Podcast
Questions and Answers
Which of the following is often called 'the disease of kings'?
Which of the following is often called 'the disease of kings'?
Hemophilia B is caused by a deficiency in clotting factor VIII.
Hemophilia B is caused by a deficiency in clotting factor VIII.
False
What is the inheritance pattern of Hemophilia A?
What is the inheritance pattern of Hemophilia A?
X linked recessive
What is the primary deficiency associated with Hemophilia C?
What is the primary deficiency associated with Hemophilia C?
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Queen Victoria of England was a carrier of _____.
Queen Victoria of England was a carrier of _____.
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What percent of cases with Hemophilia A is due to mutations of the clotting factor gene?
What percent of cases with Hemophilia A is due to mutations of the clotting factor gene?
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Severe hemophilia is defined by a clotting factor activity level of 50%.
Severe hemophilia is defined by a clotting factor activity level of 50%.
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What is the primary clotting factor deficiency associated with Hemophilia B?
What is the primary clotting factor deficiency associated with Hemophilia B?
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Which inheritance pattern is associated with Hemophilia A?
Which inheritance pattern is associated with Hemophilia A?
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Which type of hemophilia is classified as an autosomal recessive disorder?
Which type of hemophilia is classified as an autosomal recessive disorder?
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What factor is deficient in individuals with Parahemophilia?
What factor is deficient in individuals with Parahemophilia?
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What percentage of Hemophilia A cases are associated with new mutations, despite having no family history?
What percentage of Hemophilia A cases are associated with new mutations, despite having no family history?
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Who was famously known as a carrier of Hemophilia?
Who was famously known as a carrier of Hemophilia?
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What characterizes severe hemophilia?
What characterizes severe hemophilia?
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Study Notes
Hemophilia Overview
- Known as 'the disease of kings,' historically linked to European royal families.
- Queen Victoria of England was a notable carrier of hemophilia.
Types of Hemophilia
-
Hemophilia A:
- Factor Deficiency: VIII
- Inheritance: X-linked recessive
-
Hemophilia B:
- Factor Deficiency: IX
- Inheritance: X-linked recessive
-
Hemophilia C:
- Factor Deficiency: XI
- Inheritance: Autosomal recessive
-
Parahemophilia:
- Factor Deficiency: V
- Inheritance: Autosomal recessive
Genetic Factors
- Hemophilia A (deficiency of FVIII) accounts for 80-85% of cases.
- Hemophilia B (deficiency of FIX) results from mutations in clotting factor genes.
- Family history of bleeding is common; primarily affects males inherited through the maternal line.
- Approximately 1/3 of cases arise from new mutations with no prior family history.
Severity Assessment
- Severity is determined by the level of clotting factor activity in the bloodstream.
- Severe hemophilia is characterized by less than 50% of normal clotting factor activity.
Hemophilia Overview
- Known as 'the disease of kings,' historically linked to European royal families.
- Queen Victoria of England was a notable carrier of hemophilia.
Types of Hemophilia
-
Hemophilia A:
- Factor Deficiency: VIII
- Inheritance: X-linked recessive
-
Hemophilia B:
- Factor Deficiency: IX
- Inheritance: X-linked recessive
-
Hemophilia C:
- Factor Deficiency: XI
- Inheritance: Autosomal recessive
-
Parahemophilia:
- Factor Deficiency: V
- Inheritance: Autosomal recessive
Genetic Factors
- Hemophilia A (deficiency of FVIII) accounts for 80-85% of cases.
- Hemophilia B (deficiency of FIX) results from mutations in clotting factor genes.
- Family history of bleeding is common; primarily affects males inherited through the maternal line.
- Approximately 1/3 of cases arise from new mutations with no prior family history.
Severity Assessment
- Severity is determined by the level of clotting factor activity in the bloodstream.
- Severe hemophilia is characterized by less than 50% of normal clotting factor activity.
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Description
Explore the intricacies of hemophilia, often referred to as 'the disease of kings.' This quiz covers the different types of hemophilia, their genetic factors, and how severity is assessed based on clotting factor activity. Test your knowledge on this historically significant condition.
