Genotype–phenotype correlation in children with hereditary spherocytosis. Br J Haematol. 2020;191(3):486‐496. 10.1111/bjh.16750 - DOI - PubMed