Genetic regulation of fetal haemoglobin in inherited bone marrow failure syndromes | Zendy

Alter Blanche P. | Zendy; Rosenberg Philip S. | Zendy; Day Thomas | Zendy; Menzel Stephan | Zendy; Giri Neelam | Zendy; Savage Sharon A. | Zendy; Thein Swee Lay | Zendy

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Genetic regulation of fetal haemoglobin in inherited bone marrow failure syndromes

Author(s) -

Alter Blanche P.,

Rosenberg Philip S.,

Day Thomas,

Menzel Stephan,

Giri Neelam,

Savage Sharon A.,

Thein Swee Lay

Publication year - 2013

Publication title -

british journal of haematology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.907

H-Index - 186

eISSN - 1365-2141

pISSN - 0007-1048

DOI - 10.1111/bjh.12399

Subject(s) - macrocytosis , erythropoiesis , fanconi anemia , bone marrow failure , erythropoietin , ineffective erythropoiesis , bone marrow , dyskeratosis congenita , medicine , allele , anemia , immunology , endocrinology , biology , genetics , haematopoiesis , stem cell , gene , dna repair , telomere

Summary 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, HBS 1L‐ MYB , BCL 11A and Xmn1 ‐ HBG 2 . 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 ‐ HBG 2 [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 ‐ HBG 2, as it is in the haemoglobinopathies.

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