What is Hemophilia Disease?

Hemophilia Disease
Hemophilia Disease

What is Hemophilia Disease?

Hemophilia disease is a disease that causes bleeding disorders due to lack of clotting factors. As a result, the bleeding lasts longer when the body is injured.

Under normal circumstances, the protein that becomes the blood clotting factor forms a retaining web around the platelets (blood cells) that can freeze the blood and ultimately stop the bleeding. In people with hemophilia disease, the lack of protein that became the blood clotting factor caused the bleeding to occur in prolonged.

Hemophilia disease is a congenital disease commonly experienced by men. This disease can be lowered due to gene mutations that result in changes in the DNA strands (chromosomes) that make the process in the body is not running normally. Mutation of this gene can come from the father, mother, or both parents. There are many types of hemophilia, but the most common types are hemophilia A and B. The severity of the hemophilia sufferers depends on the amount of clotting factors in the blood. The less the amount of blood clotting factor, the more severe the hemophilia. Although there is no cure for hemophilia, the sufferer can live normally during the treatment of symptoms and avoid any conditions that trigger hemorrhage.

Symptoms of Hemophilia Disease

The main symptoms of hemophilia disease are bleeding that is difficult to stop or last longer, including nose bleeding, muscle, gum, or joints. The severity of bleeding depends on the amount of freezing factor in the blood.
In mild hemophilia, the number of clotting factors ranges from 5-50%. Symptoms of prolonged bleeding appear when patients suffer injuries or post medical procedures, such as surgery.

In moderate haemophilia, the number of clotting factors ranges from 1-5%. Symptoms that can arise include:

  • Skin easy bruising.
  • Bleeding in the area around the joint.
  • Tingling and mild pain in the knees, elbows and ankles.

The last type of hemophilia disease is severe hemophilia with a total clotting factor of less than 1%. Patients usually often bleed spontaneously, such as bleeding gums, nosebleeds, or bleeding joints and muscles for no apparent reason. Symptoms of bleeding that need to be aware of is bleeding in the skull (intracranial hemorrhage). Symptoms are characterized by severe headaches, vomiting, stiff neck, paralysis in part or all of the facial muscles, and double vision. Patients with hemophilia who experience intracranial bleeding need emergency treatment.

Causes of hemophilia Disease

The process of blood coagulation requires elements in the blood, such as platelets and blood plasma proteins.
In the case of hemophilia disease, there are gene mutations that cause the body to lack certain clotting factors in the blood. The cause of hemophilia A is a gene mutation occurring in the clotting factor VI While hemophilia B is caused by mutations that occur in the clotting factor IX (9) in the blood.

Mutation of genes in hemophilia A and B occurs on the X chromosome and can be derived from the father, mother, or both parents. Most women can become carriers of this abnormal gene and lower it to their children, without themselves experiencing the symptoms of hemophilia. While men with abnormal genes are likely to suffer from hemophilia. On the other hand, these gene mutations may also occur spontaneously in people with hemophilia who have no family history of hemophilia.

Diagnosis of hemophilia disease

In the absence of a family history of hemophilia disease, this condition is usually diagnosed from visible symptoms. Children are usually suspected of having this disease by the time they start crawling or walking marked with bruised skin or joint bleeding. Some others are detected when entering adulthood when they undergo dental procedures or other procedures.

If there is a history of hemophilia disease in the family, the doctor will advise early examination to determine the risk of hemophilia in children. These checks include:

  • Pre-pregnancy checks, which consist of blood tests and tissue samples to examine the signs of mutations in the genes that cause hemophilia in both parents.
  • Examination during pregnancy. In this examination, the doctor will take a sample of the placenta from the womb (chronionic villus sampling) to see if the fetus has haemophilia disease. This test is usually done at week 11 to the 14th of pregnancy. Another examination is amniocentesis, which is a sample of amniotic fluid at the 15th to 20th week of pregnancy.
  • Examination after child’s birth. In this case the doctor will perform a complete blood test and freezing factor function tests, including clotting factors VIII (8) and IX (9). In addition, blood from the umbilical cord of a baby at birth may also be tested to confirm the presence of hemophilia.

Treatment of hemophilia disease

Handling of hemophilia disease is grouped into two, namely handling to prevent the occurrence of bleeding (prophylaxis) and treatment in the event of on-demand (bleeding).

To prevent the occurrence of bleeding, patients are usually given injections of blood clotting factors. The injection given to hemophilia disease A is an octocog alpha designed to control clotting factor VIII (8). This injection is recommended every 48 hours. Side effects that may arise, among them are itching, skin rashes, and pain and redness in the injected area. Meanwhile, patients with hemofiilia B with a lack of clotting factor IX (9) will get a nonacog alpha injection. Injection of this drug is usually done 2 times a week. Possible side effects include nausea, swelling of the injected area, dizziness, and discomfort. Injections to prevent this bleeding are usually given for life, and the progression of the patient’s condition will continue to be monitored through a routine examination schedule.

The second goal of treatment is to stop prolonged bleeding. In this case, the drug given at the time of the bleeding is almost the same as the drug given to prevent bleeding. To stop the bleeding in the case of hemophilia A, the doctor will give an injection of octocog alpha or desmepressin. As for the case of hemophilia B, doctors will give nonacog alpha injections. Patients who received this injection should check the levels of inhibitors regularly, because blood clotting factor drugs can sometimes trigger the formation of antibodies so that the drug becomes less effective.

Complications of Hemophilia disease

A number of complications that can occur due to hemophilia disease are:

  • Damage to joints that potentially damage the fine tissues of joints or cartilage and a thin layer inside the joint (synovium).
  • Internal bleeding. This bleeding can occur inside the muscle and cause the limb to swell.
  • Infection. People with hemophilia disease are at risk of infection, especially if they have blood transfusions.

Prevention of Bleeding in Hemophilia Patients

If you are diagnosed with hemophilia, some efforts that can be done to prevent bleeding are:

  • Maintain dental hygiene to avoid dental and gum disease that can cause bleeding.
  • Avoid sports that involve physical contact. Do sports recommended by doctors to strengthen muscles and joints.
  • Protect yourself from injuries. For example is by using a helmet or seat belt when
  • Avoid the use of blood-thinning medications that can inhibit blood clotting.
  • Avoiding pain medications that potentially increase bleeding.
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