Hamophilia is a rare disease in which blood clots are absent because it lacks the proteins that allow the blood to clot normally.
What is Hemophilia, a Genetic Disease?
Although diseases can develop in humans at any stage of life depending on environmental factors, in some cases congenital diseases due to disorders that develop during the production of egg and sperm cells and fertilization. it could be the subject. Diseases carried by genetic codes are congenital and can never be fully cured. Complications caused by some types of genetic diseases can only be prevented with supportive treatments.
One of the genetic diseases is hemophilia. Hemophilia, a rare disease, causes the blood to fail to clot normally. This is due to a congenital deficiency of coagulation factors. Bleeding caused by any injury in patients may last much longer than in other individuals, but internal bleeding may also develop in the body. Since the bleeding seen in hemophilia patients can cause much more severe blood loss compared to other individuals, it is very important for the patients to receive appropriate treatment, and to inform the health institution that the person has hemophilia in case of any health problem.
Wounds of patients with hemophilia. It continues for a long time as normal coagulation will not occur. In minor cuts, hemophilia usually does not cause major problems. More risky hemorrhages are deep wounds on the knees, ankles, and elbows. In addition, bleeding that may occur in the brain is the most risky. Such deep injuries can damage organs, tissues and even be life-threatening.
Operation of patients with hemophilia is among the risky conditions. It is very difficult to stop bleeding after surgery compared to normal patients, and this causes intense blood loss. However, hemophilia does not show the same severity in all patients. It may be more severe or milder depending on the amount of proteins that provide clotting in the blood. The lower the amount of this protein in the blood, the more serious the life-threatening bleeding.
In very rare cases, hemophilia is seen even though it is not genetic. can. Many of these cases are middle-aged or elderly people who have just given birth or are at the end of their pregnancy. However, the treatment of such hemophilias that occur later is definitely possible. Different methods are used in the treatment of the genetically occurring disease.
What are the Symptoms of Hemophilia?
The signs and symptoms of hemophilia vary depending on the level of coagulation factors. Serious bleeding occurs only after surgeries or severe trauma if the coagulation factor level is slowly decreasing. However, if the coagulation factors are at severely low levels, the possibility of spontaneous bleeding is high in patients. In patients:
• Unexplained excessive bleeding after cuts, injuries, surgeries or dental treatments,• Recurrent bleeding after a period of stopping bleeding,• Major or deep bruises after minor blows,• Unusual bleeding after vaccinations or injections, • Pain, swelling or tightness in the joints of the patients,• Blood in the urine or stools,• Nosebleeds that occur without any impact or cause,• Unexplained irritability in infants are among the most common symptoms.
Blood in the urine or stool is often a symptom of It is a sign of internal bleeding. Lightly hitting the head can cause brain hemorrhages. Therefore, patients with hemophilia should take these conditions seriously. If untreated symptoms of hemophilia are not treated, it is life-threatening.
What are the Causes of Hemophilia?
When bleeding occurs in the human body, the body forms a clot in the area of the wound to stop the bleeding . Blood cells gather around the wound to form this clot. There are some factors that make these blood cells come together. Hemophilia occurs when there is a deficiency or change in any of these factors. The reason for this change or deficiency is genetic mutation. Because of the mutation, the protein that ensures coagulation does not work properly. These proteins are located on the X chromosome and the X chromosome in females. and common in men. Therefore, hemophilia occurs in both men and women.
There are several types of hemophilia, and most are caused by inherited conditions. However, studies have shown that 30% of the hemophilia that occurs can also occur without genetics. In this 30% of patients, unexpected changes occur in the genes associated with hemophilia and the disease occurs. This type of subsequent hemophilia is caused by the immune system attacking the clotting factors in the blood and is a rare condition. Those who are at the end of their pregnancy or have just given birth, autoimmune conditions, some cancers and MS can cause hemophilia.
What are the Types of Hemophilia?
There are several types of hemophilia, but the most common are Hemophilia A and Hemophilia B. Hemophilia A is also known as classical hemophilia. This type is caused by a deficiency or decrease in clotting factor IIV. Hemophilia B is also known as the Christmas disease. This type is caused by a deficiency or decrease in clotting factor IX. The symptoms of both types of hemophilia are the same. They differ from each other only because the factors that cause the disease are different.
How is Hemophilia Diagnosed?
For people with a family history of hemophilia, it is possible to learn whether the fetus is affected by hemophilia during pregnancy. However, tests do involve risks in some cases. For this reason, the test is decided by the doctor by evaluating the health conditions. Advanced hemophilia is diagnosed when the individual is still an infant. However, some individuals with low levels of hemophilia may not turn out to have hemophilia for many years. The hemophilia status of such cases occurs only after a surgical intervention or severe injury. A complete blood count can be done for diagnosis.
Patients with hemophilia have a decrease in the number of hemoglobin and red blood cells. In addition, the "Active Partial Thromboplastin Time (APTT) Test" is used for diagnosis. As a result of this test, it is determined how long it takes for blood to clot. The level of coagulation factors VIII, IX, XI and XII are measured in the blood. A low level of any of these factors indicates hemophilia. I, II, V, The coagulation level of factors VII and X is measured with the "Prothrombin Time (PT) Test".
Again, the deficiency of any of these factors indicates hemoglobin. Besides these tests, the "Fibrinogen Test" is used as the last step. If no results are obtained in the first tests, he/she will benefit from this test. The fibrinogen test also measures the blood coagulation level.
What are the Treatment Methods for Hemophilia?
The main treatment for hemophilia is replacement therapy. For hemophilia A or hemophilia B disease, clotting factors concentrate is injected into the vein. These infusions help replace the missing or low clotting factor. The main goal of treatment is the injection of clotting factors obtained from healthy blood. Thus, it is aimed to ensure coagulation. In some patients, replacement therapy is applied only when there is bleeding, while in some patients it is applied without bleeding.
Replacement therapy applied when bleeding occurs is called demand therapy. However, the application area of demand therapy is not very wide. Because when bleeding occurs in advanced hemophilia patients, there is a possibility that it may be too late for treatment. Instead, it is more important to apply treatment to prevent bleeding. Depending on the results of the replacement therapy, the patient may recover completely or the treatment may continue for many years. Treatment may have side effects. For this reason, patients who are treated are under control with regular tests.
In addition to these treatments, it is important for patients to take their own precautions. Because small bumps can cause serious problems for people with hemophilia, it's important to live a mindful life to prevent bleeding. It is recommended to use protectors such as knee pads, elbow pads and helmets in pediatric hemophilia patients. It is necessary to learn first aid for sudden bleeding and to have freezing cold materials ready. For minor bleeding that may occur in the mouth, it is necessary to use popsicle. All these precautions are vital.
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