Consider the following statements regarding Haemophilia A:1. The gene ...
Gene for Hemophilia:
- The first statement is correct. Hemophilia A is caused by a mutation in the gene for clotting factor VIII, which is located on the X chromosome.
- Since males have only one X chromosome, if they inherit the mutated gene, they will have hemophilia. On the other hand, females have two X chromosomes, so they would need to inherit two copies of the mutated gene to have hemophilia.
Effect on Blood Clotting:
- The second statement is also correct. Hemophilia A affects the body's ability to form blood clots.
- Clotting factor VIII is essential for blood clotting, and a deficiency or dysfunction of this factor can lead to prolonged bleeding even from minor injuries.
- This can result in spontaneous bleeding into joints, muscles, or other internal organs, leading to symptoms such as pain, swelling, and potential long-term damage if not treated promptly.
Conclusion:
Both statements are accurate in describing the genetic basis and physiological consequences of Hemophilia A. The condition is inherited in an X-linked recessive pattern, and it impairs the blood clotting process, leading to a higher risk of bleeding complications for affected individuals.
Consider the following statements regarding Haemophilia A:1. The gene ...
Recently, the union Science and Technology Minister told that India has conducted the first human clinical trial of gene therapy for ‘haemophilia A’ at Christian Medical College – Vellore.
- It is a genetic disorder that affects the body’s ability to form blood clots.
- It is a rare disorder in which the blood doesn't clot in the typical way because it doesn't have enough blood-clotting proteins.
- It is a sex linked disorder. The gene for hemophilia is carried on the X chromosome.
- Causes: It is caused by a mutation or change, in one of the genes, that provides instructions for making the clotting factor proteins needed to form a blood clot. This type is caused by a lack or decrease of clotting factor VIII.
- Symptoms: Signs and symptoms of hemophilia vary, depending on the level of clotting factors.
- Males are much more likely to have hemophilia than are females.
- Treatment:
- It involves replacement therapy, which involves infusing clotting factor concentrates into the bloodstream to help the blood clot.
- Other treatments may include medications to promote clotting or surgery to repair damage caused by bleeding.
What is Gene therapy?
- It is a technique that modifies a person’s genes to treat or cure disease.
- Gene therapies can work by several mechanisms:
- Replacing a disease-causing gene with a healthy copy of the gene
- Inactivating a disease-causing gene that is not functioning properly
- Introducing a new or modified gene into the body to help treat a disease
- Gene therapy products are being studied to treat diseases including cancer, genetic diseases, and infectious diseases.
Hence both statements are correct.
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