Hemophilia: What It Is, Causes, Symptoms, and Treatment

There are many abnormalities that cause people to become ill due to defective genes. One of these is hemophilia. Hemophilia is defined as a hereditary bleeding disorder that is a type of bleeding disorder. It can rarely appear later in life. Although treatment for the disease is possible, individuals with hemophilia must learn to live with this condition because severe cases can lead to serious bleeding and blood loss. To prevent these situations, it is essential to have a good understanding of hemophilia. Learning about the diagnosis and treatment methods and getting examined in the presence of symptoms is crucial for the patient's health.

What is Hemophilia?

Hemophilia is a genetic bleeding disorder that prevents the blood from clotting as it should. This hereditary disease can lead to spontaneous bleeding or bleeding after surgery. The blood contains many proteins that aid in clotting to stop bleeding. Individuals 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 the deficient protein, the higher the likelihood of bleeding that can lead to serious health problems. Platelets are small cell fragments that form in the bone marrow, which is the spongy tissue inside bones. Platelets play an important role in blood clotting. When blood vessels sustain any injury, clotting factors help platelets stick together to block the wounds and stop the bleeding. Although very rarely, hemophilia can develop later in life, after birth. A significant number of these cases involve middle-aged or older individuals, as well as young women who have recently given birth or are in the late stages of pregnancy. However, treatment for these types of hemophilia is generally easier and more permanent compared to other congenital types. When appropriate treatments are applied, the patient can return to their former health.

Types of Hemophilia

There are several different types of hemophilia. However, the most common hereditary types are classified into two categories: Type A and Type B. In Hemophilia A, there is a deficiency of clotting factor VII. This accounts for approximately 80% of hemophilia cases. About 70% of patients with Hemophilia A are classified as having severe hemophilia, and this type is also referred to as "Classical Hemophilia." The other type of hemophilia is Hemophilia B. Patients with Hemophilia B have a deficiency of clotting factor IX. This type is also known as "Christmas Disease." In both Hemophilia A and B, the severity of the disease can be defined as mild, moderate, or severe based on the amount of clotting factor present. If the levels of clotting factors are between 5% and 40%, the condition is considered mild; if between 1% and 5%, it is moderate; and if less than 1%, it is classified as severe. Symptoms can parallel in both types of hemophilia. However, depending on the severity of the disease, the symptoms may be more or less severe.

How is Hemophilia Diagnosed?

Hemophilia is generally diagnosed at birth. If the body begins to produce antibodies that attack and destroy clotting factors, the disorder can also manifest later in life. This condition is called acquired hemophilia. Acquired hemophilia is also known as autoimmune hemophilia or acquired hemophilia A. The diagnosis primarily relies on a physical examination. The presence of hemophilia symptoms in an individual indicates a tendency for these symptoms to occur in other family members. To identify this situation, questions are asked to gather information about the family’s medical history. Diagnosis of severe hemophilia is typically made during infancy, often during circumcision or when excessive bleeding or bruising occurs in a toddler. After detecting symptoms, blood tests are performed to determine the levels of factor VII or factor IX. The blood tests determine the type of hemophilia, the levels of clotting factors in the blood, and whether the disease is mild, moderate, or severe. The doctor may also request tests from other family members to determine their factor VII levels, aiming to identify other individuals who may have the condition.

What Causes Hemophilia?

The genes that regulate the production of factor VII and factor IX are found solely on the X chromosome. This means that hemophilia 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 will not have hemophilia herself but will be a carrier of the disease. This implies that the disease can easily be passed from the mother to her children. Any male child born to her has a 50% chance of having hemophilia. Additionally, any female child born has a 50% chance of being a carrier without having hemophilia. Generally, the likelihood of girls being born with hemophilia is quite low. For a girl to be born with hemophilia, the mother must be a carrier, and the father must have hemophilia. In this case, the female child will inherit abnormal genes on both of her X chromosomes. Research indicates that approximately 20% of all hemophilia cases are due to spontaneous gene mutations. In such cases, there is no family history of abnormal bleeding.

What Are the Symptoms of Hemophilia?

The most prominent and primary symptom of hemophilia is abnormal bleeding. This may present as prolonged external bleeding or excessive bruising following minor trauma. The symptoms vary depending on whether the disease is mild, moderate, or severe.

• In severe hemophilia, spontaneous bleeding is frequently observed.
• In moderate hemophilia, prolonged bleeding may occur following significant injuries.
• In mild hemophilia, patients may experience unusual bleeding, but this typically arises from major trauma, injuries, or surgical procedures.

Patients with hemophilia may experience internal bleeding for various reasons. However, bleeding commonly occurs in the elbows, knees, hips, shoulders, and ankles. Initially, pain may not be evident, but if bleeding continues, swelling in the joints may occur along with pain. Over time, repeated bleeding in the joints and muscles can lead to permanent damage such as joint deformity and limited mobility. A brain hemorrhage is a very serious condition for patients with severe hemophilia and can be life-threatening.

Other symptoms include:

• Changes in behavior
• Excessive sleepiness
• Persistent severe headaches
• Neck pain
• Double vision
• Vomiting
• Confusion or seizures

In such cases, it is essential to seek medical attention without delay.

Hemophilia Treatment

There is no specific and definitive treatment for hemophilia. However, patients need to learn how to live with hemophilia. This ensures that they do not put their lives at risk by following the correct methods during injuries and bleeding. In severe cases, artificial clotting agents may be injected into the blood. These medications are administered via injection. In mild cases, injections are not recommended at the onset of bleeding; they are typically given as bleeding episodes prolong. In cases of serious bleeding and trauma, regular injection therapy is applied to prevent further bleeding. The most effective treatment method for patients living with hemophilia is to avoid certain activities. It is crucial to refrain from heavy and contact sports because bleeding can create serious situations for hemophilia patients. Patients should also avoid using anticoagulant medications, as these can make it even more difficult for their already hard-to-clot blood to clot. Attention to oral and dental health is also important. Infections and bleeding in the mouth can reach serious levels. By considering these situations, it is possible to lead a higher quality and healthier life.

If you are exhibiting symptoms of hemophilia and wish to seek treatment, do not hesitate to schedule an examination. This way, you can learn how to cope with hemophilia and lead a better quality of life.