Hemophilia is a bleeding disorder caused by a blood clotting factor deficiency. The disorder can be mild, moderate or severe, depending on the level of the clotting factor. You can find more information below.
What is hemophilia?
Hemophilia is a bleeding disorder that slows the process called clotting to stop blood flowing. People with this bleeding disorder often experience a longer recovery period after an injury or surgery. Severely affected individuals may experience momentary bleeding in the joints and muscles. Hemophilia is more common in men than women.
The two most common types of hemophilia are hemophilia A ( also known as classical hemophilia ) and hemophilia B ( also known as Christmas disease ). People with hemophilia A have a low blood clotting factor called factor 8 . People with hemophilia B have a low blood clotting factor called factor 9 .
Both types of this bleeding disorder are caused by permanent gene changes (mutations) in different genes. Mutations in the factor 8 gene cause hemophilia A. Mutations in the factor 9 gene cause hemophilia B. The proteins made by these genes have an important role in the blood clotting process. Mutations in both genes prevent clots from forming when there is an injury and cause a lot of bleeding that is difficult to stop.
What is the incidence?
Hemophilia type A is the most common type of this disease. One in 5,000 to 10,000 men worldwide has type A of the disease. Type B of the disease is less common and affects between 1 in 20,000 and 34,500 men worldwide.
Causes of hemophilia
People with this bleeding disorder do not have a clotting factor in their blood that will help them clot. The cause is an error in the gene of the affected coagulation factor.
Is hemophilia inherited?
This bleeding disorder is inherited in an X-linked recessive pattern. The gene mutation that causes the disease is considered X-linked when it is located on the X chromosome, one of the two sex chromosomes. In males with only one X chromosome, one altered copy of the gene in each cell is sufficient to cause the disease.
Because women have two X chromosomes, a mutation must be present in both copies of the gene for hemophilia to occur. Men are more often affected by X-linked recessive disorders than women. An important feature of X-linked inheritance is that fathers cannot pass on X-linked traits to their sons. A carrier woman has a 50 percent chance of passing on hemophilia A or B to her children.
Symptoms of hemophilia
Symptoms of this bleeding disorder include prolonged bleeding after injury, tooth extraction or surgery, bleeding that recurs after the initial bleeding has stopped, and easy bruising of the body in addition to such bleeding.
In both severe hemophilia A and severe hemophilia B, the most common symptom is sudden joint bleeding. Other sites of serious bleeding include the intestines and soft tissues. This type of bleeding can cause blood in the urine or stool , stroke, sudden severe pain in the joints or limbs. Painful bleeding in the soft tissues of the arms and legs can lead to nerve damage.
Individuals with severe hemophilia are usually diagnosed in the first year of life. People with moderate hemophilia usually do not bleed spontaneously, but have longer bleeding and oozing of bleeding after minor injuries. Those with moderate hemophilia are usually diagnosed before they reach five or six years.
Sudden bleeding does not occur in individuals with mild hemophilia. If left untreated, they may experience prolonged bleeding when they have surgery, teething or major injuries. Individuals with mild hemophilia may not be diagnosed until later in life.
When should you see a doctor?
If you think you have the symptoms of a bleeding disorder and a relative has the same disease, it is a good idea to see a doctor.
Diagnosis of hemophilia
Both types of this bleeding disorder are diagnosed by measuring factor clotting activity. Individuals with hemophilia A have low factor 8 coagulation activity. Individuals with hemophilia B have low factor 9 coagulation activity.
Genetic testing is also available for the factor 8 gene and factor 9 gene. Genetic testing of the factor 8 gene finds a disease-causing mutation in 98 percent of individuals with hemophilia A. Genetic testing of the factor 9 gene finds disease-causing mutations in more than 99 percent of individuals with hemophilia B.
Genetic testing is often used to identify women who are carriers of a factor 8 or factor 9 gene mutation and to diagnose hemophilia in a fetus during pregnancy (prenatal diagnosis). It is also sometimes used to diagnose individuals with mild symptoms of hemophilia A or B.
Currently, there is no cure to definitively cure this bleeding disorder. Other treatments depend on the severity of the hemophilia.
Treatment may include slow injection of a medicine called desmopressin (DDAVP) into one of the veins by the doctor. DDAVP helps release more clotting factors to stop bleeding. Sometimes, DDAVP is also given as a nasal spray (nasal spray). However, this drug is not used in hemophilia type B or severe hemophilia type A and has a short-term effect.
To stop bleeding in moderately or severely affected persons; There may be a need for an infusion of clotting factors from non-self-generating, genetically engineered products called recombinant clotting factors. If the bleeding potential is serious, the doctor may give clotting factor infusions to prevent bleeding. Repeated infusions may be required in cases of persistent bleeding. (Infusion is the process of injecting drugs that stop bleeding into the vascular access with the help of a needle or catheter.)
When bleeding damages joints, physical therapy is used to help them function better. Physical therapy helps the joints move and prevents the joints from freezing or becoming badly deformed. Sometimes bleeding in the joints can seriously damage the joints and cause irreversible problems. In this case, an artificial joint can be attached to the person by surgical operation.
When a person suffering from this bleeding disorder has a minor cut or bleeding, the application of pressure and the use of bandages can help care for the wound. An ice pack can be used when there are small areas of bleeding under the skin.
Researchers are working to develop a gene replacement therapy (gene therapy) for Hemophilia A, and gene therapy research is currently ongoing. Given that the findings are promising, gene therapies are considered to be a long-term solution for the disease. The hope is that in the future there will be a genetic treatment for this disease.
Individuals with hemophilia A and B live longer and better quality lives compared to 30 years ago. This is because of factor 8 concentrate, home infusion programs, preventive (prophylactic) treatment and advanced patient education.
Daily life in patients with hemophilia
Bleeding disorders were formerly associated with severe limitations affecting daily life. However, today, treatment with clotting factors allows for anything that does not put too much strain on the joints or is not associated with excessive risk of injury. Even sports with a lot of physical contact, mountain biking and skiing or crafts are possible. The determining factor here is how pronounced the bleeding tendency is and how well the person can adapt to the treatment in case of possible bleeding.
People with hemophilia want to live as normally as possible and spend their free time as actively as others. Physical activity is fun, strengthens muscles, increases flexibility, trains body awareness and sense of balance. Regular exercise and sports can therefore protect against hemorrhagic injuries. If you are unsure of which activities are appropriate, it is best to discuss this with your doctor.
Despite treatment, living with hemophilia still poses challenges and requires some fine adjustments in daily life. For example, injecting yourself with the drug requires practice, which can take time. However, especially children with severe bleeding disorders learn early on how to cope with their illness over time and can know what to do even in case of acute bleeding.