Hemophilia is a blood condition. People with hemophilia lack the proper proteins to cause blood-clotting. Hemophiliacs suffer from more blood loss than the average person because their wounds do not scab over as quickly. Cuts that are non-alarming for people with the usual blood-clotting proteins can be life threatening to those suffering from hemophilia. Hemophilia is a genetic disorder. It is caused by a sex-linked recessive gene. Because the gene is found on the X chromosome, females are typically carriers of the disease, while males are more likely to suffer from hemophilia itself. As of today, there is not a cure for hemophilia. In the past, hemophilia meant a drastically shortened life. Today, people suffering from hemophilia have a typical quality of life and generally live about ten years less than the average lifespan.
Symptoms of hemophilia are associated with the blood’s inability to clot. These may include extreme bruising, large amounts of blood associated with small wounds such as vaccinations, frequent nosebleeds, and more.
- Excessive or spontaneous bleeding
- Large, unexplained bruising
- Blood in urine or stool
- Joint pain
- Irritability in infants
- Bleeding from an injury
- Extreme headache and joint pain
- Neck pain
- Altered vision
Hemophilia is a genetic disorder. There are three different versions of hemophilia. Each version is caused by different genetic phenomena.
- Defective genes on the X chromosome causes hemophilia A and B
- Because males only inherit one X chromosome, they are more likely to have hemophilia
- Females have two X chromosomes, increasing the likelihood that one of them will have the correct gene
- If females have one correct gene and one defective, they will carry the gene but will not have hemophilia
- Defective gene on chromosome four causes hemophilia C
- This type of hemophilia affect each sex equally, but is much less common
It is possible to test for hemophilia during pregnancy. The test may be risky for the fetus. Hemophilia is typically diagnosed by the age of nine months with the use of a blood test.
- Genetic testing during pregnancy
- Blood test
There is no known cure for hemophilia. There are researchers working on gene therapy to help hemophiliacs produce blood-clotting proteins on their own, but it has not yet been perfected. However, with the proper care and treatment, sufferers may have a healthy and long life. This care includes artificial blood clotters, vaccinations against other blood-borne diseases, and regular first aid. It is also recommended that those suffering from hemophilia do not play active sports.
- DDAVP infusions (clotting factor)
- Hepatitis vaccinations
- Aggressive first aid
- Physical therapy in case of internal bleeding