Hemophilia

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Hemophilia is a rare genetic disorder that impairs the body’s ability to form blood clots, leading to excessive bleeding even from minor injuries. The condition arises due to a deficiency or absence of specific clotting factors, proteins crucial in the blood clotting process. The two most common types are Hemophilia A (deficiency in clotting factor VIII) and Hemophilia B (deficiency in clotting factor IX).

Signs & Symptoms

  1. Prolonged bleeding:
    • After cuts, injuries, or surgeries.
  2. Unexplained bruising:
    • Often large and deep.
  3. Joint pain and swelling:
    • Caused by bleeding into joints (hemarthrosis), particularly in knees, elbows, and ankles.
  4. Frequent nosebleeds:
    • Without a known cause.
  5. Internal bleeding:
    • May lead to blood in urine or stool, or severe abdominal pain.

In severe cases, spontaneous bleeding may occur without any apparent trauma.

Anatomy Affected

  1. Circulatory system:
    • Clotting pathways are compromised.
  2. Joints:
    • Repeated bleeding into joints can cause chronic pain and joint damage.
  3. Muscles and tissues:
    • Internal bleeding can occur within muscle compartments.
  4. Central nervous system:
    • Rare but serious bleeding into the brain may occur.

Cause/Transmission

  1. Genetic mutations:
    • Hemophilia A and B are caused by mutations in the genes responsible for producing clotting factors VIII and IX, respectively.
    • Both conditions are inherited in an X-linked recessive manner, meaning they primarily affect males, while females are typically carriers.
  2. Acquired hemophilia:
    • Rarely, the condition may develop later in life due to autoimmune conditions, pregnancy, cancer, or certain medications.

Treatments

  1. Clotting factor replacement therapy:
    • Regular infusions of recombinant or plasma-derived clotting factors VIII or IX.
  2. Desmopressin (DDAVP):
    • Used for mild Hemophilia A to stimulate the release of stored factor VIII.
  3. Antifibrinolytic medications:
    • Such as tranexamic acid, to help prevent clots from breaking down.
  4. Gene therapy (emerging treatment):
    • Aims to introduce functional copies of defective clotting factor genes.
  5. Management of bleeding episodes:
    • Immediate treatment to replace clotting factors and minimize complications.

Prevention

  • Genetic counseling for families with a history of hemophilia can help assess the risk of passing the condition to offspring.
  • Prenatal testing is an option for at-risk pregnancies.
  • Avoid activities with high risk of injury to reduce bleeding episodes.

Prognosis/Outlook

  • Short-term: With appropriate treatment, bleeding episodes can be managed effectively, reducing the risk of complications.
  • Long-term: Patients with access to modern therapies often have a normal life expectancy. Without treatment, severe hemophilia can lead to life-threatening complications, including significant joint damage or fatal bleeding.
  • Mortality rate: Improved drastically with advancements in factor replacement therapy. However, complications like intracranial hemorrhage still pose risks.

Hemophilia requires lifelong management, but breakthroughs in gene therapy and novel treatments are offering hope for a better quality of life and potentially curative options.

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