Hemophilia Genetic Disorder Project

Jolie Janson Period 5

Brief Summary of Hemophilia

Hemophilia is a rare, inherited disorder that results from a missing or deficient protein needed for blood clotting, meaning a bruise or a simple cut can potentially make the person bleed to death. There are two main forms of this disorder: Hemophilia A and Hemophilia B. Hemophilia A is about four times as common as Hemophilia B.

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.

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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
Emergent Symptoms
  • 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

People with hemophilia have low levels of either factor VIII (8) or factor IX (9). The severity of hemophilia that a person has is determined by the amount of factor in the blood. The lower the amount of the factor, the more likely it is that bleeding will occur which can lead to serious health problems.

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

Changes in the F8 gene are responsible for hemophilia A, while mutations in the F9 gene cause hemophilia B. The F8 gene provides instructions for making a protein called coagulation factor VIII. A related protein called coagulation factor IX is produced from the F9 gene.

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.

Pedigree Analysis

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Diagnosis/Treatment & Ethical Implications

The diagnosis includes screening tests and clotting factor tests. Screening tests are blood tests that show if the blood clots properly. Clotting factor tests, also known as factor assays, are required to diagnose any bleeding disorder which shows the type of hemophilia and the severity.

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.

Bibliography

Statistics

"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.

Public Figures

"Famous People with Hemophilia." The Missing Factor. N.p., n.d. Web. 20 Mar. 2016.

Symptoms

"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.

Ethical Implications

"Result Filters." National Center for Biotechnology Information. U.S. National Library of Medicine, n.d. Web. 20 Mar. 2016.