Bibliographic Details
| Title: |
Sickle Cell Disease: From Genetics to Curative Approaches. |
| Authors: |
Hardouin, Giulia1,2,3 (AUTHOR) alice.corsia@gmail.com, Magrin, Elisa2 (AUTHOR), Corsia, Alice3 (AUTHOR), Cavazzana, Marina2,4,5 (AUTHOR), Miccio, Annarita1 (AUTHOR), Semeraro, Michaela5,6 (AUTHOR) michaela.semeraro@aphp.fr |
| Source: |
Annual Review of Genomics & Human Genetics. 2023, Vol. 24, p255-275. 21p. |
| Abstract: |
Sickle cell disease (SCD) is a monogenic blood disease caused by a point mutation in the gene coding for β-globin. The abnormal hemoglobin [sickle hemoglobin (HbS)] polymerizes under low-oxygen conditions and causes red blood cells to sickle. The clinical presentation varies from very severe (with acute pain, chronic pain, and early mortality) to normal (few complications and a normal life span). The variability of SCD might be due (in part) to various genetic modulators. First, we review the main genetic factors, polymorphisms, and modifier genes that influence the expression of globin or otherwise modulate the severity of SCD. Considering SCD as a complex, multifactorial disorder is important for the development of appropriate pharmacological and genetic treatments. Second, we review the characteristics, advantages, and disadvantages of the latest advances in gene therapy for SCD, from lentiviral-vector-based approaches to gene-editing strategies. [ABSTRACT FROM AUTHOR] |
|
Copyright of Annual Review of Genomics & Human Genetics is the property of Annual Reviews Inc. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) |
| Database: |
Academic Search Complete |
