Hemophilia
Hemophilia is a disease that causes bleeding disorders due to lack of blood clotting factors. As a result, bleeding lasts longer when the body is injured.
Under normal circumstances, proteins that play a role in blood clotting form a protective tissue around platelets (blood cells), which allows them to clot blood and stop bleeding. In patients with hemophilia, protein deficiency, blood clotting factors, causing prolonged bleeding.
Hemophilia is a congenital abnormality that is often felt by men. This disease can be inherited because of genetic mutations that cause changes in DNA strands (chromosomes), so the processes in the body do not run normally. This gene mutation can originate from father, mother or both parents. There are many types of hemophilia, but the most common types are hemophilia A and B. The severity of people with hemophilia depends on the number of clotting factors in the blood. The less the factor of blood clotting, the more severe the hemophilia. Although there is no drug that can cure hemophilia, sufferers can live normally by manipulating symptoms and avoiding all conditions that cause bleeding.
Symptoms of hemophilia
The main symptom of hemophilia is bleeding that is difficult to stop or last longer, such as bleeding from the nose (nosebleeds), muscles, gums or joints. The severity of bleeding depends on the number of clotting factors in the blood.
In mild hemophilia, the amount of coagulation factors varies from 5 to 50%. Symptoms in the form of prolonged bleeding only occur when the patient has an injury or post-medical procedure, such as surgery.
In moderate hemophilia, the amount of coagulation factors varies from 1 to 5%. Symptoms that may appear include:
The last type of hemophilia is severe hemophilia with a number of coagulation factors of less than 1%. Patients usually experience spontaneous bleeding, such as bleeding gums, nosebleeds, or joint and muscle bleeding, for no apparent reason. Symptoms of bleeding that must be known is bleeding inside the skull (intracranial bleeding). These symptoms are characterized by severe headaches, vomiting, stiff neck, paralysis of some or all of the facial muscles and double vision. Hemophilia patients with intracranial hemorrhage need emergency treatment.
Causes of hemophilia
The process of blood clotting requires elements in the blood, such as platelets and plasma blood proteins.
In the case of hemophilia, there is a genetic mutation that results in the absence of certain clotting factors in the blood. The cause of hemophilia A is a gene mutation that occurs in coagulation factor VI. Hemophilia B is caused by a mutation in the blood factor IX (9).
Genetic mutations in hemophilia A and B occur on the X chromosome and can be inherited from father, mother or both parents. Most women can carry this abnormal gene and send it to their children without feeling the symptoms of hemophilia themselves. Men with this abnormal gene tend to have hemophilia. On the other hand, this gene mutation can also occur spontaneously in people with hemophilia who have no family history of hemophilia.
Diagnosis of hemophilia
If there is no family history of hemophilia, this condition is usually diagnosed from visible symptoms. Children are usually suspected of having an illness when they start crawling or walking, with bleeding skin or joints. Others are detected when they enter adulthood while undergoing dental care or other procedures.
If there is a family history of hemophilia, the doctor will recommend an initial examination to determine the risk of hemophilia in children. Examinations include:
Hemophilia treatment is divided into two, namely treatment to prevent bleeding (prophylaxis) and treatment for bleeding (on request).
To prevent bleeding, patients are usually given a blood clotting factor injection. Injections given to hemophilia A patients are alpha octocogs that are designed to control coagulation factor VIII (8). Injection is recommended every 48 hours. Possible side effects include itching, rashes, and pain and redness in the injected area. Meanwhile, patients with hemophilia B with deficiency of coagulation factor IX (9) will receive nonacog alpha injections. These injections are usually done twice a week. Possible side effects include nausea, swelling of the area, dizziness and discomfort. Injections to prevent bleeding are usually given for life and changes in the patient's condition will continue to be monitored through routine programs.
The second goal of treatment is to stop the prolonged bleeding. In this case, the drugs given at the time of bleeding are almost identical to those used to prevent bleeding. To stop bleeding in the case of hemophilia A, your doctor will give you an injection of alpha octocog or desmepressin. For hemophilia B, the doctor will give you a non-acog alpha injection. Patients who receive these injections should have regular inhibitor checks because drugs that contain blood clotting factors can sometimes trigger antibody formation, making it less effective.
Complications of hemophilia
A number of complications that can occur due to hemophilia include:
Prevention of bleeding in hemophilia patients
If you are diagnosed with hemophilia, here are some efforts that can be made to prevent bleeding:
Under normal circumstances, proteins that play a role in blood clotting form a protective tissue around platelets (blood cells), which allows them to clot blood and stop bleeding. In patients with hemophilia, protein deficiency, blood clotting factors, causing prolonged bleeding.
Symptoms of hemophilia
The main symptom of hemophilia is bleeding that is difficult to stop or last longer, such as bleeding from the nose (nosebleeds), muscles, gums or joints. The severity of bleeding depends on the number of clotting factors in the blood.
In mild hemophilia, the amount of coagulation factors varies from 5 to 50%. Symptoms in the form of prolonged bleeding only occur when the patient has an injury or post-medical procedure, such as surgery.
In moderate hemophilia, the amount of coagulation factors varies from 1 to 5%. Symptoms that may appear include:
- Bruised skin.
- Bleeding in the area around the joints.
- Tingling and mild pain in the knees, elbows, and ankles.
The last type of hemophilia is severe hemophilia with a number of coagulation factors of less than 1%. Patients usually experience spontaneous bleeding, such as bleeding gums, nosebleeds, or joint and muscle bleeding, for no apparent reason. Symptoms of bleeding that must be known is bleeding inside the skull (intracranial bleeding). These symptoms are characterized by severe headaches, vomiting, stiff neck, paralysis of some or all of the facial muscles and double vision. Hemophilia patients with intracranial hemorrhage need emergency treatment.
Causes of hemophilia
The process of blood clotting requires elements in the blood, such as platelets and plasma blood proteins.
In the case of hemophilia, there is a genetic mutation that results in the absence of certain clotting factors in the blood. The cause of hemophilia A is a gene mutation that occurs in coagulation factor VI. Hemophilia B is caused by a mutation in the blood factor IX (9).
Genetic mutations in hemophilia A and B occur on the X chromosome and can be inherited from father, mother or both parents. Most women can carry this abnormal gene and send it to their children without feeling the symptoms of hemophilia themselves. Men with this abnormal gene tend to have hemophilia. On the other hand, this gene mutation can also occur spontaneously in people with hemophilia who have no family history of hemophilia.
Diagnosis of hemophilia
If there is no family history of hemophilia, this condition is usually diagnosed from visible symptoms. Children are usually suspected of having an illness when they start crawling or walking, with bleeding skin or joints. Others are detected when they enter adulthood while undergoing dental care or other procedures.
If there is a family history of hemophilia, the doctor will recommend an initial examination to determine the risk of hemophilia in children. Examinations include:
- Pre-pregnancy examination, which includes blood tests and tissue samples to check for signs of genetic mutations responsible for hemophilia in both parents.
- Examination during pregnancy. During this examination, the doctor will take a placental sample from the uterus (villous chronological sampling) to determine whether the fetus is hemophilic. This test is usually done between the 11th and 14th weeks of pregnancy. Amniocentesis is another test that involves the analysis of amniotic water samples at the 15th and 20th weeks of pregnancy.
- Postpartum examination. In this case, the doctor will carry out a complete blood test and a functional test of coagulation factors, including clotting factors VIII (8) and IX (9). In addition, the baby's cord blood at birth can also be tested to ensure the presence of hemophilia.
Hemophilia treatment is divided into two, namely treatment to prevent bleeding (prophylaxis) and treatment for bleeding (on request).
To prevent bleeding, patients are usually given a blood clotting factor injection. Injections given to hemophilia A patients are alpha octocogs that are designed to control coagulation factor VIII (8). Injection is recommended every 48 hours. Possible side effects include itching, rashes, and pain and redness in the injected area. Meanwhile, patients with hemophilia B with deficiency of coagulation factor IX (9) will receive nonacog alpha injections. These injections are usually done twice a week. Possible side effects include nausea, swelling of the area, dizziness and discomfort. Injections to prevent bleeding are usually given for life and changes in the patient's condition will continue to be monitored through routine programs.
The second goal of treatment is to stop the prolonged bleeding. In this case, the drugs given at the time of bleeding are almost identical to those used to prevent bleeding. To stop bleeding in the case of hemophilia A, your doctor will give you an injection of alpha octocog or desmepressin. For hemophilia B, the doctor will give you a non-acog alpha injection. Patients who receive these injections should have regular inhibitor checks because drugs that contain blood clotting factors can sometimes trigger antibody formation, making it less effective.
Complications of hemophilia
A number of complications that can occur due to hemophilia include:
- Damage to the joints that can damage the delicate tissues of the joints or cartilage and thin layers in the joints (synovium).
- Internal bleeding. This bleeding can occur in the muscles and cause swelling in the legs.
- Infection. Hemophiles are at risk of infection, especially if they receive a blood transfusion.
Prevention of bleeding in hemophilia patients
If you are diagnosed with hemophilia, here are some efforts that can be made to prevent bleeding:
- Keep your teeth clean to avoid tooth and gum disease which can cause bleeding.
- Avoid sports that involve physical contact. Do sports that are recommended by doctors to strengthen muscles and joints.
- Protect yourself from injuries, such as wearing a helmet or safety belt while driving.
- Avoid using anticoagulant drugs that can prevent blood clots.
- Avoid painkillers that can increase bleeding.
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