BIOL 101 - Hemophilia by

What is it?

bzee1 — 2023-02-28 05:21:25 UTC

Hemophilia is a bleeding disorder that slows blood clotting, leading to:

- excessive bleeding from cuts and injuries, or surgery and dental work
- blood in urine or stool
- sudden nosebleeds
- pain, swelling, or tightness in joints

For severe hemophilia, bleeding in the brain can occur if bumped on the head, which can cause:

- seizures
- paralysis

Serious cases also include bleeding in internal organs, joints, or muscles.

Causes

bzee1 — 2023-03-01 06:49:34 UTC

Mutations in gene located on X chromosome that provides instructions for making clotting/coagulation factor proteins responsible for forming blood clots.

We have 13 different clotting factors/proteins in our bodies responsible for forming blood clots by working together. This means that multiple types of hemophilia can occur:

Hemophilia A

bzee1 — 2023-03-01 06:54:51 UTC

Caused by abnormal F8 gene creating either low factor VIII levels or none at all. Depending on how much factor VIII a person has, symptoms range from mild (5% - 40%) to severe (<1%).

Hemophilia B

bzee1 — 2023-03-01 06:56:37 UTC

Caused by abnormal F9 gene, creating low factor IX levels or none at all. Depending on factor IX levels, symptoms range from mild (6 - 49%) to severe (<1%). Hemophilia B is still serious but may be less serious than Hemophilia A. Compared to Hemophilia A, people with Hemophilia B have less bleeding in joints, fewer spontaneous bleeding, and are less likely to develop issues with antibodies.

- formerly known as Christmas disease

Diagnosis

bzee1 — 2023-03-01 07:05:04 UTC

Before birth, babies can be tested using:

- Amniocentesis: removing cells from (amniotic) fluid that surrounds the baby in the womb

-Chorionic Villus Sampling (CVS): taking tissue samples from the placenta

Clotting factor tests can also be done, and can determine the severity of the disorder. These tests measure your blood's ability to clot and how long it takes

Sources

bzee1 — 2023-03-01 07:19:09 UTC

- “Current Treatments.” National Hemophilia Foundation, https://www.hemophilia.org/bleeding-disorders-a-z/treatment/current-treatments.
- “Researching a Treatment for Hemophilia.” Wake Forest University School of Medicine, https://school.wakehealth.edu/research/institutes-and-centers/wake-forest-institute-for-regenerative-medicine/research/cell-and-gene-therapy-research/researching-a-treatment-for-hemophilia#:~:text=People%20with%20hemophilia%20A%2C%20the%20most%20common%20type%2C,that%20they%20produce%20high%20levels%20of%20factor%20VIII.
- “Researching a Treatment for Hemophilia.” Wake Forest University School of Medicine, https://school.wakehealth.edu/research/institutes-and-centers/wake-forest-institute-for-regenerative-medicine/research/cell-and-gene-therapy-research/researching-a-treatment-for-hemophilia#:~:text=People%20with%20hemophilia%20A%2C%20the%20most%20common%20type%2C,that%20they%20produce%20high%20levels%20of%20factor%20VIII.
- “What Is Hemophilia?” Cleveland Clinic, https://my.clevelandclinic.org/health/diseases/14083-hemophilia#:~:text=What%20is%20the%20outlook%20for%20people%20with%20hemophilia%3F,especially%20for%20those%20who%20are%20considered%20high%20responders.
- "Hemophilia." Mayo Clinic, https://www.mayoclinic.org/diseases-conditions/hemophilia/symptoms-causes/syc-20373327
- "Diagnosing Hemophilia in Children." NYU Lagone Health, https://nyulangone.org/conditions/hemophilia-in-children/diagnosis#:~:text=Prenatal%20Genetic%20Tests,close%20relative%20with%20the%20condition.
- "Hemophilia." Medline Plus, https://medlineplus.gov/genetics/condition/hemophilia/
- "Coagulation Tests." healthline, https://www.healthline.com/health/coagulation-tests
- "What is Hemophilia?" Centers for Disease Control and Prevention, https://www.cdc.gov/ncbddd/hemophilia/facts.html

Populations Affected

bzee1 — 2023-03-01 07:21:05 UTC

- Hemophilia A: Affects 12 in 100,000 people in the US
- Hemophilia B: Affects 4 in 100,000 men in the US, hard to estimate # of women affected since it's hard to differentiate between hemophilia and heavy period or postpartum bleeding
- Hemophilia C: Affects 1 in 100,000 men or women

- Prevalence highest in Midwestern & Northeastern states
- 4 in 10 males have severe form of the disorder
- Average age of people affected is 23.5 years
- Affects white and Hispanic people more than black or Asian

Research Status

bzee1 — 2023-03-01 07:22:27 UTC

There is no cure for Hemophilia due to the protein needed for clotting. The most common Hemophilia is type A is missing clotting factor 8. The solution is to engineer mesenchymal stem cells, which is a adult stem cell that can produce high levels of factor, allowing the cells to act as a carrier for the gene.

Support Groups

bzee1 — 2023-03-01 07:22:37 UTC

The National Hemophilia Foundation

It offers resource, education information on all blood related disorders.

Training is offered for individuals who want to be leaders in their community to be able to build a strong community for those who are also affected by such disorder.

Providing outreach for individuals who either are undiagnosed or are unable to find help.

Financial assistance is also key for anyone who is suffereing from such diseases and is offered through this support group.

Inheritance

bzee1 — 2023-03-03 01:07:46 UTC

Besides genes mutating, individuals usually inherit the disorder since the genes responsible for hemophilia are located on the X chromosome. Depending on which parent has the defective gene on the X chromosome, it can be passed down to either only their daughters or to sons and/or daughters

Long-term outlook

bzee1 — 2023-03-03 01:28:34 UTC

The life expectancy is about 10 years less than the average human life span. Chilren who are diagnosed and receive treatment early in life have a normal life expectancy.

The individual will require medical attention for the rest of their life and should avoid activities that can cause internal bleeding or scratches that will require blood to clot. Also the normal over the counter drugs such as Ibuprofen, naproxen and aspirin prevent blood clotting.

Being that maintaing a healthy life style to sustain maximum overall health, the individual should consult with their doctor when it comes to physical training. Managing stress is also recommended and good dental hygiene.

Hemophilia C

bzee1 — 2023-03-03 01:46:41 UTC

Caused by abnormal F11 gene creating low factor XI levels or none at all. Compared to A and B, Hemophilia C has less severe symptoms. People with Hemophilia C may experience prolonged bleeding after surgery, but not spontaneous bleeding, as well as no bleeding in joints.

Treatments

bzee1 — 2023-03-07 23:54:55 UTC

There are various treatment options for the genetic disease
Factor replacement therapies
Standard Half-life therapy, extended half-life therapy, and bypass agents

Factor replacement treatments are when the individual is injected through a vein treatment that contains molecules that are similar to the human body's production of blood clotting.

Non-factors therapy is when the individual is injected with a medication that helps prevent bleeding and assist with clotting.

Different treatments are used to treat Hemophilia A, B, and C
Replacement therapy is used for A and B

Gene therapy is also an option for patients. Its main purpose is to provide people with the correct gene to combat the disease. However, because every individual's body is different it produces a different outcome.