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Hemophilia.pptx

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Hemophilia.pptx

  1. 1. Hemophilia actually comprises several genetic abnormalities, resulting in altered production of either factors VIII (hemophilia A), IX (hemophilia B), or XI (hemophilia C). Factors VIII, IX, and XI are proteins manufactured in the liver that are necessary in the clotting cascade and coagulation.
  2. 2. Hemophilia A is a sex linked recessive disorder that affects approximately 1 in 5,000 male births in Europe and North American. The portion of the gene that correlates to factor VIII production is quite large, and severity of disease is linked to the portion of the gene affected; a functional factor VIII level 1% or less than normal results from drastic deletions of genetic material. Factor VIII is a protein produced in the liver that plays a major role in the intrinsic pathway of the clotting cascade, and is essential in activating factor X which causes the development of prothrombin and. Without adequate coagulation and clot formation, hemostasis cannot be obtained and pathophysiologic bleeding ensues. Without development of thrombin and eventually fibrin, stable
  3. 3. The important questions related to this topic: 1.Define Haemophillia and classify it. 2.Differentiate between each type of Haemophillia. 3.what will happen if (a) mother is hemophillic, father is normal (b) Father is hemophilic, mother is normal (c) Father is normal, mother is carrier (d) Father is hemophillic, mother is carrier. 4.Explain the pathophysiology of Haemophilia. 5.Point out the treatment given for Haemophilia.

Hinweis der Redaktion

  • Aa you can see that out of 10,000 people, every 1 person in born with Hemophilia. Although the prevalence is quite low, but it is an inherited disease.
  • Now the question comes, what is haemophilia???

    “Hemo” means blood and “philia” refers to something abnormal. So basically it refers to abnormality in bleeding. Haemophilia is a bleeding disorder, where the clotting factors are missing. Therefore, a patient of haemophilia if ever get a cut, they will not stop bleeding for a longer period of time.
  • Haemophilia is classified under 3 types: (please revise the clotting factors if you have forgotten them)

    Haemophilia type A: most common (8 out of 10 person are of this type). They lack the clotting factor VIII

    Haemophilia type B: They lack the clotting factor IX.

    Haemophilia type C: a mild form of Hemophillia. Patient having this type of hemophillia lack factor XI.
  • Now this hemophillia is a sex linked disease, where the gene “X” is very crucial.

    For women (X’X’) = Hemophilic patient ; (X’X) = Carrier female

    For males (XY) = Normal; (X’Y) Patient.

    That means a male can never be a carrier. They can either be normal or a patient.

    But in case of females, they can be either carrier or affected (patient). (Practice the exercise by yourself)
  • Revision of the mechanism of coagulation
  • This picture refers to the consequences (events/ aftereffect) that occurs after an injury to both normal and haemophilia A patient.
  • Pathophysiology of Hemophilia.
  • Pathophysiology of Hemophilia.
  • This slide explains the treatment of Haemophilia. (you need to learn the name of the procedures).

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