Sickle Cell Anaemia is a single gene defect (Hb gene).
The type of mutation that causes a defect in the gene (causing sickle cell anaemia) is a substitution mutation.A single nucleotide substitution (A to T) in the β-globin gene causes the amino acid valine to replace glutamic acid. This changes the resulting protein, causing a haemoglobin with an abnormal shape to be created.
Sickle cell anemia is an example of pleiotropy because the mutation in the hemoglobin gene affects multiple organ systems and physiological functions. Individuals with this condition not only experience anemia, but also suffer from pain crises, increased risk of infections, and complications in various organs like the lungs and kidneys. This single genetic mutation leads to diverse and far-reaching effects, illustrating how one gene can influence multiple traits and health outcomes.
A single copy of the gene results in a person who is unlikely to develop full-blown sickle-cell anaemia, but has a strong resistance to malaria.
Sickle cell anemia causes sickle-shaped red blood cells. It is caused by a single base pair gene mutation.
Yes, a single gene can influence multiple traits through a concept called pleiotropy. This occurs when a gene has different effects on multiple phenotypic traits. An example of this is the gene responsible for sickle cell anemia, which can affect not only red blood cell shape but also resistance to malaria.
Sickle-cell anemia
In sickle cell anemia, glutamic acid is replaced by valine due to a single base change in the gene that codes for hemoglobin. This substitution causes the hemoglobin protein to form abnormal sickle-shaped red blood cells, leading to the symptoms of the disease.
A single sickle-cell gene protects against malaria. Two sickle-cell genes produce sickle-cell disease.
For sickle cell anemia, there is a single-point mutation in the beta-globin gene. The mutation causes a change in the mRNA sequence from GAG to GTG, resulting in the substitution of glutamic acid with valine at the 6th position of the beta-globin protein.
If a person has a single sickle cell allele they will have some sickles red blood cells, and some normal red blood cells. This is the origami purpose that this evolved for. If a person had a single sickle cell allele, they will be mostly resistant to malaria. This is why sickle cell anemia is most prevalent in areas of the world where malaria is common. However, if a person has two sickle cell anemia alleles, they will have ONLY sickled red blood cells. The "sickling" of the red blood cells is caused by a mutation in the protien that the gene codes for. That protein is hemoglobin, which carries oxygen through the blood. If a person has sickle cell anemia, parts of their body wil not get enough oxygen. They can pass out, loose sensation in the limb, or even die from it. In short, a person with two alleles is sick, and a person with one allele is not.
Sickle cell anemia is caused by a point mutation in the HBB gene, specifically a substitution of adenine for thymine in the sixth codon of the gene, resulting in the production of abnormal hemoglobin known as hemoglobin S.
Recessively, that means that both parents must be symptomless carriers then there is only a 1 in 4 chance that a given child will be born with the disease. Note: symptomless carriers have the strong advantage of being much more likely to survive malaria than "normals". Sickle cell disease is inherited through a single pair of genes (one gene from each parent), on chromosome 11. They must receive the gene from both parents in order to actually get sickle cell disease. If they receive one gene for sickle cell disease from one parent but a normal gene from another, they have "sickle cell trait." The genes that involve sickle cell control the production of hemoglobin (a protein) in red blood cells. Abnormal hemoglobin from sickle cell disease causes red blood cells to grow incorrectly. Persons with sickle cell trait are much more resistant to malaria (a common disease in Africa, where the gene originated) than persons having two normal genes. This makes the sickle cell gene very likely to persist in areas where malaria is endemic, like Africa.