Hemophilia is a hereditary disease that disrupts the blood clotting process. The main symptom of hemophilia is bleeding that lasts longer. This disease occurs more often in men.
Hemophilia occurs when the blood lacks proteins that form clotting factors. As a result, the blood of hemophiliacs has difficulty clotting. Although this condition cannot be cured, the sufferer can live a normal life by preventing injuries and having routine check-ups with the doctor.
Causes of Hemophilia
Hemophilia is caused by a genetic mutation that causes the blood to lack clotting factors VIII and IX. The lack of these factors causes the blood to be difficult to clot so that the bleeding is difficult to stop.
The genetic mutation that occurs in hemophilia affects the X chromosome. Abnormalities on the X chromosome are then passed down from the father, mother, or both parents to the child.
Symptomatic hemophilia usually occurs in men. Daughters are more often carriers of abnormal genes that have the potential to be passed on to their descendants.
Symptoms of Hemophilia
The main symptom of hemophilia is blood that is difficult to coagulate, causing the bleeding to be difficult to stop or last longer. In addition, hemophiliacs can experience complaints in the form of:
- Bleeding that is difficult to stop, for example from a nosebleed or scratch
- Bleeding on the gums
- Bleeding that is difficult to stop after surgery, for example after circumcision
- Blood in the urine and stool
- Easy to bruise
- Bleeding in the joints marked by pain and swelling in the elbow and knee joints
The severity of bleeding experienced by hemophiliacs depends on the amount of clotting factors in the blood. If the number of blood clotting factors decreases, the bleeding will be more difficult to stop.
In mild hemophilia, the amount of clotting factor in the blood ranges from 5–50%. Hemophiliacs may not show any symptoms. However, sufferers can experience bleeding that is difficult to stop if the wound is severe enough or they have recently undergone medical procedures, such as surgery and tooth extraction.
Whereas in moderate hemophilia, the amount of clotting factor ranges between 1–5%. In this condition, bleeding from even a small wound will be difficult to stop. Sufferers also tend to bruise more easily.
While in severe hemophilia, the amount of clotting factor is less than 1%. This condition makes sufferers often experience spontaneous bleeding for no apparent reason, such as bleeding gums , nosebleeds, and bleeding or swelling in joints or muscles.
When should you go to the doctor?
Seek medical help immediately if you experience bruising or bleeding that is difficult to stop. Early examination is necessary to find out the exact cause of the complaints experienced and prevent the recurrence of bleeding.
Treatment at IGD should be done immediately when experiencing spontaneous bleeding from the gums and nose, or when the bleeding does not stop and is accompanied by other complaints, such as severe headache, vomiting, stiff neck, or paralysis in part or all of the facial muscles.
A person who has a family history of hemophilia is recommended to have a routine checkup with a doctor. This is to find out if you have a genetic abnormality that causes hemophilia or as a carrier .
If you have been diagnosed with hemophilia, make routine checkups with your doctor to monitor your condition and prevent complications.
Diagnosis of Hemophilia
The doctor will ask questions about the patient's complaints, the health history of the patient and his family, accompanied by a comprehensive physical examination. During the physical examination, the doctor will check for bruises and signs of bleeding in other parts of the body, such as gums and joints.
To confirm the diagnosis, the doctor will perform supporting examinations, such as:
Blood test
The blood test aims to know the complete blood cell count. Although it does not affect red blood cells directly, bleeding due to hemophilia can cause a person to experience a lack of red blood cells and hemoglobin ( anemia ).
Blood tests are also performed to detect the function and work of blood clotting factors through examination of PT ( prothrombin time ), APTT ( activated partial thromboplastin time ), and fibrinogen . This test can also determine the severity of hemophilia, by measuring the amount of factors VII and IX.
Genetic testing
Genetic testing is done to detect genetic abnormalities that cause hemophilia, especially in people with a family history of hemophilia. This test can also find out if someone is a carrier of hemophilia.
For pregnant women who have a family history of hemophilia, it is recommended to do a genetic test during pregnancy. Genetic testing in pregnant women can determine the risk of the fetus suffering from hemophilia. Examinations 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 done in the 11th to 14th week of pregnancy.
- Amniocentesis , which is a test to check a sample of amniotic fluid. This test is done in the 15th to 20th week of pregnancy.
Hemophilia Treatment
Treatment of hemophilia aims to prevent bleeding (prophylaxis) and deal with bleeding (on-demand). Here is the explanation:
Prevention (prophylaxis) of bleeding
Prophylactic treatment to prevent bleeding is done by giving injections of blood clotting factors according to the type of hemophilia suffered.
Octocog alfa injections are given every 48 hours in hemophilia A patients to control the amount of clotting factor VIII. While nonacog alfa injections are given twice a week to hemophilia B patients who lack coagulation factor IX.
Alpha octogog injection may cause side effects in the form of itching, skin rash, as well as pain and redness in the injected area. While nonacog alfa injections can cause side effects of nausea, swelling in the injected area, dizziness, and discomfort.
The administration of the injection is done for life. Patients also need routine check-ups with the doctor according to the specified schedule.
Stoppage of bleeding
In mild to moderate hemophilia, handling will be done when bleeding occurs. In order to stop the bleeding, the doctor will give the same type of medicine as the medicine to prevent bleeding.
To stop bleeding in cases of hemophilia A, the doctor will give an injection of octocog alfa or desmopressin . While in the case of hemophilia B, the doctor will give an injection of nonacog alfa .
Patients who receive the injection should check the level of inhibitors regularly, because blood clotting factor drugs can sometimes trigger the formation of antibodies. As a result, the medicine becomes less effective after some time.
Complications of Hemophilia
If the bleeding continues, hemophilia can cause hypovolemic shock , which is organ failure due to the loss of a lot of blood. In addition, other complications that can occur when experiencing hemophilia are bleeding in the muscles, joints, gastrointestinal tract, and other organs.
Prevention of Hemophilia
Hemophilia is a genetic disorder that cannot be prevented. The best way to do it is to do an early examination if you experience bleeding without a definite cause. Genetic testing also needs to be done to find out the risk of pregnant women passing on hemophilia to the fetus.
If you suffer from hemophilia, there are several measures that can prevent cuts and injuries, namely:
- Avoid activities that risk causing injury
- Use protection, such as a helmet, knee protectors, and elbow protectors, if you have to do risky activities
- Check yourself with a doctor routinely to monitor the condition of hemophilia and the level of clotting factors you have
- Do not take drugs that can affect the blood clotting process, such as aspirin , without a doctor's prescription
- Maintaining hygiene and dental and oral health, including routine check-ups at the dentist