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Comment
. 2022 Mar;196(6):e70-e71.
doi: 10.1111/bjh.17985. Epub 2021 Dec 1.

A novel SUPT5H variant associated with a beta-thalassaemia trait

Theo Charnay  1   2 , Mathieu Cerino  1   2 , Katia Gonnet  1 , Nathalie Bonello-Palot  1   2 , Marie-Pierre Bréchard  3 , Catherine Badens  1   2
Affiliations
Comment

A novel SUPT5H variant associated with a beta-thalassaemia trait

Theo Charnay et al. Br J Haematol. 2022 Mar.
No abstract available

Keywords: haemoglobinopathies; molecular diagnostics; red cell disorders; thalassaemia.

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Comment on

  • A new gene associated with a β-thalassemia phenotype: the observation of variants in SUPT5H.
    Achour A, Koopmann T, Castel R, Santen GWE, den Hollander N, Knijnenburg J, Ruivenkamp CAL, Arkesteijn SGJ, Ter Huurne J, Bisoen S, Verschuren M, Vijfhuizen L, Schaap R, Grimbergen A, Slomp J, Traeger-Synodinos J, Vrettou C, Pissard S, Galacteros F, Baas F, Harteveld CL. Achour A, et al. Blood. 2020 Oct 8;136(15):1789-1793. doi: 10.1182/blood.2020005934. Blood. 2020. PMID: 32589702 No abstract available.

References

    1. Thein SL. Molecular basis of beta thalassemia and potential therapeutic targets. Blood Cells Mol Dis. 2018;70:54-65.
    1. Achour A, Koopmann TT, Castel R, Santen GWE, den Hollander N, Knijnenburg J, et al. A new gene associated with a beta-thalassemia phenotype: the observation of variants in SUPT5H. Blood. 2020;136(15):1789-93.
    1. Yamaguchi Y, Wada T, Watanabe D, Takagi T, Hasegawa J, Handa H. Structure and function of the human transcription elongation factor DSIF. J Biol Chem. 1999;274(12):8085-92.
    1. Perseu L, Satta S, Moi P, Demartis FR, Manunza L, Sollaino MC, et al. KLF1 gene mutations cause borderline HbA(2). Blood. 2011;118(16):4454-8.
    1. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17 (5):405-24.

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