Located on Chromosome #: 23
· excessive bleeding and easy bruising
· Nosebleeds for no obvious reason
· Heavy bleeding from a minor cut
· Bleeding from a cut that resumes after stopping for a short time
· internal bleeding
· Bleeding in the brain
· Long-lasting, painful headaches or neck pain or stiffness
· Repeated vomiting
· Sleepiness or changes in behavior
· Sudden weakness or clumsiness or problems walking
· Double vision
· Convulsions or seizures
When it can be diagnosed: People are likely to have a physical exam and blood tests to diagnose hemophilia. If hemophilia is suspected, or if they appear to have a bleeding problem, their doctor will take their personal and family medical histories. This will reveal if they or anyone in their family has a history of frequent/heavy bleeding and/or bruising. Kids who have severe hemophilia are diagnosed within their first year of life. People who have milder forms of hemophilia might not get diagnosed until they're adults. Woman who are known carriers can have their kid diagnosed before the kid is born.
Groups at risk: It's most common in Ashkenazi and Iraqi Jews. It equally affects males and females, and people of any age groups.
Treatments: Blood clotting medicines or replacement therapy. Desmopressin, a hormone used to treat people who have moderate hemophilia A.
Cures: There's no cure until Gene therapy is perfected.
Autosomal or Sex-linked: Sex-Linked
Dominant or Recessive: Not completely recessive. When a hemophilia carrier female is pregnant, there is a 50/50 chance that the gene will be passed on. If the X gene is passed on to a son, he will have the disease. If the gene is passed on to a daughter, she will be a carrier. If the father has hemophilia but the mother does not carry the hemophilia gene, then none of the sons will have hemophilia disease, but all of the daughters will.
Additional information: With careful management, informed decisions, and recognition of complications, many kids with hemophilia live healthy lives and a good lifespan. Early treatment is important to prevent/limit damage to joints, muscles, or other parts of the body.