Hemophilia

Hemophilia, once popularly called as “The Royal Disease,” played the most important role in the history of Europe, for its sudden occurrence in the children of Great Britain’s Queen Victoria. It is believed that Queen Victoria was a carrier of hemophilia. The genes of hemophilia were spread to the royal families of the Europe through Queen Victoria’s descendants. Hemophilia is considered to be a perfect example of genetic diseases that runs across the several generations of a family.

Hemophilia is an inherited disorder that affects your blood clotting factors resulting in excessive bleeding. If you’re diagnosed with hemophilia, you may bleed spontaneously and for longer periods than a healthy person, even with a minor cut on the skin. The condition is very rare but, sometimes it can be fatal. According to the World Federation of Hemophilia (WFH), approximately one in 10,000 people are affected with the disease.

Types of hemophilia

There are three forms of hemophilia that include the following:

Hemophilia A: It is the most common type of hemophilia that is caused by lack of clotting factor VIII. It is estimated that nearly eight out of 10 people with hemophilia suffer from hemophilia A.

Hemophilia B: It is also known as Christmas disease and occurs when the levels of clotting factor IX are deficient.

Hemophilia C: It is the mild form of hemophilia and caused by the deficiency of coagulation factor XI. The individuals with this type of hemophilia may not experience spontaneous bleeding but may occur after a trauma or injury.

Your blood clotting mechanism called as ‘coagulation cascade’ is the process where your blood is converted from liquid to solid. The process also involves several clotting factors. When your blood is deficient of these clotting factors, blood cannot clot properly leading to continuous and severe bleeding.

Hemophilia and genetics: Hemophilia is considered to be an inherited disorder. However, if none of your family members suffered from hemophilia, then it may occur as a result of spontaneous mutation. A mutation or a change in one of the genes that is responsible for the production of clotting factors can lead to hemophilia. These genes are located on the X chromosome. Females have two X chromosomes and males have one X and one Y chromosome.

Each individual inherits two chromosomes each from mother and father. Males inherit one X chromosome from the mother and one Y chromosome from the father. Females inherit one X chromosome from the mother and one X chromosome from the father. If the mother has an altered gene on one X chromosome, then there is 50 percent chance of passing the genes to her children. If the female has an altered gene, then she is considered as a carrier of hemophilia. That means she can pass the disease to her children, but she is not affected by the disease. Because she has another healthy X chromosome that can prevent bleeding risks. If the male has an altered gene that is inherited from the mother, then he will have hemophilia.

The severity of your symptoms depends on the levels of clotting factors. If the deficiency of clotting factor is very mild, then you may experience bleeding only after surgery or an injury. If you have severe deficiency of the clotting factors, you may experience the following symptoms:

  • Unexplained, large bruises
  • Blood in the stool or urine
  • Deep bruises
  • Frequent nosebleeds without any cause
  • Pain, swelling, and tightness in the joints due to bleeding
  • Unexplained irritability in the infants

You should immediately visit your doctor if you have any of the following symptoms.

  • Sudden pain and swelling in the large joints
  • Excessive bleeding from an injury
  • Severe headache
  • Continuous vomiting
  • Neck pain and double vision

The complications of hemophilia include the following:

  • Deep internal bleeding and swelling
  • Damage to the joints due to continuous bleeding
  • Adverse reactions to the clotting factor therapy

If the individuals have the family history of hemophilia, it can be determined during the pregnancy if the fetus is affected by the altered genes of hemophilia.

Your doctor diagnoses the condition through blood tests. A sample of your blood is examined for the levels of clotting factors and interpreted as below:

Severity of hemophilia A and BRange
Normal levels 50% – 150%
Mild hemophilia 5% – 49%
Moderate hemophilia 1%-5%
Severe hemophilia Less than 1%

Hemophilia has no cure. However, the severity of the symptoms can be reduced with certain medications.

  • If you’re diagnosed with mild hemophilia A, then your doctor prescribes a hormone called desmopressin which is injected into your vein. It can stimulate the clotting factors and controls bleeding.
  • If you’re diagnosed with moderate to severe hemophilia A or hemophilia B, your doctor might prescribe an infusion of recombinant clotting factor or the clotting factors obtained from donated human blood.
  • If you have hemophilia C, clotting factor XI is infused. Sometimes, your doctor prescribes plasma infusions to stop bleeding.

Following are certain measures that would help you to avoid excessive bleeding and protect your joints:

  • Exercise regularly.
  • Avoid painkillers such as aspirin and ibuprofen as they can trigger bleeding.
  • Avoid blood-thinning medications such as heparin, warfarin, and clopidogrel.
  • Maintain good oral hygiene to prevent dental extractions that can cause severe bleeding.