How does sickle cell anemia occur--what type of mmutation is it--is it a substitution, deletion, or insertion mutation--or is it all three?
Also, How would gene splicing, cloning, or stem cells help a patient with sickle cell---would any of these be any help at all..how???
sickle cell anemia is an autosomal recessive trait. it is caused by the production of an abnormal type of hemoglobin. the proteins of the hemoglobin stick together, making the red blood cell rigid and form into a sickle shape. its a mutation of a single nucleotide, which i think would be considered a substitution.
ok thank you that makes sense.....but do you know how gene splicing, cloning or stem cells would help a patient
Sickle cell anemia is a genetic disorder that occurs due to a specific type of mutation in the hemoglobin gene. The mutation responsible for sickle cell anemia is a substitution mutation, specifically a single nucleotide polymorphism (SNP). An SNP means that there is a change in a single nucleotide base pair within the DNA sequence.
In sickle cell anemia, a substitution mutation leads to the replacement of a single amino acid (glutamic acid) in the hemoglobin protein with another amino acid (valine). This alteration results in the production of abnormal hemoglobin called hemoglobin S (HbS), which causes the red blood cells to become sickle-shaped instead of their normal disc shape.
Regarding your second question, gene splicing, cloning, and stem cells hold potential for helping patients with sickle cell anemia, although each approach presents different possibilities and challenges:
1. Gene splicing: Gene splicing aims to introduce corrected genetic material into the patient's cells. It involves modifying the patient's own cells outside the body by replacing the mutated gene with a functioning copy of the gene. These modified cells are then returned to the patient. In the case of sickle cell anemia, gene splicing could theoretically correct the genetic mutation responsible for the disease, leading to the production of healthy hemoglobin.
2. Cloning: Cloning technologies have the potential to generate genetically identical copies of an individual's cells or tissues. However, its application to sickle cell anemia treatment is currently limited. Cloning could potentially be used to create healthy copies of the patient's bone marrow cells, which are responsible for producing red blood cells. These healthy cells could then be reintroduced to the patient to replace the diseased cells. However, therapeutic cloning is still an area of intensive research and has not yet been widely implemented.
3. Stem cells: Stem cells are undifferentiated cells that have the ability to develop into various cell types in the body. Stem cell therapy offers promise for treating sickle cell anemia by providing a source of healthy red blood cells. By replacing the patient's defective stem cells with healthy stem cells, it is possible to generate normal red blood cells. This approach is known as bone marrow transplantation or hematopoietic stem cell transplantation.
It's important to note that while these approaches hold potential, they are still under development and may require further research and testing before becoming widely available for sickle cell anemia treatment.