Ads
related to: sickle cell anemia mutation valine- Prescribing Information
View Full Prescribing Information &
Indications and Usage.
- Important Safety Info
View Warnings and Precautions.
Understand the Potential Risks.
- Find Treatment Centers
Find an Authorized Treatment Center
By Using the Map Search Feature.
- Safety and Side Effects
Review the Safety Profile
and Potential Side Effects.
- Treatment Journey
Learn More About Treatment And
See If It's Right for Your Patients
- Mechanism of Action
See How Gene Therapy Works.
Learn What CASGEVY® Is.
- Prescribing Information
Search results
Results From The WOW.Com Content Network
Sickle cell disease (SCD), also simply called sickle cell, is a group of hemoglobin-related blood disorders typically inherited. [2] The most common type is known as sickle cell anemia. [2] It results in an abnormality in the oxygen-carrying protein haemoglobin found in red blood cells. [2] This leads to a rigid, sickle -like shape under ...
Sickle-cell anemia is an autosomal recessive disorder that affects 1 in 500 African Americans, and is one of the most common blood disorders in the United States. [17] The single replacement of the sixth amino acid in the beta-globin, glutamic acid, with valine results in deformed red blood cells. These sickle-shaped cells cannot carry nearly ...
This can lead to changes in protein structure or function, which can cause potentially lead to changes in phenotype, sometimes pathogenic. A well known example in humans is sickle cell anemia, due to a mutation in beta globin where at position 6 glutamic acid (negatively charged) is exchanged with valine (not charged).
In patients with sickle cell disease, red blood cells, which are usually disk-shaped, take on a crescent or sickle shape. This change can cause cells to clump together, leading to clots and ...
In the most common variant of sickle-cell disease, the 20th nucleotide of the gene for the beta chain of hemoglobin is altered from the codon GAG to GTG. Thus, the 6th amino acid glutamic acid is substituted by valine—notated as an "E6V" mutation—and the protein is sufficiently altered to cause the sickle-cell disease. [5]
A sickle allele is always the same mutation of the beta-globin gene (glutamic acid to valine at amino acid six). In contrast, beta-thalassemia alleles can be created by many different mutations including both deletion and non-deletion forms.
Ads
related to: sickle cell anemia mutation valine