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.
Published 2013. This article is a U.S. Government work and is in the public domain in the USA.
Publication types
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Research Support, N.I.H., Extramural
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Research Support, N.I.H., Intramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Adult
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Alleles
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Anemia, Aplastic
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Anemia, Diamond-Blackfan / blood
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Anemia, Diamond-Blackfan / genetics
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Bone Marrow Diseases / blood
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Bone Marrow Diseases / genetics
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Bone Marrow Failure Disorders
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Carrier Proteins / genetics
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Child
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Child, Preschool
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Dyskeratosis Congenita / blood
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Dyskeratosis Congenita / genetics
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Exocrine Pancreatic Insufficiency / blood
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Exocrine Pancreatic Insufficiency / genetics
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Fanconi Anemia / blood
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Fanconi Anemia / genetics
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Female
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Fetal Hemoglobin / biosynthesis*
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Fetal Hemoglobin / genetics
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Gene Expression Regulation, Developmental*
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Genes, myb
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Hemoglobinuria, Paroxysmal / blood
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Hemoglobinuria, Paroxysmal / genetics*
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Humans
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Lipomatosis / blood
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Lipomatosis / genetics
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Male
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Middle Aged
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Nuclear Proteins / genetics
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Polymorphism, Single Nucleotide
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Quantitative Trait Loci
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Repressor Proteins
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Shwachman-Diamond Syndrome
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Young Adult
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gamma-Globins / biosynthesis
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gamma-Globins / genetics*
Substances
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BCL11A protein, human
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Carrier Proteins
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Nuclear Proteins
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Repressor Proteins
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gamma-Globins
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Fetal Hemoglobin