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 language | English |
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Pages (from-to) | 542-546 |
Number of pages | 5 |
Journal | British Journal of Haematology |
Volume | 162 |
Issue number | 4 |
DOIs | |
Publication status | Published - Aug 2013 |
Keywords
- dyskeratosis congenita
- Fanconi anaemia
- fetal haemoglobin
- inherited bone marrow failure syndromes
- quantitative trait loci