HemophiliaBrian Blanchard

Birk Nielsen

Hemophilia Birk Nielsen

Brian Blanchard

About HemophiliaHemophilia is a recessive sex-linked, X-chromosome disorder that, because it’s on the X chromosome, is more prevalent in males than females. For a male to inherit it, the genotypes could be: XX X¹Y, XX¹ XY, XX¹ X¹Y, X¹X¹ XY, X¹X¹ X¹Y (X¹ means X chromosome with hemophilia gene)

Statistics 1 in 4,000 to 1 in 5,000 males worldwide are born with this disorder. Hemophilia B occurs in approximately 1 in 20,000 newborn males worldwide.

Chance of inheritingX Y

X¹ XX¹ X¹YX XX¹ XY

X¹ YX XX¹ XYX XX¹ XY

X¹ YX¹ X¹X

¹X¹Y

X XX¹ XY

25%

50%

0%

Chance of Inheriting cont.X¹ Y

X¹ XX¹ X¹YX¹ XX¹ X¹Y

X YX¹ XX¹ X¹YX¹ XX¹ X¹Y

50% 100%

Diagnosis Severe hemophilia can be detected

within the first year of life and often in the newborn period in males that are circumcised and have excessive bleeding after the procedure. Milder forms of the condition may not be detected until the time of surgery or a major injury.

Symptoms People with this condition experience prolonged

bleeding or oozing following an injury, surgery, or having a tooth pulled. In severe cases of hemophilia, heavy bleeding occurs after minor trauma or even in the absence of injury (spontaneous bleeding). Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. Milder forms of hemophilia do not involve spontaneous bleeding, and the condition may not become apparent until abnormal bleeding occurs following surgery or a serious injury.

Life Expectancy The life expectancy of someone with

hemophilia varies depending on whether they receive proper treatment. Without adequate treatment, many people with hemophilia die before they reach adulthood. However, with proper treatment, life expectancy for people with hemophilia is about 10 years less than that of males without hemophilia, and children can look forward to a normal life expectancy.

Treatments Hemophilia is treated by

replacing the missing clotting factor in the blood. This is done by injecting a product that contains the needed factor into a vein. Bleeding stops when enough clotting factor reaches the bleeding site.

Future Research There is no cure for hemophilia yet but

gene therapy remains an exciting possibility and holds out the prospect of a partial or complete cure for hemophilia. Also they are trying Recombinant factor VIII - genetically engineered to avoid risks of disease transmission by infusion.

Recombinant factor IX Gene Therapy

Everyday Life Everyday life for a hemophiliac is

similar to a healthy person’s, they just have to be somewhat cautious of avoiding things that would make them bleed. The quality of life for hemophiliacs is not lowered that much, extra precautions just have to be made. If they get regular platelet transfusions, then the quality of life isn’t affected at all.

Everyday Life cont. Hemophiliacs should avoid activities

that put them near sharp objects that might cut them. However, if they are being treated then they don’t have to worry about the activities they partake in.

Help Lines http://geneticalliance.org/

http://ghr.nlm.nih.gov/Resources/patients

Future Cure It is extremely possible that a cure will be found in the near future. It is most likely going to be found with the gene therapy