Publication: Genetic modifiers in hemoglobinopathies
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Issued Date
2008-12-01
Resource Type
ISSN
15665240
Other identifier(s)
2-s2.0-59249088084
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Mahidol University
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SCOPUS
Bibliographic Citation
Current Molecular Medicine. Vol.8, No.7 (2008), 600-608
Suggested Citation
Deborah Rund, Suthat Fucharoen Genetic modifiers in hemoglobinopathies. Current Molecular Medicine. Vol.8, No.7 (2008), 600-608. doi:10.2174/156652408786241410 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/18811
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Title
Genetic modifiers in hemoglobinopathies
Author(s)
Abstract
Hereditary anemias show considerable variation in their clinical presentation. In some cases, the causes of these variations are easily apparent. In thalassemia (or in HbE/thalassemia), genetic variation is primarily caused by the severity of the thalassemia mutation. However, not uncommonly, there is variation unexplained by the globin gene mutations themselves, which may be caused by genetic modifiers. In sickle cell disease, the primary mutation is the same in all patients. Therefore, variations in disease severity generally are due to genetic modifiers. In most genetic diseases involving beta globin, the most clearcut influence on pheno-type results from elevated fetal hemoglobin levels. In addition, alpha globin gene number can influence disease phenotype. In thalassemia major or intermedia, reduction in the, number of alpha globin genes can ameliorate the disease phenotype; conversely, excess alpha globin genes can convert beta thalassemia trait to a clinical picture of thalassemia intermedia. In sickle cell disease, the number of alpha globin genes has both ameliorating and exacerbating effects, depending on which disease manifestation is being examined. Unlinked genetic factors have substantial effects on the phenotype of hereditary anemias, both on the anemia and other disease manifestations. Recently, studies using genome-wide techniques, particularly studying QTLs causing elevated HbF, or affecting HbE/thalassemia, have revealed other genetic elements whose mechanisms are under study. The elucidation of genetic modifiers will hopefully lead to more rational and effective management of these diseases. © 2008 Bentham Science Publishers Ltd.