What is hemophilia?
Hemophilia is an X-linked recessive inherited genetic disorder, which exists in two forms – hemophilia A and hemophilia B. Hemophilia A is caused specifically by a mutation in the Factor VIII gene on the X chromosome, whereas hemophilia B is caused by a mutation in the Factor IX gene on the X chromosome.
The major risk of hemophilia is the internal bleeding or hemorrhaging that is bleeding in joints like knees, elbows, and ankles, or in the tissues and muscles. This can be a real problem which leads to swelling and pain in the affected area, and can even cause permanent damage to the affected body parts. When bleeding happens in a vital organ, especially in the brain, it can cause danger to the person’s life.
How to prevent hemophilia?
Since hemophilia is a hereditary condition, it cannot be prevented; but this can be diagnosed and help the mother understand the risk of having a baby with hemophilia.
The female members of the family are the only carriers of this syndrome. If there is a history of hemophilia in a family, it is better to consult a physician and have a blood test to examine the clotting factors and to perform a molecular genetic test to examine the carriers in their genes. As per the studies conducted on this inherited genetic disorder, the genes from the mother can be transmitted to both her children. Among them, there are 50% chances that her son will have hemophilia A or B and 50% chances that her daughter will be a carrier of this gene.
Symptoms of hemophilia
The signs and symptoms of hemophilia vary, depending on a patient’s level in blood coagulation.
- If the clotting factors are slightly reduced, then the bleeding is observed only after the surgeries.
- If the clotting factors are completely reduced, then spontaneous bleeding is observed.
Symptoms of spontaneous bleeding include:
- Many large or deep bruises.
- Joint pain and swelling (caused by bleeding)
- Unexplained bruises or bleeding.
- Blood in urine or in stools.
- More bleeding for a normal cut or injury.
- Nosebleeds for no apparent reason.
- Excessive bleeding in tooth gums.
- Unusual bleeding after vaccinations.
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