Rare Classroom: Hemophilia

Welcome to the Rare Classroom, a new series from Patient Worthy. Rare Classroom is designed for the curious reader who wants to get informed on some of the rarest, most mysterious diseases and conditions. There are thousands of rare diseases out there, but only a very small number of them have viable treatments and regularly make the news. This series is an opportunity to learn the basics about some of the diseases that almost no one hears much about or that we otherwise haven’t been able to report on very often.

Eyes front and ears open. Class is now in session.

The rare disease that we will be learning about today is:

Hemophilia

What is Hemophilia?

  • Hemophilia is a rare bleeding disorder in which the blood doesn’t clot normally​
  • Individuals with hemophilia may bleed for a longer time than others after an injury and may also bleed inside the body, especially in the knees, ankles and elbows​
  • This bleeding can damage organs and tissues and may be life threatening. ​
  • Hemophilia usually is inherited​
  • Rarely, hemophilia can be “acquired.”  This means it is developed during a patient’s lifetime. This can happen if the body forms antibodies that attack the clotting factors in the bloodstream.​
  • People born with hemophilia have little or no clotting factor. Clotting factor is a protein needed for normal blood clotting. There are several types of clotting factors. These proteins work with platelets to help the blood clot.​
  • Hemophilia A
    • Patients with hemophilia A are missing or have low levels of clotting Factor VIII​
    • Other names for hemophilia A are Classic hemophilia and Factor VIII deficiency​
    • About 8 out of 10 people who have hemophilia have type A​​
  • Hemophilia B
    • Patients with hemophilia B are missing or have low levels of clotting factor IX​
    • Other names for hemophilia B are Christmas disease and Factor IX deficiency ​
  • Hemophilia usually occurs in males (with rare exceptions)​
  • About 1 in 5,000 males are born with hemophilia each year​

How Do You Get It?

  • A defect in one of the genes that determines how the body makes blood clotting factor VIII or IX causes hemophilia. These genes are located on the X chromosomes.​
  • Chromosomes come in pairs. Females have two X chromosomes, while males have one X and one Y chromosome. Only the X chromosome carries the genes related to clotting factors.​
  • A male who has a hemophilia gene on his X chromosome will have hemophilia. When a female has a hemophilia gene on only one of her X chromosomes, she is a “hemophilia carrier” and can pass the gene onto her children. Sometimes carriers have low levels of clotting factor and have symptoms of hemophilia, including bleeding. Clotting factors are proteins in the blood that work together with platelets to stop or control bleeding.
    • Each daughter has a 50 percent chance of inheriting the hemophilia gene from her mother and being a carrier. Each son has a 50 percent chance of inheriting the hemophilia gene from his mother and having hemophilia.
  • Very rarely, a girl may be born with a very low clotting factor level and have a greater risk for bleeding, similar to boys who have hemophilia and very low levels of clotting factor. There are several hereditary and genetic causes of this much rarer form of hemophilia in females.
  • Some males who have the disorder are born to mothers who aren’t carriers. In these cases, a mutation occurs in the gene during the development of the child.

What Are The Symptoms?

  • The major signs and symptoms of hemophilia are excessive bleeding and easy bruising​
  • The extent of bleeding depends on how severe the hemophilia is​
  • Children who have mild hemophilia may not have signs unless they have excessive bleeding from a dental procedure or surgery.​
  • Males who have severe hemophilia may bleed heavily after circumcision.​
  • Bleeding can occur on the body’s surface (external bleeding or inside the body (internal bleeding)​
    • Signs of external bleeding may include:
      • Bleeding in the mouth from a cut or bite or from cutting or losing a tooth​
      • Nosebleeds for no obvious reason​
      • Heavy bleeding from a minor cut​
      • Bleeding from a cut that resumes after stopping for a short time​
    • Signs of internal bleeding may include: 
      • Blood in the urine (from bleeding in the kidneys or bladder)​
      • Blood in the stool (from bleeding in the intestines or stomach)​
      • Large bruises (from bleeding into the large muscles of the body)​
    • Bleeding in the joints
      • Bleeding in the knees, elbows, or other joints is another common form of internal bleeding in people who have hemophilia. This bleeding can occur without obvious injury.​
      • At first, the bleeding causes tightness in the joints, with no real pain or any visible sign of bleeding. The joint then becomes swollen, hot to touch and painful to bend.​
      • Swelling continues as bleeding continues​
      • Eventually, movement in the joint is temporarily lost. Pain can be severe. Joint bleeding that isn’t treated quickly can damage the joint.​
    • Bleeding in the brain
      • Internal bleeding in the brain is a very serious complication of hemophilia. It can happen after a single bump on the head or a more serious injury. The signs and symptoms of bleeding in the brain include:
      • Long-lasting, painful headaches or neck pain or stiffness
      • Vomiting
      • Drowsiness
      • Difficulty walking, loss of arm/leg strength/coordination
      • Convulsions and seizures
      • Double vision​​

How Is It Treated?

  • Desmopressin
  • Physical therapy
  • Steroids
  • Patients should avoid anticoagulants, such as warfarin and heparin
  • Drugs that thin the blood, such as ibuprofen and aspirin, may prolong bleeding
  • Replacement therapy may be given on a regular basis to prevent bleeding. This is called preventive or prophylactic therapy.​
  • Replacement therapy may only need to be given on an as needed basis, this is called demand therapy
  • Demand therapy is less intensive and expensive, however there is a risk that bleeding will cause damage before the therapy is received​
  • Complications of replacement therapy include:
    • Developing antibodies (proteins) that attack the clotting factor- referred to as inhibitors
      • Antibodies can destroy the clotting factor before it has a chance to work. This is a serious problem. It prevents the main treatment for hemophilia (replacement therapy) from working.
      • Those most at risk for developing inhibitors:
        • People with severe hemophilia ​
        • Children (inhibitors usually develop during childhood)​
        • People with a family history of inhibitors​
        • People of African or Latino origin (higher frequency of inhibitors)​​
    • Developing viral infections from human clotting factors​
    • Damage to joints, muscles or other parts of the body resulting from delays in treatment​
  • FEIBA [ANTI-INHIBITOR COAGULANT COMPLEX]
    • FEIBA is an Anti-Inhibitor Coagulant Complex indicated for use in hemophilia A and B patients with inhibitors for:​
    • Control and prevention of bleeding episodes​
    • Use around time of surgery​
    • Routine prophylaxis to prevent or reduce the frequency of bleeding episodes​
    • FEIBA is not indicated for the treatment of bleeding episodes resulting from coagulation factor deficiencies in the absence of inhibitors to coagulation factor VII or IX​
    • FEIBA comes in 3 dosage strengths and is administered via an at-home infusion after training and dosage strength is determined by the patient’s doctor. ​
    • FEIBA has been approved for on-demand treatment for over 35 years​
    • It is approved in more than 60 countries worldwide​
    • FEIBA has been indicated for prophylaxis in more than 40 countries since 2013​
  • Gene therapy is currently under research and has shown some potential, particularly in hemophilia B.

Where Can I Learn More???

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