HEMOPHILIA BOR

Christmas Disease By: Marios and Sofia Vafiadis

Definition of Hemophilia

Hemophilia comes from the Greek word meaning αίμα “blood” and philia φιλία “love”. It is also called the “Christmas Disease” and affects the whole body by not letting the Factor IX function properly.

Difference between A & B

● Hemophilia type A is much more common● Different clotting factors are involved in the two distinct disease types.● Hemophilia A: malfunction of factor VIII (more

common)● Hemophilia B: malfunction of factor IX (less common)

Several clues that you have Hemophilia

● Blood in the urine● Large and deep bruises● Unexplained extreme bleeding● Constant nose bleeding● Pain in the joints

Healthy Knee The bleed starts to enter the joint. The joint swells.

What exactly happens to the body?

Usually when you bleed your blood cells join together, clot to heal the wound.

Hemophilia will prevent the process of clotting blood cells.�

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When the person walks he/she would get bruises, mouth bleeding, joint and muscle bleeding.

Is it a mutation? A genetic tendency triggered by other factors?

Yes, it is a permanent mutation on many different genes. It is inherited on the X chromosome, but can also be developed, in women, after pregnancy.

What happens in the body to cause Hemophilia?

Women are carrier of hemophilia but rarely to get it, because it is a sex-linked recessive disorder carried on the X chromosome. That means, that it is usually received before birth.

How is the disorder diagnosed?

Hemophilia is tested with blood samples. Doctors also need to know if your family ever experienced a case of hemophilia.

Genetic Counseling● Parents often times visit professional genetic

counselors if it has been proven that their child will be a victim of hemophilia.

● The counselors usually discuss how this will affect the child’slife and of course, their own lives.

How common is it?

Hemophilia B occurs in 1 in 20,000 males worldwide.*

* Females are very unlikely to receive it therefore only male statistics and listed

How is the disorder treated?

● The most common therapy is called “Replacement Therapy”.

● That means that the blood clotting factors are replaced in the body, factors VIII and IX are injected into the blood. It is used on both Hemophilia type A & B.

How is the disease inherited?As already mentioned, it is sex-linked, meaning it only exists on the X chromosome. Men are more likely to have it than women since they only have 1 X chromosome. It is very rare for a women to receive it since she usually is a carrier.

Famous People who had Hemophilia

Abraham Lincoln

Mother Teresa

Genghis Khan

Bibliographyhttp://www.wfh.org/en/page.aspx?pid=644

"ABOUT BLEEDING DISORDERS." WFH World Federation Of Hemophilia. N.p., May 2012. Web. 7 June 2015. <http://www.wfh.org/en/page.aspx?pid=644>.

http://www.hemophilia.ca/en/bleeding-disorders/hemophilia-a-and-b/the-treatment-of-hemophilia/factor-replacement-therapy/

"Factor Replacement Therapy." Canadian Hemophilia Society. N.p., n.d. Web. 7 June 2015. <http://www.hemophilia.ca/en/bleeding-disorders/hemophilia-a-and-b/the-treatment-of-hemophilia/factor-replacement-therapy/>

http://ghr.nlm.nih.gov/condition/hemophilia

"Hemophilia." Genetics Home Reference. HONcode, Aug. 2012. Web. 7 June 2015. <http://ghr.nlm.nih.gov/condition/hemophilia>.

http://www.differencebetween.com/difference-between-hemophilia-a-and-vs-b/

Admin. "Difference Between Hemophilia A and B." Difference Between. N.p., 14 Dec. 2012. Web. 7 June 2015. <http://www.differencebetween.com/difference-between-hemophilia-a-and-vs-b/>.

https://www.hemophilia.org/Bleeding-Disorders/Types-of-Bleeding-Disorders/Hemophilia-B

"Hemophilia B." National Hemophilia Foundation for All Bleeding Disorders. N.p., n.d. Web. 7 June 2015. <https://www.hemophilia.org/Bleeding-Disorders/Types-of-Bleeding-Disorders/Hemophilia-B>.

http://www.ncbi.nlm.nih.gov/pubmed/10215953

"Counselling about Diagnosis and Inheritance of Genetic Bleeding Disorders: Haemophilia A and B." Publmed. N.p., n.d. Web. 7 June 2015. <http://www.ncbi.nlm.nih.gov/pubmed/10215953>.

Thank You!!