Hemophilia

What is Hemophilia?

This disorder is characterized by uncontrolled bleeding and the inability of the blood to clot properly. Even a small cut or a minor injury can result in severe bleeding. Haemophilia is one among the many X-linked recessive inherited genetic disorders, where the gene causing the disorder or dysfunction is located on the X-chromosome.

It results in massive internal bleeding (known as haemorrhaging) in the joints such as the knees, elbows, ankles, and also in tissues and muscles. This can lead to considerable consequences, such as swelling and pain in the affected areas. It can even cause permanent damage to the affected body parts. When bleeding happens in a vital organ, especially in the brain, it has the potential to turn fatal.

Types of Hemophilia

Haemophilia exists in two forms:

1. Hemophilia A: It is caused specifically by a mutation in the Factor VIII gene on the X chromosome.
2. Hemophilia B: This is caused by a mutation in the Factor IX gene on the X chromosome.

Hemophilia Prevention

Since haemophilia is a hereditary condition, it cannot be prevented, but it can be diagnosed and help the mother understand the risks of having a baby with haemophilia. The female members of the family are the only carriers of this syndrome. If there is a history of haemophilia in a family, it is better to consult a physician and have a blood test to examine the clotting factors and 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 is a 50% chance that her son will have haemophilia A or B and a 50% chance that her daughter will be a carrier of this gene.

Symptoms of Hemophilia

The signs and symptoms of haemophilia vary based on the levels of clotting factors present. These clotting factors are substances in the blood that affect the process of 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:

1. Many large or deep bruises.
2. Joint pain and swelling (caused by bleeding)
3. Unexplained bruises or bleeding.
4. Blood in urine or in stools.
5. More bleeding for a normal cut or injury.
6. Nosebleeds for no apparent reason.
7. Excessive bleeding in tooth gums.
8. Unusual bleeding after vaccinations.

Further Reading