Hemophilia

HemophiliaHadeeth Zaidi

Period 6

What it does/Causes- The disease (only present in males) lowers the level of blood

plasma clotting factors which are needed for coagulation- Coagulation is the process by which blood forms clots. Damaged blood

cell is covered by a platelet and fibrin (protein) containing clot to stop the bleeding.

- All three types of Hemophilia are hereditary genetic disorders - Hemophilia A- recessive X linked genetic disorder which involves

lack of functional clotting known as Factor VII, most common type

- Hemophilia B- recessive X linked genetic disorder involves lack of functional clotting known as Factor IX, less common

- Hemophilia C is an autosomal (not on the sex chromosome) genetic disorder caused by lack of a proper functioning Factor XI

History• Dr. John Conrad Otto in 1803 was the first to take note of

the disease and noticed that it only afflicted males in families, he was able to trace the disease back to a woman who came from Plymouth

• Patek and Taylor (doctors from Harvard) discovered the anti-hemophilic globulin in 1937

• Pavlosky, doctor from Buenos Aires, discovered hemophilia A and B as separate diseases by doing a lab test.

• Most famous known case of Hemophilia has been present in European royalty- passed down by Queen Victoria

Occurrence

- It can be passed down to future generations- Only males show symptoms because the

disease is recessive (only hemophilia C is not recessive) and X linked. Because females have two X chromosomes the disease does not affect them.

- Females often carry the disease (example: Queen Victoria)

Type-Hemophilia is a chromosomal mutation occurring on the X chromosome

Effects

• Effects are different if the severity of the disease is different

• Some people have more “bleeds” than others depending on severity, internal bleeding is also common.

• Large bruises usually form and swelling from bleeding in the joints

Diagnoses

- Hemophilia is diagnosed after a series of blood tests on a sample of the patient’s blood- Platelet Count- tests the number of blood platelets

and if there is a lower amount- Activated Partial Thromboplastin Test- Tests to see

how long a platelet takes to form, hemophiliac patients take longer

- Factor Essay- Test to see which type of hemophilia the patient has

Treatment

• No known cure • Can be controlled with fusions in the deficient

clotting factor • Many patients undergo factor replacement

which involves injecting factor concentrates into the patient

Works Cited

• https://www.caremark.com/wps/portal/HEALTH_RESOURCES?topic=hemophiliadiagnosis

• http://www.hemophilia.org/NHFWeb/MainPgs/MainNHF.aspx?menuid=0&contentid=1

• http://www.nlm.nih.gov/medlineplus/hemophilia.html

• http://www.mayoclinic.com/health/hemophilia/DS00218/DSECTION=treatments-and-drugs