HEMOFILIA: CONHEÇA MAIS SOBRE ESTA DOENÇA SEM CURA | MARCIO ATALLA

Summary

This video discusses hemophilia, a rare genetic disorder affecting blood clotting. Dr. Alessandra Borges and patient Deivid share insights on the disease, its symptoms, and advancements in treatment. Hemophilia, primarily affecting men, often manifests in early childhood with excessive bleeding and joint damage. The conversation highlights the importance of early diagnosis, treatment options, and the significant improvement in patients' quality of life through prophylactic care. Deivid shares his personal experience of living with hemophilia, emphasizing the positive impact of modern treatments on his ability to lead a normal, active life.

Takeaways

• 😀 Hemophilia is a rare, hereditary genetic disease that affects blood clotting, making it harder for the blood to form clots and control bleeding.
• 😀 The disease primarily affects males, as it is linked to the X chromosome, but it can also affect females in rare cases.
• 😀 Hemophilia typically manifests early in life, especially when children begin to move and become more susceptible to injuries, often resulting in frequent bruising and internal bleeding.
• 😀 Diagnosis of hemophilia can be challenging due to the lack of family history, making early detection critical for better management.
• 😀 Advances in treatment, such as prophylactic therapy, have significantly improved the quality of life for hemophilia patients, allowing them to lead a more normal life without constant fear of bleeding.
• 😀 Hemophilia treatment now includes regular factor replacement therapy, which helps prevent spontaneous bleeding and the associated joint damage.
• 😀 Despite improvements, challenges remain in ensuring equal access to treatment, particularly in regions with fewer resources and specialized medical personnel.
• 😀 For hemophilia patients, maintaining physical health through tailored exercises like swimming and weight training is crucial for strengthening muscles and protecting joints.
• 😀 Repeated bleeding in the same area, especially joints like the knees, elbows, and ankles, can lead to chronic inflammation and eventually joint deformities if not managed properly.
• 😀 Despite its challenges, with the right treatment and lifestyle management, hemophilia patients can lead productive, fulfilling lives, including working, exercising, and dreaming, just like anyone else.

Q & A

What is hemophilia, and what causes it?

Hemophilia is a rare genetic disease that affects blood coagulation. It is caused by a deficiency in one of the clotting factors in the blood, which prevents the blood from clotting properly. This leads to excessive bleeding, especially in cases of injury or trauma.

How is hemophilia transmitted?

Hemophilia is an X-linked hereditary disease, which means it is typically inherited from the mother, who is a carrier of the defective gene. It primarily affects males, as they only have one X chromosome, while females have two, making it less likely for them to develop the condition.

What are the common symptoms of hemophilia?

The main symptoms include prolonged bleeding, frequent bruising, and spontaneous bleeding, particularly in the joints, muscles, and sometimes internal organs. These symptoms are more severe in patients with severe hemophilia and usually manifest early in life.

At what age does hemophilia typically manifest?

Hemophilia often manifests within the first year of life, especially when children begin to crawl or walk, as they are more prone to falls and injuries. In severe cases, symptoms appear even earlier.

Can hemophilia be prevented?

Hemophilia cannot be prevented because it is a genetic condition. However, with early diagnosis and appropriate medical treatment, individuals with hemophilia can manage the disease effectively and lead a relatively normal life.

What advancements have been made in the treatment of hemophilia?

Advancements include the development of prophylactic treatment, where patients receive regular clotting factor infusions to prevent bleeding episodes. This has greatly improved the quality of life for individuals with hemophilia and has reduced complications, particularly joint damage.

What were the challenges for hemophilia patients before the advent of prophylactic treatment?

Before prophylactic treatment, patients had to wait for an injury or bleeding episode to occur before receiving clotting factor treatments. This often resulted in frequent bleeding episodes, which could lead to joint damage, deformities, and long-term disability.

How does prophylactic treatment improve the life of hemophilia patients?

Prophylactic treatment involves regular infusions of clotting factors, which help prevent spontaneous bleeding. This approach allows patients to live more freely, engaging in physical activities and leading a more normal life without the constant fear of bleeding episodes.

What are the common complications for untreated hemophilia patients?

Untreated hemophilia can lead to frequent internal bleeding, especially in the joints, which causes inflammation, joint degeneration, and eventually loss of mobility. In severe cases, untreated patients may require joint replacements due to permanent damage.

How does exercise and physical activity impact hemophilia patients?

Physical activity is important for strengthening the muscles around joints, which helps absorb impact and reduces strain on the joints. However, it is essential that patients consult with their doctors before engaging in any exercise to ensure the activity is safe and does not pose a risk of injury.