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Haemophilia
Context:
Researchers at the Christian Medical College in Vellore, India, have reported successful gene therapy treatment for severe haemophilia A.
More on News:
- Traditional treatments involve regular infusions of clotting factor concentrates, which can be costly and inconvenient. However, recent advancements in gene therapy offer a promising alternative.
- The study used a lentiviral vector to deliver the functional gene into the patient’s blood stem cells.
Current Treatment for Haemophilia:
- Replacement Therapy: The primary treatment involves injecting clotting factor VIII (for haemophilia A) or factor IX (for haemophilia B) to prevent bleeding. These clotting factors can be derived from human blood or produced as recombinant clotting factors.
- A challenge with replacement therapy is that the body may produce antibodies that destroy the clotting factor before it can work.
- Other Treatments: Desmopressin (DDAVP) is used for mild haemophilia A but is not applicable for severe haemophilia A or haemophilia B.
Gene Therapy Approach:
- Gene therapy involves introducing a “corrected” gene into the patient’s cells to produce normal levels of the necessary clotting factor. This aims to provide a permanent solution to haemophilia by correcting the defective gene.
- The FDA-approved gene therapy Roctavian uses an adeno-associated virus (AAV) vector to deliver the gene for clotting factor VIII into the liver cells, increasing FVIII production.
- Roctavian was shown to reduce bleeding rates significantly in clinical trials, but its effectiveness may diminish over time, and it requires corticosteroid treatment to suppress immune responses.
About Haemophilia:
- Hemophilia is a rare, inherited bleeding disorder that affects the blood’s ability to clot properly due to deficiencies in specific clotting factors.
- Causes: It is usually inherited through an X-linked recessive pattern, meaning it primarily affects males. Females can be carriers and may have mild symptoms if they inherit one affected X chromosome.
- Types:
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- Haemophilia A: Caused by a deficiency in clotting factor VIII.
- Haemophilia B: Caused by a deficiency in clotting factor IX.
- Haemophilia C: Caused by a deficiency in clotting factor XI.
- Symptoms:
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- Excessive Bleeding: Prolonged bleeding from cuts, injuries, or after surgeries.
- Spontaneous Bleeding: Bleeding without any apparent cause, often into joints and muscles.
- Bruising: Easy bruising with large or deep bruises.
- Joint Pain and Swelling: Due to bleeding into joints, which can lead to permanent damage if not treated.
- Diagnosis: Blood tests to measure the levels of clotting factors and assess the blood’s ability to clot.
- Treatment: Regular replacement of the missing clotting factors, either through infusions of clotting factor concentrates or newer therapies that do not contain clotting factors. Gene therapy is also being researched as a potential cure.
Advantages of Gene Therapy:
- Long-term Solution: Unlike traditional treatments that require ongoing infusions, gene therapy offers a one-time treatment that can provide long-lasting benefits.
- Improved Quality of Life: By reducing the frequency of bleeding episodes, gene therapy can significantly improve the quality of life for haemophilia A patients.
- Accessibility: Gene therapy has the potential to be more accessible, especially in low-resource settings, where traditional treatments may be difficult to administer.
