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Hemophilia: Types, Causes, Symptoms, Diagnosis, and Treatment

Haemophilia is a rare condition in which the blood does not clot normally due to a lack of blood-clotting proteins (clotting factors). If you have hemophilia, you may bleed more profusely and for a longer period of time than you would if your blood clots normally.

Small wounds typically don’t cause too much trouble. When you have an advanced case of the illness, you are most likely to experience internal bleeding, especially in the knees, ankles, and elbows. Internal bleeding poses a life-threatening risk and can harm your tissues and organs.

According to the Centres for Disease Control and Prevention (CDC), clotting factors are proteins that work with platelets to halt bleeding at the site of an injury. The most prevalent kinds of hemophilia result in reduced production of either factor VIII or factor IX. This indicates that the person is more prone to internal bleeding and has a tendency to bleed for a longer period of time following an injury.

Types of Hemophilia

Haemophilia comes in three different forms:

  • Haemophilia A: This is the most frequent kind of hemophilia. This disorder occurs when the body does not produce enough clotting factor 8 (factor VIII). According to the CDC, hemophilia A affects roughly 10 in every 100,000 persons.
  • Haemophilia B: Haemophilia B is a condition where there is insufficient clotting factor 9 (factor IX). Haemophilia B affects around 3 in 100,000 Americans, according to the CDC.
  • Haemophilia C: Another name for hemophilia C is factor XI (factor 11) deficiency. One in 100,000 persons has this kind of hemophilia, which is extremely uncommon.

Haemophilia is a hereditary disorder that runs in families. Although there is no cure for this ailment, it can be managed to reduce symptoms and avert further health issues.

Symptoms of Hemophilia

The following are typical hemophilia symptoms:

  • Bleeding into the joints (typically the knees, elbows, and ankles), can result in edema, pain, or stiffness in the joints.
  • Bleeding into the skin, muscle, or soft tissue that results in bruising or a blood clot (hematoma).
  • Bleeding from the gums and mouth, as well as bleeding that is challenging to stop when a tooth has fallen out.
  • After circumcision bleeding.
  • Bleeding following vaccinations or injections.
  • Newborn head bleeding following delivery.
  • Blood in the feces or urine.
  • Frequent bleeding and difficult-to-stop nosebleeds.

Causes of Hemophilia

Given that hemophilia is frequently hereditary, genetics has a significant impact on who contracts the disease. Haemophilia can, however, occasionally be acquired. Haemophilia is typically caused by a mutation in the genes that produce the clotting factors. Only the X chromosome contains the genes for factors VIII and IX, while the factor XI gene is located on chromosome 4. Haemophilia can be acquired in some patients. When a patient’s immune system targets clotting factors, this happens. VIII Having acquired hemophilia has been linked to:

Diagnosis For Hemophilia

Haemophilia diagnosis involves:

  • a review of the signs
  • a clinical assessment
  • a review of one’s medical background
  • diagnostic tests such as blood tests

A physician will inquire about a patient’s family and personal medical history if they suspect hemophilia or if they have bleeding issues. The next step is a physical examination by a doctor.

Blood tests can reveal the amount of clotting factors present, how long it takes for the blood to clot, and which clotting factors, if any, are lacking. The findings of blood tests can also be used to determine the type and severity of hemophilia. 

Note: Read about Hemophilia treatment cost in India for further information.

Treatments

Types of Hemophilia

Types of Hemophilia

Haemophilia has no known cure, yet it is successfully managed by medical professionals. The goal of treatment is to restore the protein that was lost and avoid problems. Giving or restoring the missing or insufficient clotting factors is required.

From human blood, scientists can obtain clotting factor therapies for replacement therapy, or they can create a form artificially in a lab. Recombinant clotting factors are substances that are created synthetically. Because they further lower the risk of spreading pathogens that can be present in human blood, doctors frequently select recombinant clotting factors as their first line of treatment. Modern screening methods have, nevertheless, reduced the risk of disease transmission from human samples.

The two primary types of replacement therapy are:

  • Prophylactic treatment: In order to stop bleeding, some patients will require ongoing replacement therapy. The term for this is preventive treatment. For patients with severe types of hemophilia A, doctors often advise routine treatment.
  • Demand therapy: This will immediately halt the bleeding. Mild hemophiliacs could simply require demand therapy, which medical professionals only offer after bleeding starts and continues to be uncontrollable.

Other treatments comprise:

  • Physical treatment: If internal bleeding has harmed your joints, it might lessen the symptoms and indicators. Surgery can be required for severe injury.
  • A first aid kit for small cuts: The bleeding will typically stop with pressure and a bandage. Use an ice pack to treat minor skin-deep bleeding. You can use ice pops to stop minor mouth bleeding.
  • Desmopressin: This hormone may encourage the body to release more clotting factors in some mild hemophilia types. It can be injected gradually into a vein or sprayed into the nose.
  • Hemlibra (emicizumab): This medication is more recent and does not contain clotting factors. When a person with hemophilia A experiences bleeding, this medication can help.
  • Medications for clot preservation: These drugs, also referred to as antifibrinolytics, work to stop clots from dissolving.
  • Fibrin sealants: To encourage clotting and healing, they can be applied directly to the locations of the wounds. For dental procedures, fibrin sealants are particularly helpful.

Complications

Haemophilia treatment may lead to complications. They can include the production of treatment-specific antibodies and viral infections brought on by human clotting factors.

Blood clots can also result after treatment. It’s critical to seek therapy as soon as you can to lessen the possibility of harm to your muscles, joints, and other body parts.

Bottom Line

A genetic bleeding illness called hemophilia is characterized by persistent bruising, nosebleeds, and, in more severe cases, spontaneous bleeding. Since the mutation occurs on the X chromosome, which males have only one copy of, the condition typically affects men.

The severity of the hemophilia can have an impact on the symptoms. To stop future bleeding problems, the treatment focuses on replacing clotting factors. If additional treatments are required, a doctor may also suggest them.

Reference

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