Hemophilia is a genetic disorder of the blood caused by a deficiency of blood clotting factors (Factor VIII or Factor IX). Hemophilia patients have difficulty in blood clotting so that bleeding takes longer than normal people or in severe cases spontaneous bleeding (without injury). This can be prevented if it gets the right treatment.
Hemophilia can occur in all groups, races, ethnicities, or socioeconomics. Hemophilia occurs in about 1:10000 males. Generally, those who suffer from hemophilia are men, because this disease is inherited through the X chromosome, while women are only carriers of the trait.
- Hemophilia A: deficiency of Factor VIII
- Hemophilia B: Factor IX deficiency
The main symptom of hemophilia is bleeding that is difficult to stop. Bleeding can be external (outside the body) or internal (bleeding inside the body). The most common bleeding is internal bleeding in the joints and muscles, especially the knee joints and thigh muscles.
Based on the degree of severity, hemophilia is divided into:
1. Mild hemophilia
- FVIII/FIX levels 5% - 40%.
- Bleeding is rare.
- May bleed if there is severe trauma or the patient undergoes major surgery.
- If the patient has never experienced major trauma or major surgery, he or she may not know that he or she has mild hemophilia.
2. Moderate hemophilia
- FVIII/FIX levels 1% - 5%.
- Bleeding if there is minor trauma or minor surgery such as tooth extraction, circumcision, and others.
- Spontaneous bleeding may occur, although this is rare.
3. Severe hemophilia
- FVIII/FIX levels are less than 1% (<1%).
- Frequent spontaneous bleeding.
- Even if you experience minor trauma or minor surgery, it can be fatal.
Signs and symptoms
Symptoms of hemophilia vary depending on the amount of clotting factors you have and the location of the bleeding.
External bleeding is easily visible. Children are more likely to experience external bleeding such as cuts in the knees, exposed to scissors, bitten tongue or missing teeth.
Internal bleeding is difficult to identify if there are no known signs. These include bruising (especially bruising that is accompanied by swelling), redness of sites especially muscles or joints (such as the knee). Children with hemophilia can usually report internal bleeding. Sometimes they say there is a "bubble" at the site of bleeding, for example in a joint. The site of bleeding usually provides a sensation of pain, stiffness and warmth.
Babies with hemophilia can't say what they're feeling, but can give signs. When they start to crawl, parents should be reminded of the increased occurrence of sores on the abdomen, chest, buttocks and back. Signs of internal bleeding include:
- Red or tea-colored urine (hematuria)
- Black or bloody stools (melena)
- Vomiting with blood (hematemesis)
- After head trauma, headache, vomiting, weakness and convulsions occur
Knee joint bleeding
Bleeding under the skin (hematoma)
Diagnosis
If there is no family history of hemophilia, hemophilia is usually diagnosed from the symptoms that arise. Some infants with severe hemophilia are diagnosed with hemophilia in the first 6 months of life because they are prone to trauma that can cause bleeding.
In older, active children, doctors suspect hemophilia if the child is prone to bruising, bleeding profusely at the time of the trauma, or swelling with joint pain that occurs for no apparent reason.
In patients suspected of having hemophilia, laboratory tests are carried out in the form of screening tests for blood clotting which include platelet count, bleeding time, clotting time, PT, and APTT. Hemophilia patients have abnormalities in the APTT, where the APTT is longer than normal (normally 30-35 seconds). After finding a prolonged APTT, factor VIII levels were checked. If there is a deficiency, the patient is diagnosed as hemophilia (depending on the level, it can be mild, moderate, or severe). If the FVIII level is normal, the FIX level is checked. If there is a deficiency, it is diagnosed as hemophilia B.
Hemophilia treatment
Treatment of hemophiliacs requires adequate administration of Factor VIII or Factor IX, for life and periodically so that they can achieve a normal life expectancy and live like a normal person. However, hemophilia can be managed properly if it is known how to handle if there is bleeding and routine treatment by replacing the missing clotting factors.
Handling hemophilia is grouped into two, namely to prevent bleeding (prophylaxis) and treatment when bleeding occurs (on-demand). To prevent bleeding, patients are usually given injections of Factor VIII (for hemophilia A) or Factor IX (for hemophilia B) in certain doses regularly 2-3 times per week. If bleeding can be prevented, complications of permanent damage can be avoided.
For treatment in the event of bleeding, given Factor VIII or IX as soon as possible with a dose according to the location and severity of bleeding. The more severe and the longer the bleeding is controlled, the more Factor VIII or IX needed. And if the bleeding is more frequent and the longer it is treated, permanent damage to the bleeding joint can occur. In addition, blood clotting factor levels that are left low increase the risk of severe bleeding in the event of minor trauma or even life-threatening brain hemorrhage. Therefore, the optimal management is to prevent bleeding and if there is bleeding, it should be treated immediately.
Home care
Patients usually recognize the early signs of bleeding. Stopping bleeding at this stage causes less damage and less Factor VIII or IX is needed. Treatment measures that can be done at home to reduce pain when there is active bleeding in the joints are as follows:
RICE (Rest, Immobilization, Compression, Elevation)
1. rest
- Rest the joint in a comfortable position.
- Usually in a flexed position (the joint is slightly bent)
2. Immobilization
- To prevent excessive bleeding, the affected joint should not be moved.
- If bleeding is in the elbow joint, you can use a sling (arm support), if bleeding is in the knee joint or in the leg muscles, you can use crutches (cane) or a wheelchair.
3. Compression
- The affected joint is compressed using ice.
- Use immediately, continued for at least the first 12 hours.
4. Elevation
- The affected joint is elevated so that it is higher than the heart.
- Detained by using pillows/other tools.
Analgesics or pain relievers that are safe for hemophilia patients are paracetamol or mefenamic acid. Aspirin should not be given, because it will further interfere with the blood clotting process. Administration of Desmopressin (DDAVP) can increase factor VIII levels quite high in mild to moderate hemophilia A.
External bleeding treatment
In some children with hemophilia, sores can occur every day and can be treated with simple first aid measures. The most important thing is how we provide good treatment (by giving clotting factor medication).
In superficial wounds:
- Wash the wound with clean running water
- Clean all the stuck clots
- Dry with sterile gauze
- Close the wound
If the bleeding does not stop then treatment with clotting factors is needed
Prevention of bleeding in hemophilia patients
Parents of children with hemophilia can prevent the occurrence of hemophilia with the following healthy habits:
- Exercise regularly. Swimming is a good sport for children with hemophilia, because this sport can move all the muscles without putting heavy pressure on the joints.
- Maintain weight. Weight gain can lead to an increased risk of bleeding.
- Dental hygiene. Make sure children brush their teeth twice a day and have regular check-ups with the dentist.
- Avoid activities that involve physical contact, such as martial arts, football, or sports that have a high risk of accidents, such as motorcycle or car racing, rock climbing, and others.
When to visit the doctor
Some bleeding requires special attention. Call your doctor if:
- Signs and symptoms of joint bleeding
- Bruises all over the body
- Fever occurs because it is a sign of infection
- Trauma to the head, neck, stomach, or back
- Bleeding that can't be stopped
- Stomach pain that won't go away
- Urine that is red or like the
- Black or bloody stools
- Headache accompanied by vomiting and loss of consciousness
