Hemophilia Genetic Disorder Project
Jolie Janson Period 5
Brief Summary of Hemophilia
Statistics & Public Figures
- Hemophilia affects 1 in 5,000 male births, meaning 400 babies are born with hemophilia each year.
- In 2/3 U.S. cases, there is a family history of hemophilia
- 20,000 individuals in the U.S. are living with this disorder.
Alexandrea Borestein who is an actor, comedian, and film writer who is known for the voice of Lois Griffin on Family Guy and The Lizzy McGuire Movie is a carrier of hemophilia and a public spokesperson for the disease.
Barry Haarde, who was the first person to bike across America for a race dedicated to hemophilia, has severe hemophilia A and a 30 year survivor of HIV and Hepatitis C. He contracted Hepatitis C through blood products used to treat his Hemophilia.
Queen Victoria (Queen of United Kingdom in 1837) was a carrier for Hemophilia B. Her family passed the hemophilia gene onto various royal families in countries such as Spain, Germany, and Russia. This is the reason why Hemophilia is called the "Royal Disease."
Below is a graph that represents the frequency of Hemophilia A and B in a population.
Symptoms of Hemophilia
- unexplained and excessive bleeding from cuts and injuries
- many large and deep bruises
- unusual bleeding after vaccinations
- pain or swelling in your joints
- blood in urine or stool
- nose bleeds with unknown cause
- sudden pain, swelling, and warmth in joints
- excessive bleeding from an injury
- painful; prolonged headache
- repeated vomiting
- extreme fatigue
- neck pain
- double vision
Proteins Affiliated with Hemophilia
These two coagulation factors are proteins that work together in the blood clotting progress. These proteins help the blood clots protect the body by sealing off damaged blood vessels and preventing excessive blood loss. Without these proteins, blood will not clot correctly leading to continuous bleeding that can be difficult to control.
Type of Mutation and Inheritance
Hemophilia A and hemophilia B are inherited in an X-linked recessive pattern, which means that the genes are located on the X chromosome and is recessive.
Diagnosis/Treatment & Ethical Implications
Most of the ethical issues occurring for hemophilic care include the lack of global access to care and the access to advanced technologies. Hemophilic care is not given the priority that it deserves in most developing countries. Although, care for hemophiliac patients has improved in the last 50 years. For example, more expensive treatments and the replacement of joints have become more available. The World Health Organization and the World Federation of Hemophilia are working together to solve the ethical issues of hemophiliac patients.
"Data & Statistics." Centers for Disease Control and Prevention. Centers for Disease Control and Prevention, 08 July 2015. Web. 20 Mar. 2016.
"National Hemophilia Foundation." Fast Facts. N.p., n.d. Web. 20 Mar. 2016.
"Famous People with Hemophilia." The Missing Factor. N.p., n.d. Web. 20 Mar. 2016.
"Hemophilia." Symptoms. N.p., n.d. Web. 20 Mar. 2016.
Mutation and Inheritance
"Biology and Normal Function of Factor VIII and Factor IX." Biology and Normal Function of Factor VIII and Factor IX. N.p., n.d. Web. 20 Mar. 2016.
"Result Filters." National Center for Biotechnology Information. U.S. National Library of Medicine, n.d. Web. 20 Mar. 2016.