Hemophilia is a term used to refer to a group of inherited bleeding disorders that cause poor blood clotting and result in exaggerated or abnormal bleeding. It is important to know the symptoms and treatment methods of hemophilia to manage it, and it is equally important to understand its causes.
Hemophilia includes two conditions, namely, hemophilia A and hemophilia B, which are different because of a specific gene that undergoes mutation. Hemophilia C is rare, but it is known to have a milder impact than hemophilia A or B. Both are inherited medical conditions that are passed on through an altered X chromosome. A man who gets a defective X chromosome will develop hemophilia but cannot pass it on to his son. However, a woman who gets an altered X chromosome has a 50 percent risk of passing it on, regardless of the gender of her child.
Common symptoms and treatment of hemophilia
The severity of the symptoms depends on how severe the factor deficiency is. So, people having only a mild deficiency will bleed when they experience trauma, but people with a severe deficiency may bleed even without any cause. This condition is called “spontaneous bleeding,” and this may lead to any or all of the following:
- Blood in urine
- Blood in stool
- Large and unexplained bruises
- Deep bruises
- Bleeding gums
- Joint pain
- Excessive bleeding
- Tightness in joints
- Frequent nosebleeds
- Irritability in kids with the condition
Signs that need medical intervention
The following symptoms indicate a possible medical emergency and require immediate medical attention:
- Repeated vomiting
- Severe headache
- Neck pain
- Extreme sleepiness
- Double or blurred vision
- Continuous bleeding at the site of an injury
It is possible to treat hemophilia with a prescription hormone called desmopressin, which are administered as injections into the vein. The medicine works by stimulating the factors that help in the process of blood clotting.
Hemophilia B can be treated with donor clotting factors. These are sometimes given in the synthetic form and are then called “recombinant clotting factors.”
Hemophilia C, which is rare, can be treated with plasma infusion that works to prevent profuse bleeding.
Also, physical therapy can help in the rehabilitating of the joints that could have been damaged because of the condition.
The effects of the condition
Proteins work in unison with platelets to prevent bleeding when there is an injury. Having said that, there is a deficiency of factor VIII or IX in people with hemophilia, so they bleed longer or are prone to experience internal bleeding. If this bleeding occurs in the brain, it can lead to life-threatening consequences. In the case of hemophilia C, bleeding occurs after surgery or trauma instead of spontaneously.
Prevention of hemophilia
Preventing hemophilia is an issue as it is inherited by a child from their mother. When a woman is pregnant, there is no way to know whether the baby has hemophilia, but in the case of in-vitro fertilization, the eggs can be tested for this illness. In such situations, only the eggs without hemophilia are implanted.