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Haemophilia: Maria Patricia R. Moran BS Biology University of Santo Tomas

Haemophilia is a genetic bleeding disorder caused by deficiencies in specific clotting factors, which prevents normal blood clotting and causes prolonged bleeding. There are two main types of haemophilia - type A is caused by a lack of clotting factor VIII, while type B or Christmas disease results from a deficiency in factor IX. Haemophilia is inherited and can range from mild to severe. Symptoms include bleeding into joints, muscles, and internal organs. Treatment focuses on factor replacement therapy to control bleeding episodes. Gene therapy shows promise as a potential permanent treatment.

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30 views

Haemophilia: Maria Patricia R. Moran BS Biology University of Santo Tomas

Haemophilia is a genetic bleeding disorder caused by deficiencies in specific clotting factors, which prevents normal blood clotting and causes prolonged bleeding. There are two main types of haemophilia - type A is caused by a lack of clotting factor VIII, while type B or Christmas disease results from a deficiency in factor IX. Haemophilia is inherited and can range from mild to severe. Symptoms include bleeding into joints, muscles, and internal organs. Treatment focuses on factor replacement therapy to control bleeding episodes. Gene therapy shows promise as a potential permanent treatment.

Uploaded by

patricia_moran_4
Copyright
© Attribution Non-Commercial (BY-NC)
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Download as PPT, PDF, TXT or read online on Scribd
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Haemophilia

Maria Patricia R. Moran BS Biology University of Santo Tomas

How does normal bleeding stop?

capillary tightens up platelets make a plug

clotting factors form the clot over the plug

What happens in haemophilia?

Lacking or insufficient clotting factors

Haemophilia has two types.


1.) Haemophilia A - Deficiency of clot factor VIII

2.) Haemophilia B (Christmas Disease) -Deficiency of clot factor IX

Haemophilia varies in degrees of severity.

How do people get haemophilia?


Acquired through inheritance

Sex chromosome with haemophilia gene

The pattern of inheritance depends on which parent carries the disease.

What are the signs of haemophilia?


1.) Haematoma 2.) Bleeding gums

What are the signs of haemophilia?


3.) Joint bleeding

4.) Nose bleeding

Diagnostic tests are conducted to confirm the disease.


1.) Levels of clotting factors 2.) How long it takes for blood to clot

How can bleeding be treated?


First aid procedures:

R est I ce C ompress

E levate

How is haemophilia temporarily treated?


1.) Factor replacement therapy

2.) Immune tolerance therapy

What are the signs of recovery from bleeding?


1.) Full movement
2.) Full strength

What can be done to stay healthy?


1.) Exercise and stay fit

What can be done to stay healthy?


2.) Regular check-ups

What can be done to stay healthy?


3.) Vaccinations

An ounce of prevention is worth a pound of cure.

How can we prevent haemophilia?


1.) Prenatal diagnosis 2.) Genetic counselling 3.) Pre-implantation genetic diagnosis

One promising permanent treatment for haemophilia is gene therapy.

References
http://www1.wfh.org/en/index.html 120 Diseases: The Essential Guide to More Than 120 Medical Conditions, Syndromes and Diseases by Professor Peter Abrahams

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