Chapter title |
Genome Editing for the β-Hemoglobinopathies
|
---|---|
Chapter number | 8 |
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_8 |
Pubmed ID | |
Book ISBNs |
978-1-4939-7297-5, 978-1-4939-7299-9
|
Authors |
Matthew H. Porteus, Porteus, Matthew H. |
Abstract |
The β-hemoglobinopathies are diverse set of disorders caused by mutations in the β-globin (HBB) gene. Because HBB protein is a critical component (along with α-globin, heme, and iron) of hemoglobin, the molecule essential for oxygen delivery to tissues, mutations in HBB can result in lethal diseases or diseases with multi-organ dysfunction. HBB mutations can be roughly divided into two categories: those that cause a dysfunctional protein (such as sickle cell disease but also including varied diseases caused by high-affinity hemoglobins, low-affinity hemoglobins, and methemoglobinemia) and those that cause the insufficient production of HBB protein (β-thalassemia). Sickle cell disease and β-thalassemia are both the most prevalent and the most devastating of the β-hemoglobinopathies. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 19 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 3 | 16% |
Student > Ph. D. Student | 3 | 16% |
Student > Bachelor | 2 | 11% |
Student > Master | 2 | 11% |
Other | 2 | 11% |
Other | 3 | 16% |
Unknown | 4 | 21% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 8 | 42% |
Medicine and Dentistry | 5 | 26% |
Pharmacology, Toxicology and Pharmaceutical Science | 2 | 11% |
Engineering | 1 | 5% |
Unknown | 3 | 16% |