Hemophilia is not a single disease but rather one of a group of inherited bleeding disorders that cause abnormal bleeding and poor blood clotting. The term is most commonly used to refer to two specific conditions known as hemophilia A and hemophilia B. There is a hemophilia C but this is rare (a deficiency of Factor XI) and its effect on clotting is far less pronounced than A or B.

Hemophilia A and B are classified as;

  • Mild
  • Moderate
  • severe

Causes

Hemophilia A and B are inherited in an X-linked recessive genetic pattern and are therefore much more common in males. This pattern of inheritance means that a given gene on the X chromosome expresses itself only when there is no normal gene present. For example, a boy has only one X chromosome, so a boy with hemophilia has the defective gene on his sole X chromosome.

Although it is much rarer, a girl can have hemophilia, but she would have to have the defective gene on both of her X chromosomes or have one hemophilia gene plus a lost or defective copy of the second X chromosome that should be carrying the normal genes. If a girl has one copy of the defective gene on one of her X chromosomes and a normal second X chromosome, she does not have hemophilia but is said to be a carrier. Her male children have a 50% chance of inheriting the one mutated X gene and thus have a 50% chance of having it.

Signs and symptoms

The major signs and symptoms of hemophilia are excessive bleeding and easy bruising.

Excessive Bleeding

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, an accident, 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
  • Blood in the stool
  • Large bruises
  • Bleeding in the Joints
  • Bleeding in the knees, elbows, or other joints is another common form of internal bleeding in people who have hemophilia

Bleeding in the Brain

Internal bleeding in the brain is a very serious complication of hemophilia. It can happen after a simple 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
  • Repeated vomiting
  • Sleepiness or changes in behavior
  • Sudden weakness or clumsiness of the arms or legs or problems walking
  • Double vision
  • Convulsions or seizures

Diagnosis

Blood tests are used to find out:

  • How long it takes for your blood to clot
  • Whether your blood has low levels of any clotting factors
  • Whether any clotting factors are completely missing from your blood

Pregnant women who are known hemophilia carriers can have the disorder diagnosed in their unborn babies as early as 12 weeks into their pregnancies.

Women who are hemophilia carriers also can have “pre implantation diagnosis” to have children who don’t have hemophilia.

For this process, women have their eggs removed and fertilized by sperm in a laboratory. The embryos are then tested for hemophilia. Only embryos without the disorder are implanted in the womb

Treatment

The main goal of treatment is replacement of the blood clotting factors. Clotting factor replacement therapy is carried out by infusing the clotting factor concentrates into a vein.

Depending upon the severity of the condition, replacement therapy of the deficient clotting factor may be carried out on an as-needed basis or on a regular basis to prevent bleeding episodes.

People who have mild cases of hemophilia A are sometimes treated with the drug desmopressin.

Pain relievers may be prescribed for symptom relief, but pain relievers other than aspirin or non-steroidal anti-inflammatory medications e.g. Ibuprofen must be used, since these types of drugs further inhibit the blood’s ability to clot. Acetaminophen is often given for pain relief.

Living With Hemophilia

  1. Follow your treatment plan exactly as your doctor prescribes.
  2. Have regular checkups and vaccinations as recommended.
  3. Tell all of your health care providers—such as your doctor, dentist, and pharmacist—that you have hemophilia. You also may want to tell people like your employee health nurse, gym trainer, and sports coach about your condition.
  4. Have regular dental care.
  5. Know the signs and symptoms of bleeding in joints and other parts of the body and when to call your doctor
  6. Keep a record of all previous treatments.
  7. Protect toddlers with knee pads, elbow pads, and protective helmets. All children should wear safety helmets when riding tricycles or bicycles.
  8. Be sure to use the safety belts and straps in highchairs, car seats, and strollers to protect your child from falls.
  9. Keep out of reach or locked away small and sharp objects and other items that could cause bleeding or harm.
  10. Check play equipment and outdoor play areas for possible hazards.
  11. Wear a medical ID bracelet or necklace. The ID will alert anyone caring for you about your condition.

Sources

https://www.nhlbi.nih.gov/health/health-topics/topics/hemophilia/signs

http://www.medicinenet.com/hemophilia/page6.htm

https://ghr.nlm.nih.gov/condition/hemophilia#diagnosis

 

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