Hemophilia is an inherited genetic disorder that is most prevalent among men and causes an inability to form blood clots. This results in prolonged or unstoppable bleeding [external and internal], and in severe cases can be spontaneous. Hemophilia can be detected from a very early age and be treated accordingly. Less severe cases, however, may go unnoticed until a major injury or dental surgery. There are two common forms of hemophilia; hemophilia B [classic hemophilia] and hemophilia B [the Christmas disease]. They both have similar symptoms but the result of different gene mutations.
Prolonged bleeding or bruising of a scrape or cut
Resumed bleeding of a semi-healed cut
Blood in urine [internal bleeding in kidneys or bladder] or stool [intestines or stomach]
Bleeding in joints without obvious injury
- Feeling of tightness but no pain
- Hot to touch
- Becomes painful
- Reduced or no movement
Brain bleed, even after a minor bump
- long-lasting and painful headaches
- Neck stiffness
- Repeated vomiting
- Change of behavior
- Sudden weakness
- Clumsiness, problems walking
- Double vision
- Convulsions and seizures
Hemophilia A is the most common form and occurs in about 1 in 4000-5000 births.
Hemophilia B Is less common than A and occurs in about 1 in 20,000 births
A rare form is called hemophilia C and occurs in about 1 in 100,000 affecting both males and females
Acquired hemophilia makes up about 25% of all cases and is the result of spontaneous mutations.
The problems in the body that result in hemophilia are mutations in the F8 and F9 genes. F8 is a gene that provides instruction for the creation of a clotting protein called coagulation factor VIII. F9 is a gene that produces a similar clotting protein called coagulation factor IX. The severity of the condition will depend on how much the production of these proteins is affected.
Hemophilia A and B are both inherited in an X-linked recessive pattern, which means that the mutated genes are part of the X chromosome. Since hemophilia is a recessive gene and males only have one X chromosome; that single faulty X chromosome will become apparent. Whereas women, having 2 X chromosomes, would need two similarly faulty genes in order for the disease to become apparent, otherwise the other X chromosome simply override the recessive hemophilia gene. A woman who is carrying a single hemophilia gene it is called a carrier, and will experience little or no effects of the disease. The female is statistically more likely to pass on the gene because a male only passes on the X chromosome if the child is a female.