Hemophilia is coagulation disorders due to deficiency of factors VII and IX. When you have hemophilia, bleeding will last longer. This condition is a hereditary disease that is more common in men.
Hemophilia is caused by a genetic mutation. The genetic mutation that occurs in hemophilia causes the blood to lack a protein that forms clotting factors. Lack of this clotting factor will cause the blood to clot difficult.
Hemophilia cannot be cured. However, hemophiliacs can live a normal life by preventing injuries and having regular check-ups with the doctor.
Symptoms of Hemophilia
The main symptom of hemophilia is that it is difficult for blood to clot, causing bleeding to be difficult to stop or to last longer. Some of the symptoms and signs that will appear in people with hemophilia are:
- Bleeding in the nose (nosebleeds) that is difficult to stop
- Bleeding in wounds that are difficult to stop
- Bleeding in the gums
- Bleeding after circumcision (circumcision) that is difficult to stop
- Blood in the urine and feces (feces)
- Easy bruising
- Bleeding in the joints characterized by pain and swelling in the elbow and knee joints
The severity of bleeding depends on the amount of clotting factors in the blood. The less the number of clotting factors in the blood, the more difficult the bleeding will be to stop.
In mild hemophilia, the amount of clotting factors in the blood ranges from 5–50%. People with hemophilia may not show any symptoms. In mild hemophilia, bleeding will be difficult to stop if the wound is severe enough or after undergoing medical procedures, such as surgery and tooth extraction.
In moderate hemophilia, the amount of clotting factors ranges from 1–5%. In this condition the bleeding caused by a small wound will be difficult to stop. In addition, the sufferer will be more prone to bruising.
In severe hemophilia, the clotting factor count is less than 1%. Patients usually often experience spontaneous bleeding for no apparent reason, such as bleeding gums, nosebleeds, or bleeding and swelling in the joints and muscles.
When to go to the doctor
Check with your doctor if you experience easy bruising or bleeding that is difficult to stop. Early detection is needed to determine the exact cause of the complaints you feel and to prevent recurrent bleeding.
Go to the emergency room immediately if you experience spontaneous bleeding in the gums and nose, persistent bleeding, and other complaints, such as severe headache, vomiting, stiff neck, and paralysis of part or all of the facial muscles.
If you have a family history of hemophilia before, it is advisable to have regular check-ups with your doctor. This is to find out if you have a genetic disorder that causes hemophilia or are carriers (carrier). Carrier or carrier usually do not show any symptoms but have the potential to pass hemophilia to their offspring.
If you have been diagnosed with hemophilia, have regular check-ups with your doctor to monitor the condition and prevent complications.
Causes of Hemophilia
Hemophilia is caused by a genetic mutation that causes the blood to lack clotting factors VII and IX. Deficiency of this factor will make it difficult for blood to clot and make bleeding difficult to stop.
Genetic mutations that occur in hemophilia affect the X chromosome. Abnormalities on the X chromosome are then passed on by the father, mother, or both parents to the child. Symptomatic hemophilia usually occurs in males. Girls are more likely to be carriers (carrier) abnormal genes that have the potential to be passed on to their offspring.
Diagnosis of Hemophilia
To diagnose hemophilia, the doctor will ask questions about the symptoms and complaints experienced by the patient, as well as the medical history of the patient and his family. After that, the doctor will perform a thorough physical examination, including looking for bruising and signs of bleeding in other parts of the body, such as the gums and joints.
To confirm the diagnosis of hemophilia, the doctor will ask the patient to perform additional examinations, such as:
blood test
Blood tests are performed to determine the complete blood cell count. Although hemophilia does not affect red blood cells directly, prolonged bleeding will usually cause a person to experience a deficiency of red blood cells and hemoglobin (anemia).
Blood tests are also carried out to detect the function and work of blood clotting factors through the PT (PT) examination.prothrombin time), APTT (activated partial thromboplastin time), and fibrinogen. In addition, the doctor will perform an examination to determine the number and levels of factors VII and IX to determine the severity of hemophilia.
Genetic test
If there is a history of hemophilia in the family, genetic testing may be done to detect the presence of a genetic disorder that causes hemophilia. This test is also carried out to find out whether a person is a carrier or a carrier carrier hemophilia.
During pregnancy, pregnant women who have a history of hemophilia in their family are recommended to do a genetic test to determine the risk of hemophilia in children. Tests that can be done during pregnancy include:
- Chronionic villus sampling (CVS), which is taking a sample from the placenta to see if the fetus has hemophilia. This test is usually done between the 11th and 14th weeks of pregnancy.
- amniocentesis, namely the test of amniotic fluid samples carried out at the 15th to the 20th week of pregnancy.
TreatmentHemophilia
Hemophilia cannot be cured, but hemophilia can be treated by preventing bleeding (prophylaxis) and managing bleeding (on demand). Here is the explanation:
Prevention (prophylaxis) of bleeding
Severe hemophilia requires prophylactic treatment to prevent bleeding. The patient will be given an injection of blood clotting factors. The injections given are different, depending on the type of hemophilia you have.
The injections given to people with hemophilia A are: octocog alpha designed to control the amount of clotting factor VIII (8). This injection is recommended every 48 hours. Side effects that may arise include itching, skin rash, and pain and redness at the injection site.
Meanwhile, patients with hemophilia B who have a deficiency of clotting factor IX (9) will receive an injection nonacog alpha. Injection of this drug is usually done 2 times a week. Side effects that may arise include nausea, swelling at the injection site, dizziness, and discomfort.
This injection will be given for life and the patient is required to control according to the schedule given by the doctor.
Bleeding cessation
For mild to moderate hemophilia, treatment will be carried out when bleeding occurs. The goal of treatment is to stop the bleeding. Drugs given when bleeding occurs are almost the same as drugs given to prevent bleeding.
To stop bleeding in cases of hemophilia A, the doctor will give an injection octocog alpha or desmopressin. As for the case of hemophilia B, the doctor will give an injection nonacog alpha.
Patients receiving these injections should have their inhibitor levels checked regularly, because blood clotting factor drugs can sometimes trigger the formation of antibodies, making the drug less effective after a while.
Hemophilia Complications
If bleeding continues, hemophilia can lead to hypovolemic shock, which is organ failure due to excessive blood loss.
In addition, other complications that can occur when experiencing hemophilia are bleeding in muscles, joints, gastrointestinal tract, and other organs.
Prevention hemophilia
Hemophilia is a genetic disorder and cannot be prevented. The best way that can be done is to do an early examination if bleeding occurs and genetic counseling to determine the risk of the child having hemophilia.
If you have hemophilia, take steps to prevent the following cuts and injuries from occurring:
- Avoid activities that pose a risk of injury and use protection such as helmets, knee pads and seat belts.
- Perform regular check-ups with the doctor to monitor the condition of hemophilia and the level of clotting factors that the patient has.
- Be careful when taking drugs that can affect the blood clotting process, such as aspirin.
- Keep your teeth and mouth clean and healthy, including regular check-ups with the dentist.