Hemophilia as a Genetic Disorder

Hemophilia is a bleeding disorder in which the blood doesn’t clot correctly, because “a person lacks or has low levels of certain proteins called clotting factors.” (Kahn, April 1.) It is a rare disease and has “Fewer than 200,000 US cases per year.” It is usually inherited by a family member, and can last for years or can be a lifelong disease.

There is no known cure for Hemophilia but it is said that treatment can help. The typical gender that is affected by this disorder are males, but females can be too. The usual ages diagnosed with Hemophilia are from birth to the age of 40, and less commonly ages 41 through ages 60+. There are a few causes of this disorder. It can be caused by low factor levels, not having enough clotting factors, is inherited, or “caused by a genetic change (spontaneous mutation).” (Mayo Clinic Staff 2.)

The inheritance patterns of Hemophilia are: If the mother is a carrier there is a 50% chance that each of her sons will have hemophilia and a 50% chance that every one of her daughters will be carriers of Hemophilia. If the father has the Hemophilia gene all daughters will be carriers and none of his sons with have the gene. But if the father has hemophilia and the mother is a carrier then there is a 50% chance that each of their sons & daughters will have hemophilia or a 50% chance the daughters will be carriers of the gene. If it is caused by a genetic change, “the mother is not a carrier of hemophilia and the child affected is the first in the family to have hemophilia and to carry the defective factor gene.” (Hemophilia Federation of America 3.)

The life expectancy for Hemophilia can depend on whether that person is getting the proper treatment to treat the disease or if they are getting any treatment at all. It also depends on the level of severity of the disease. “Many patients still die before adulthood due to inadequate treatment. With proper treatment, life expectancy is only about 10 years less than healthy men.Overall, the death rate for people with hemophilia is about twice that of the rate for healthy men. For severe hemophilia, the rate is four to six times higher. In most cases, the hemophilia mortality rate depends on whether a person has other diseases.” (Naqvi, Erum 4)

The symptoms of Hemophilia are: excessive bleeding, bruising easily, non stop bleeding for a long period of time (before forming a proper clot, and the amount of bleeding depends on how severe the gene is), uncontrollable bleeding from a small wound or cut, nosebleeds, blood in urine or stool. Symptoms of bleeding in the brain include: major headaches, neck pain and stiffness, behavioural changes, vision problems, convulsions or seizures, fatigue, weakness in arms and legs, and repeated vomiting.

Treatment for Hemophilia include, clotting factor therapy, missing clotting factor injections, desmopressin (a hormone injection/nasal spray use to treat mild bleeds), gene therapy, and factor concentrates. There are more but these are just a few, and there are some still in the works being perfected. Each treatment varies on the severity of the disorder.