Genetic regulation of fetal haemoglobin in inherited bone marrow failure syndromes

Blanche P. Alter*, Philip S. Rosenberg, Thomas Day, Stephan Menzel, Neelam Giri, Sharon A. Savage, Swee Lay Thein

*Corresponding author for this work

    Research output: Contribution to journalArticlepeer-review

    23 Citations (Scopus)

    Abstract

    Patients with inherited bone marrow failure syndromes (IBMFS) have stress erythropoiesis', with anaemia, macrocytosis, increased fetal haemoglobin (Hb F) and high erythropoietin levels. In haemoglobinopathies, Hb F levels are regulated by 3 quantitative trait loci, HBS1L-MYB, BCL11A and Xmn1-HBG2. In our study of 97 patients with an IBMFS, increased Hb F was associated with young age, male gender, anaemia, high erythropoietin levels, and alternative alleles in Xmn1-HBG2 [adjusted P=004 for the total group, driven by Fanconi anaemia (P=002) and dyskeratosis congenita (P=009)]. Thus Hb F is regulated in IBMFS by Xmn1-HBG2, as it is in the haemoglobinopathies.

    Original languageEnglish
    Pages (from-to)542-546
    Number of pages5
    JournalBritish Journal of Haematology
    Volume162
    Issue number4
    DOIs
    Publication statusPublished - Aug 2013

    Keywords

    • dyskeratosis congenita
    • Fanconi anaemia
    • fetal haemoglobin
    • inherited bone marrow failure syndromes
    • quantitative trait loci

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