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

Research output: Contribution to journalArticle


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 = 0·04 for the total group, driven by Fanconi anaemia (P = 0·02) and dyskeratosis congenita (P = 0·09)]. Thus Hb F is regulated in IBMFS by Xmn1-HBG2, as it is in the haemoglobinopathies. Published 2013. This article is a U.S. Government work and is in the public domain in the USA.

Original languageEnglish (US)
Pages (from-to)542-546
Number of pages5
JournalBritish Journal of Haematology
Issue number4
StatePublished - Aug 2013
Externally publishedYes



  • Dyskeratosis congenita
  • Fanconi anaemia
  • Fetal haemoglobin
  • Inherited bone marrow failure syndromes
  • Quantitative trait loci

ASJC Scopus subject areas

  • Hematology

Cite this

Alter, B. P., Rosenberg, P. S., Day, T., Menzel, S., Giri, N., Savage, S. A., & Thein, S. L. (2013). Genetic regulation of fetal haemoglobin in inherited bone marrow failure syndromes. British Journal of Haematology, 162(4), 542-546.