Questions and Answers
What is Hemophilia A?
What is the genetic cause of Hemophilia A?
An inherited X-linked recessive trait.
Most people with Hemophilia A are female.
False
What are some symptoms of Hemophilia A?
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The main symptom of Hemophilia A is __________.
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What tests are used to diagnose Hemophilia A?
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What treatments are available for Hemophilia A?
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Desmopressin (DDAVP) can be used to treat mild cases of Hemophilia A.
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Study Notes
Hemophilia A Overview
- Hemophilia A is a hereditary bleeding disorder caused by a deficiency in blood clotting factor VIII.
- Insufficient factor VIII leads to improper coagulation and inability to control bleeding.
Causes
- It is an inherited X-linked recessive trait, with the defective gene located on the X chromosome.
- Males are predominantly affected due to having only one X chromosome; a defective gene on it results in hemophilia A.
- Females can be carriers with one defective gene and can pass it to offspring.
- Risk factors include a family history of bleeding disorders and male gender.
Symptoms
- Symptoms vary in severity, with bleeding being the primary indicator.
- Initial symptoms often manifest during infancy, especially during circumcision.
- Internal bleeding can occur unpredictably, with other symptoms including:
- Joint bleeding causing pain and swelling
- Hematuria (blood in urine) or hematochezia (blood in stool)
- Bruising, nosebleeds, and prolonged bleeding from injuries or surgeries.
- Spontaneous bleeding may also occur.
Tests
- Coagulation studies are necessary for diagnosing suspected bleeding disorders.
- Key tests for hemophilia A include:
- Prothrombin time
- Bleeding time
- Fibrinogen levels
- Partial thromboplastin time (PTT)
- Serum factor VIII activity
Treatment
- Treatment involves replacing the missing factor VIII, often through factor IX concentrates, dosed according to individual needs.
- Mild cases may use desmopressin (DDAVP) to stimulate release of stored factor VIII.
- Preventive treatment is crucial for severe cases, especially before surgeries or dental work.
- Patients are advised to receive the hepatitis B vaccine due to increased risk associated with blood products.
- Management may be necessary for those who develop inhibitors to factor VIII, potentially using factor VIIa for clotting.
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Description
This quiz provides a comprehensive overview of Hemophilia A, a hereditary bleeding disorder. You will learn about its causes, symptoms, and how it affects individuals. Understand the genetic factors and inheritance patterns that contribute to this condition.
