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.
Consider the following statements regarding Haemophilia A:1. The gene ...
Gene for Hemophilia and Chromosome:
- Statement 1 is correct. The gene for hemophilia is carried on the X chromosome. Hemophilia is an X-linked recessive genetic disorder, which means that the gene responsible for the condition is located on the X chromosome.
- Since males have only one X chromosome (XY), they are more likely to inherit hemophilia if their mother passes on the affected X chromosome. On the other hand, females (XX) are less likely to inherit hemophilia because they have two X chromosomes, and the healthy X chromosome can compensate for the affected one.
Effect on Blood Clotting:
- Statement 2 is also correct. Hemophilia A affects the body's ability to form blood clots. People with hemophilia A have a deficiency in clotting factor VIII, which is necessary for the blood to clot properly.
- As a result, individuals with hemophilia A may experience prolonged bleeding even from minor injuries or cuts. They are also at risk of internal bleeding, especially in joints and muscles, which can lead to pain, swelling, and long-term damage if left untreated.
Therefore, both statements are correct, making option C - "Both 1 and 2" the correct answer.
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