Notes

## Slide 1: Introduction
- **Title**: Hemophilia: A Genetic Bleeding Disorder
- **Symptoms**:
- Prolonged bleeding
- Spontaneous bleeding
- Joint pain and swelling
- Blood in urine and stool
- Large bruises
- **Commonality**: Affects about 1 in 5,000 male births worldwide

## Slide 2: Gene Affected
- **Hemophilia A**: F8 gene on the X chromosome (Xq28)
- **Hemophilia B**: F9 gene on the X chromosome (Xq27.1-q27.2)
- Focus on Hemophilia A (F8 gene)

## Slide 3: Inheritance
- **Pattern**: X-linked recessive
- Males are more commonly affected
- Females are usually carriers
- **Image**: Punnett square showing inheritance pattern

## Slide 4: Genetic Mutation and Protein Function
- **Mutation**: Various mutations in F8 gene (e.g., inversion, deletion, point mutation)
- **Affected protein**: Factor VIII (FVIII)
- **Normal function**: Essential for blood clotting; works together with Factor IX
- **Effect of mutation**: Reduced or absent FVIII; impaired blood clotting

## Slide 5: Phenotype
- **Hemophilia A severity**:
- Mild: 5-40% of normal FVIII levels
- Moderate: 1-5% of normal FVIII levels
- Severe: <1% of normal FVIII levels
- **Symptoms**: Prolonged bleeding, spontaneous bleeding, joint pain and swelling, blood in urine and stool, large bruises

## Slide 6: Connection to Class
- **Hemophilia A**: X-linked recessive inheritance
- **Incomplete penetrance**: Some carriers may show mild symptoms
- **Expressivity**: Severity of symptoms can vary among individuals with the same mutation

## Slide 7: Relation to Evolution
- **Allele frequency**: Rare; no evidence of positive selection
- **Possible explanations**:
- Genetic drift
- Founder effect in specific populations
- Balancing selection: Heterozygote advantage in certain scenarios (e.g., protection against blood loss in injuries)

## Slide 8: Sources
1. National Hemophilia Foundation. (n.d.). What is Hemophilia? Retrieved from https://www.hemophilia.org/About-Us/Fast-Facts
2. Genetics Home Reference. (2021). Hemophilia. Retrieved from https://medlineplus.gov/genetics/condition/hemophilia/
3. Online Mendelian Inheritance in Man. (2021). HEMOPHILIA A; HEMA. Retrieved from https://omim.org/entry/306700
4. Soucie, J. M., Evatt, B., & Jackson, D. (1998). Occurrence of hemophilia in the United States. American journal of hematology, 59(4), 288-294.

Note: Remember to add relevant images and diagrams to support the content of each slide.