Article
Genetic regulation of fetal haemoglobin in inherited bone marrow failure syndromes.
British journal of haematology - 1 Aug 2013
Alter Blanche P, Rosenberg Philip S, Day Thomas, Menzel Stephan, Giri Neelam, Savage Sharon A, Thein Swee Lay
Abstract excerpt
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...
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