| Literature DB >> 23713742 |
Blanche P Alter1, Philip S Rosenberg, Thomas Day, Stephan Menzel, Neelam Giri, Sharon A Savage, Swee Lay Thein.
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 = 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.Entities:
Keywords: Fanconi anaemia; dyskeratosis congenita; fetal haemoglobin; inherited bone marrow failure syndromes; quantitative trait loci
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Year: 2013 PMID： 23713742 PMCID： PMC3720816 DOI： 10.1111/bjh.12399
Source DB: PubMed Journal: Br J Haematol ISSN： 0007-1048 Impact factor: 6.998