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Br J Haematol. 2013 Aug;162(4):542-6. doi: 10.1111/bjh.12399. Epub 2013 May 29.

Genetic regulation of fetal haemoglobin in inherited bone marrow failure syndromes.

Author information

1
Clinical Genetics Branch, Division of Clinical Epidemiology and Genetics, National Cancer Institute, National Institutes of Health/DCEG/CGB Branch, 9609 Medical Center Dr, Rm 6E452, Bethesda, MD 20892, USA. alterb@mail.nih.gov

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.

KEYWORDS:

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

PMID:
23713742
PMCID:
PMC3720816
DOI:
10.1111/bjh.12399
[Indexed for MEDLINE]
Free PMC Article
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