Chapter title |
Genetic Basis and Genetic Modifiers of β-Thalassemia and Sickle Cell Disease
|
---|---|
Chapter number | 2 |
Book title |
Gene and Cell Therapies for Beta-Globinopathies
|
Published in |
Advances in experimental medicine and biology, November 2017
|
DOI | 10.1007/978-1-4939-7299-9_2 |
Pubmed ID | |
Book ISBNs |
978-1-4939-7297-5, 978-1-4939-7299-9
|
Authors |
Swee Lay Thein, Thein, Swee Lay |
Abstract |
β-thalassemia and sickle cell disease (SCD) are prototypical Mendelian single gene disorders, both caused by mutations affecting the adult β-globin gene. Despite the apparent genetic simplicity, both disorders display a remarkable spectrum of phenotypic severity and share two major genetic modifiers-α-globin genotype and innate ability to produce fetal hemoglobin (HbF, α2γ2).This article provides an overview of the genetic basis for SCD and β-thalassemia, and genetic modifiers identified through phenotype correlation studies. Identification of the genetic variants modifying HbF production in combination with α-globin genotype provide some prediction of disease severity for β-thalassemia and SCD but generation of a personalized genetic risk score to inform prognosis and guide management requires a larger panel of genetic modifiers yet to be discovered.Nonetheless, genetic studies have been successful in characterizing some of the key variants and pathways involved in HbF regulation, providing new therapeutic targets for HbF reactivation. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 76 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Bachelor | 15 | 20% |
Student > Master | 9 | 12% |
Student > Ph. D. Student | 7 | 9% |
Lecturer | 5 | 7% |
Researcher | 4 | 5% |
Other | 7 | 9% |
Unknown | 29 | 38% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 16 | 21% |
Medicine and Dentistry | 15 | 20% |
Agricultural and Biological Sciences | 6 | 8% |
Nursing and Health Professions | 3 | 4% |
Pharmacology, Toxicology and Pharmaceutical Science | 2 | 3% |
Other | 3 | 4% |
Unknown | 31 | 41% |