Hemophilia: What is it, Causes, Symptoms and Treatment
There are many abnormalities that cause people to get sick due to defective genes. One of these is hemophilia disease. Hemophilia, a bleeding disorder, is defined as an inherited bleeding disorder. It is only very rare for it to occur later in life. Although the disease can be treated, hemophilia patients must learn to live with this disease. Because in severe hemophilia diseases, serious bleeding may occur and these bleeding may lead to blood loss. In order to prevent these situations, it is necessary to know hemophilia well. It is important for the health of the patient to learn diagnosis and treatment methods and to be examined if symptoms are observed.
What is Hemophilia?
Hemophilia is a genetic bleeding disorder that prevents blood from clotting as it should. This hereditary disease can cause spontaneous bleeding or postoperative bleeding. It contains many proteins that help clot blood to stop bleeding. People with hemophilia have deficiencies in one or more of these proteins. The level of these deficiencies also determines the severity of hemophilia. The lower the amount of protein that is missing, the more likely it is that bleeding will occur, which can lead to serious health problems. Platelets are small pieces of blood cells that form in the bone marrow, a spongy tissue in bones. Platelets have an important role in blood clotting. When blood vessels receive any injury, clotting factors help platelets stick together to plug wounds and breaks in the vessels and stop bleeding. Although very rare, hemophilia may develop after birth, that is, later in life. The majority of these cases involve middle-aged or older people, young women who have recently given birth, or are in the final stages of pregnancy. However, compared to other types of congenital hemophilia, the treatment of these types of hemophilia is easier and more permanent. When appropriate treatments are applied, the patient can regain his/her former health.
There are several different types of hemophilia. However, the most common main types of hereditary hemophilia are divided into types A and B. In hemophilia A, there is a deficiency of clotting factor VII. This accounts for approximately 80% of hemophilia cases. 70% of patients with hemophilia A type have severe hemophilia and this type of hemophilia is also called “Classical Hemophilia”. The other type of hemophilia is hemophilia B. Patients with hemophilia B have a deficiency in clotting factor IX. This type is also known as “Christmas Disease”. In both type A hemophilia and type B hemophilia, the disease can be defined as mild, moderate or severe, depending on the amount of clotting factor. If the clotting factors are between 5 and 40%, there is mild anemia, if they are between 1 and 5%, there is moderate anemia, and if they are less than 1%, there is severe anemia. Symptoms may be parallel in both types of hemophilia. However, depending on the severity of the disease, symptoms may be more or less severe.
How to Diagnose Hemophilia?
Hemophilia is generally diagnosed at birth. The disorder may also occur later in life if the body begins to produce antibodies that attack and destroy clotting factors. This condition is called acquired hemophilia. Acquired hemophilia is also called autoimmune hemophilia or acquired hemophilia A. When making a diagnosis, physical examination is primarily used. The presence of hemophilia symptoms in a person indicates that other members of the family tend to have these symptoms as well. In order to determine this situation, the person is asked questions to obtain information about the family’s medical history. People with severe hemophilia are usually diagnosed in infancy. This is more likely to happen during circumcision, when the toddler develops any bleeding or excessive bruising. After symptoms are detected, blood tests are performed to determine how much factor VII or factor IX is in the blood. Blood tests determine the type of hemophilia you have, the level of clotting factors in your blood, and whether the disease is mild, moderate, or advanced. The doctor may then request tests from other family members to determine factor VII levels. The purpose of this is to identify other individuals with the disease.
What Causes Hemophilia?
The genes that regulate the production of factor VII and factor IX are present only on the X chromosome. This means that hemophilia disease is caused by mutations in the factor VII and factor IX genes on the X chromosome. If a woman carries the abnormal gene on one of her X chromosomes, she is not likely to have hemophilia. Only in this way do they become carriers of the disease. This means that the disease can easily be passed from the mother to the children. There is a 50% chance that any of the boys will have hemophilia. In addition, the probability that one of the daughters born will be a carrier without hemophilia is also 50%. Girls are generally less likely to be born with hemophilia. In order for a girl to be born with hemophilia, the mother must be a carrier and the father must be a hemophiliac. In this case, the girl to be born will have abnormal genes on both X chromosomes. Studies show that in approximately 20% of all hemophilia cases, the disease is caused by a spontaneous gene mutation. In such cases, there is no family history of abnormal bleeding.
What are the symptoms of hemophilia?
The most obvious and primary symptom of hemophilia is abnormal bleeding. Excessive bruising occurs after either prolonged external bleeding or minor trauma. Symptoms vary depending on whether the disease has a mild, moderate or severe form.
- Spontaneous bleeding is common in severe hemophilia.
- In moderate hemophilia, prolonged bleeding may occur after significant injuries.
- In mild hemophilia, the patient may experience unusual bleeding. However, this situation occurs in major traumas, injuries or surgeries.
Hemophilia patients may experience internal bleeding for some reason. However, bleeding commonly occurs in the elbows, knees, hips, shoulders and ankles. There may be no pain at first, but if the bleeding continues, the joints may swell and pain may occur. Over time, repeated bleeding in joints and muscles can cause permanent damage such as joint deformity and limitation of movement. Brain hemorrhage is a very serious condition for people with severe hemophilia. It can be life threatening.
- behavioral changes,
- excessive sleepiness,
- Severe headache that does not go away,
- Neck pain,
- double vision,
- Other symptoms include confusion or seizures. In such cases, it is necessary to be examined without wasting time.
It is not possible to provide a specific and definitive treatment of hemophilia. But patients need to learn how to live with hemophilia. In this way, it is ensured that patients do not endanger their lives in case of injuries and bleeding by following the correct methods. In severe cases, artificial clotting agents may be injected into the blood. These drugs are in the form of injections. In mild cases, injections are not recommended at the beginning of bleeding. Artificial coagulant injections are applied more frequently as the duration of bleeding prolongs. In cases of serious bleeding and trauma, injection therapy is applied regularly to prevent bleeding. The most effective treatment method is for patients who have to live with hemophilia to avoid certain actions. It is very important to avoid heavy and injury-injuring sports. Because bleeding causes serious situations for hemophilia patients. It is necessary to avoid using blood thinners. Because blood, which is already difficult to clot, becomes even more difficult to clot due to these medications. It is also necessary to pay attention to oral and dental health. Inflammation and bleeding that may occur in the mouth can reach serious levels. Taking these situations into consideration, it is possible to live a better quality and healthier life.
If you show symptoms of hemophilia and want to be treated, you can be examined without delay. Thus, you can be informed about how to deal with hemophilia and live a better quality of life.