Hemophilia

By: Heba Boustany & Manisha Kukkillaya

Definition

Hemophilia is a rare, inherited disorder in which blood does not clot normally because it lacks sufficient blood clotting proteins (clotting factors).

Causes

     In the blood clotting process there are 13 proteins known as clotting factors. When one of these proteins is mutated, it results in hemophilia.

    - Hemophilia A: mutation in factor VII
    - Hemophilia B: mutation in factor IX
    - Hemophilia C: mutation in factor XI

Symptoms

Spontaneous Bleeding
    - unexplained and excessive bleeding from cuts and injuries
   - pain and swelling in your joints
   -  blood in urine or stool
   - many large, deep bruises
   - nosebleeds without a known cause
   - unexplained irritability (infants)

Emergency Symptoms
   - repeated vomiting
   - prolonged headache
   - neck pain
   - extreme fatigue
   - double vision
   - sudden pain, swelling in large joints

Diagnostic Tests

    - If hemophilia is present in your family, then it is likely that you will get it
    - One in every three cases occur outside of a known family history of hemophilia
    - A series of blood tests can identify which part or protein factor of the blood clotting mechanism is defective
    - A platelet test can also be done as well as indexes of prothrombin time (PT) and activated partial thromboplastin time (aPTT)
    - A normal platelet county and normal PT and prolonged aPTT are characteristics of hemophilia A or B

Incidence

- Worldwide: estimated to me +400, 000 people
- Hemophilia A (4x more common than Hemophilia B): 1 in 5000 live births
- United States: estimated +20, 000 individuals

Prevention

Hemophilia is a inherited and genetic disease that cannot be prevented.

Risk Factors/Complications

-Deep Internal Bleeding: can cause limbs to swell and can lead to numbness and pain

- Damage to joints: if left untreated, frequent internal bleeding may cause arthritis or damage of the joints

- Infection: people with hemophilia more likely to have blood transfusions, which leads to an increased risk of using contaminated blood products

- Adverse Reaction to Clotting Factor Treatment: in some instances, immune system negatively reacts to the clotting factors used to treat bleeding; when this occurs, immune system develops proteins that inactivate the clotting factors(therefore, treatment is less effective)

Treatment

1. Replacement Therapy: Clotting factor concentrates can be purified from human donor blood (or made in a laboratory) and can be infused into a vein (like a blood transfusion).
    - this is a treatment that can be administered at home with the proper training and instruction

2.  Desmopressin (DDAVP): mild cases of Hemophilia A can be treated with this drug. DDVAP stimulates release of more clotting factor by the body (through an IV or a nasal spray).

3. To alleviate pain from the symptoms pain relievers such as Tylenol and Advil can be used

Works Cited

Mayo Clinic Staff. "Hemophilia." Mayo Clinic. Mayo Foundation for Medical Education              and Research, 26 Sept. 2014. Web. 10 Feb. 2015.

MedicineNet. "Hemophilia." MedicineNet. N.p., 17 Jan. 2014. Web. 08 Mar. 2015.

National Hemophilia Foundation. "About Bleeding Disorders." Fast Facts. NHF, n.d. Web.        03 Mar. 2015.

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