Imagine you have a minor cut and the bleeding won't stop. This can happen to people with hemophilia. It is an inherited bleeding disorder where the body lacks the ability to form blood clots, a process needed to stop bleeding. This can lead to spontaneous bleeding as well as bleeding after injury or surgery. Small incisions are usually not a big problem. In severe conditions, bleeding that occurs inside the body, especially the knees, ankles, elbows, and brain, can damage your organs and tissues and be life-threatening.
There are several different types of hemophilia. Hemophilia A (classic hemophilia) caused by a deficiency or deficiency of coagulation factor VIII and hemophilia B (Christmas disease) caused by a deficiency or deficiency of coagulation factor IX are the two most common types. Hemophilia A is the most common X-linked genetic disease with a worldwide incidence of approximately 1 case in 5000 males, with approximately one-third of affected individuals having no family history of the disorder. Hemophilia B occurs in approximately 1 in 25,000 male births. It is less common than hemophilia A.
There is currently no cure for this condition, but it can be treated to minimize symptoms and prevent future health complications. Genetic counseling is the main tool for the prevention and control of genetic disorders, targeting families with a birth defect or a family history of the disorder.
What causes hemophilia and who is at risk?
Hemophilia occurs when a clotting factor is missing or the clotting factor levels are low. Most cases of hemophilia are congenital, meaning that a person is born with the condition. Acquired hemophilia can also develop without a personal or family history of hemophilia. However, acquired hemophilia is a rare autoimmune disease.
The biggest risk factor for developing hemophilia is having family members who also suffer from the disorder. Hemophilia mainly affects men.
Signs and symptoms to look out for
The signs and symptoms of hemophilia vary depending on the level of coagulation factors. In mild conditions, the bleeding is mild and may only bleed after surgery or trauma. However, in severe cases, a person may bleed easily for seemingly no reason.
Some of the common signs and symptoms of hemophilia include:
Bleeding into the joints
Bleeding into the skin (which is a bruise) or muscle and soft tissue causing a pooling of blood in the area (called a hematoma)
Bleeding from the mouth and gums and bleeding that is difficult to stop after losing a tooth
Unusual bleeding after vaccination
Bleeding in the head of an infant after a difficult birth.
Blood in the urine or stool
Nosebleeds with no known cause
Delayed bleeding after injury
Although very rare, sometimes a simple blow to the head can cause bleeding in the brain in some people who have severe hemophilia. This is an emergency and you should seek immediate medical attention. Severe headache, repeated vomiting, seizures, feeling lethargic or double vision or sudden excessive sleepiness are some of the symptoms.
Diagnosis:
Haemophilia is usually diagnosed with a blood test. It helps identify the type of hemophilia and its severity. Review of symptoms, personal history, and clinical evaluation are recommended. Because the disorder generally affects males, many people with a family history of hemophilia have their boys tested soon after birth.
Therapy:
Treatment focuses on replacing the missing protein and preventing complications. It involves administering or replacing clotting factors that are too low or missing. This is done by infusion (into a vein) of a commercially prepared concentrated FVIII or FIX product.
In more severe cases, it may be necessary to go to physical therapy for rehabilitation if hemophilia has damaged your joints. And if you have pain associated with this condition, your doctor may prescribe or recommend pain medication to help relieve the pain.
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