HEMOPHILIA:

http://www.mayoclinic.org/diseases-conditions/hemophilia/basics/definition/con-20029824

http://www.mayoclinic.org/diseases-conditions/hemophilia/basics/symptoms/con-20029824

http://www.mayoclinic.org/diseases-conditions/hemophilia/basics/tests-diagnosis/con-20029824

http://www.mayoclinic.org/diseases-conditions/hemophilia/basics/treatment/con-20029824

http://www.mayoclinic.org/diseases-conditions/hemophilia/basics/causes/con-20029824

http://www.hemophilia.ca/en/bleeding-disorders/hemophilia-a-and-b/the-clotting-problem-in-hemophilia/

http://www.nhlbi.nih.gov/health/health-topics/topics/hemophilia

http://www.wakehealth.edu/Research/WFIRM/Projects/Researching-a-Treatment-for-Hemophilia.htm

https://www.hemophilia.org/Bleeding-Disorders/Future-Therapies

Sources:

the role of genetics:

- Inherited genetic disorder caused by a spontaneous mutation . Hemophilia A or B: the gene is located on the X chromosome from the mother Since boys have only one X chromosome, the disorder manifests in them more often. Girls are more likely to be carriers since they have two X chromosomes . Hemophilia C: can be passed by either parent to children of either sex- Less than 200,000 cases per year are caused by genetics

The latest research breakthroughs:

- Gene Therapy: researchers have engineered stem cells to contain factor IX genes or produce clotting factor VII and then plan to do a stem cell transplant into patients

Definition

Clotting vs. Hemophilia

Types

symptoms

diagnosis

treatment

When we bleed due to injury, blood vessels

constrict to stop the bleeding. Also, platelets

(types of blood cells) stick to surface of vessels

at the site of the injury to form a plug.

Normally, clotting proteins are activated on

platelets to form a fibrin clot. But with

hemophilia, some clotting proteins are

missing, causing an incomplete formation of the fibrin clot.

. A rare disorder in which your blood does

not clot normally due to lack of important

proteins called clotting factors

. Hemophilia A: most common, insufficient

clotting factor VIII

. Hemophilia B: second most common,

insuffient clotting factor IX

. Hemophilia C: mild symptoms, insuffient

clotting factor XI

. Spontaneous, excessive

bleeding after cuts,

vaccinations, or dental work

. Many large or deep bruises

. Unexplained nosebleeds

. Blood in urine or stool

. (For infants) unexplained

irritability

Emergency Symptoms:. Prolonged bleeding from injury

. Painful, prolonged headache

with double vision

. Repeated vomiting

. Extreme fatigue

. Joint or muscle pain,

especially in the neck

. Unusual bleeding usually appears around the age of 2

and is mostly diagnosed between 9 months and 2 years old. During pregnancy, if the family has a history of

hemophilia, it is advised to see a doctor to check

for signs of the disorder in the fetus

There is currently no cure for hemophilia, only treatment to improve quality of life . For Hemophilia A or B: - DDVAP: a hormone desmopressin that stimulates release of more clotting factor

- Infusion of clotting factor donated from human blood

. For Hemophilia C: - Clotting factor XI available only in Europe

- In the US, plasma infusions used to stop bleeding

. For all types: - Antifibrinolytics, a medication that keeps clots from breaking down

- Fibrin sealants promote clotting/healing at sites of injury

- Physical therapy to help joint damage caused by internal bleeding

- First aid: ice pack, pressure, and bandage for most cuts/injurires

- Vaccinations to avoid contracting disease