Hemophilia A

Hemophilia A is caused by an inherited X-linked recessive trait, with the defective gene located on the X chromosome.  Females have two copies of the X chromosome, so if the factor VIII gene on one chromosome doesn't work, the gene on the other chromosome can do the job of making enough factor VIII.  Males, however, have only one X chromosome, so if the factor VIII gene on that chromosome is defective, they will have hemophilia A.  Thus, most people with hemophilia A are male.

If a woman has a defective factor VIII gene, she is considered a carrier.  This means the defective gene can be passed down to her children.  In a woman who carries the defective gene, any of her male children will have a 50% chance of having hemophilia A, while any of her female children will have a 50% chance of being a carrier.  All female children of men with hemophilia carry the defective gene.  Genetic testing is available for concerned parents.

Risk factors for hemophilia A include:

  • Family history of bleeding
  • Being male

Rarely, adults can develop a bleeding disorder similar to hemophilia A.  This may happen after giving birth (postpartum), in people with certain autoimmune diseases such as rheumatoid arthritis, in people with certain types of cancer (most commonly lymphomas and leukemias), and also for unknown reasons (called "idiopathic").  Although these situations are rare, they can be associated with serious, even life-threatening bleeding.

Everyone inherits two sex chromosomes, X and Y, from his or her parents.  A female inherits one X chromosome from her mother and one X chromosome from her father (XX).  A male inherits one X chromosome from his mother and one Y chromosome from his father (XY).  The gene that causes hemophilia is located on the X chromosome.

A woman who gives birth to a child with hemophilia often has other male relatives who also have hemophilia.  Sometimes, a baby will be born with hemophilia when there is no known family history.  This means either that the gene has been "hidden" (that is, passed down through several generations of female carriers without affecting any male members of the family) or the change in the X chromosome is new (a "spontaneous mutation"). 

There are four possible outcomes for the baby of a woman who is a carrier.  These four possibilities are repeated for each pregnancy:
  1.   A girl who is not a carrier
  2.   A girl who is a carrier
  3.   A boy without hemophilia
  4.   A boy with hemophilia 

Signs and tests

If the patient is the first person in the family to have a suspected bleeding disorder, he or she will undergo a series of tests called a coagulation study.  Once a disorder has been identified, other family members will need less testing to diagnose the disorder.

  • Tests to diagnose hemophilia A include:
  • Low serum factor VIII activity
  • Normal prothrombin time
  • Normal bleeding time
  • Normal fibrinogen level
  • Prolonged partial thromboplastin time (PTT)

Hemophilia A
Hemophilia A is the most common type of hemophilia.  It is also known as factor VIII deficiency or classic hemophilia.  It is largely an inherited disorder in which one of the proteins needed to form blood clots is missing or reduced.  In about thirty percent of cases, there is no family history of the disorder and the condition is the result of a spontaneous gene mutation.

Approximately one in 5,000 males born in the United States has hemophilia.  All races and economic groups are affected equally.

When a person with hemophilia is injured, he does not bleed harder or faster than a person without hemophilia, he bleeds longer.  Small cuts or surface bruises are usually not a problem, but injuries that are more traumatic may result in serious problems and potential disability (called "bleeding episodes"). 

Normal plasma levels of FVIII range from 50% to 150%.  There are different levels of hemophilia: mild, moderate, and severe, depending on the amount of clotting factor in the blood:

People with mild hemophilia have 5% up to 50% of the normal clotting factor in their blood.  Most patients usually have problems with bleeding only after serious injury, trauma or surgery.  In many cases, mild hemophilia is not diagnosed until an injury, surgery or tooth extraction results in prolonged bleeding.  The first episode may not occur until adulthood.  Women with mild hemophilia often experience menorrhagia, heavy menstrual periods, and can hemorrhage after childbirth.

People with moderate hemophilia, about fifteen percent of the hemophilia population, have 1% up to 5% of the normal clotting factor in their blood.  They tend to have bleeding episodes after injuries and some without obvious cause.  These are called spontaneous bleeding episodes.

People with severe hemophilia about 60% of the hemophilia population, have <1% of the normal clotting factor in their blood.  They have bleeding following an injury and may have frequent spontaneous bleeding episodes, often into their joints and muscles.

Symptoms

The severity of symptoms varies.  Bleeding is the main symptom of the disease and sometimes, although not always, occurs if an infant is circumcised.

Additional bleeding problems are seen when the infant starts crawling and walking.

Mild cases may go unnoticed until later in life when they occur in response to surgery or trauma.  Internal bleeding may happen anywhere, and bleeding into joints is common.

Symptoms may include:

  • Bleeding into joints, with associated pain and swelling
  • Blood in the urine or stool
  • Bruising
  • Gastrointestinal tract and urinary tract hemorrhage
  • Nosebleeds
  • Prolonged bleeding from cuts, tooth extraction, and surgery
  • Spontaneous bleeding

Treatment

Standard treatment involves replacing the missing clotting factor.  The amount of factor VIII concentrates needed depends on the severity of the bleeding, the site of the bleeding, and the size of the patient.

Mild hemophilia may be treated with desmopressin (DDAVP), which helps the body release factor VIII that is stored within the lining of blood vessels.

To prevent a bleeding crisis, people with hemophilia and their families can be taught to give factor VIII concentrates at home at the first signs of bleeding.  People with severe forms of the disease may need regular preventive treatment.

Depending on the severity of the disease, DDAVP or factor VIII concentrate may be given before having dental extractions or surgery in order to prevent bleeding.

Immunization with hepatitis B vaccine is necessary because of the increased risk of exposure to hepatitis due to frequent blood infusions.

Patients who develop an inhibitor to factor VIII may require treatment with other clotting factors such as factor VIIa, which can help with clotting even without any factor VIII.

In general, small cuts and scrapes are treated with regular first aid:  clean the cut, and then apply pressure and a band-aid.  Individuals with mild hemophilia can use a non-blood product called desmopressin acetate (DDAVP) to treat small bleeds.  Deep cuts or internal bleeding, such as bleeding into the joints or muscles, requires treatment that is more complex.  The clotting factor missing (VIII or IX) must be replaced so the child can form a clot to stop the bleeding. 

Some factor products are made from human blood products such as donated plasma.  Others, called "recombinant factor”, are made in a laboratory and do not use human blood products.  The Medical and Scientific Advisory Council of the National Hemophilia Foundation encourages the use of recombinant clotting factor products because they are safer.  Your doctor or your HTC will help you decide which is right for you.  All factor treatments are injected or infused directly into the veins. 

In cases of severe hemophilia, doctors sometimes recommend giving a regimen of regular factor replacement treatments (a therapy called prophylaxis) to prevent bleeding episodes before they happen. The Medical and Scientific Advisory Council of the National Hemophilia Foundation recommends prophylaxis as optimal therapy for children with severe hemophilia A and B.

Notify your doctor or HTC if your child does not respond to the usual dose of factor.  In rare instances, people can develop an inhibitor, to standard factor treatment.  In the event this occurs, your doctor or HTC will work with you to develop a special plan of care.

Possible Complications

  • Chronic joint deformities may occur from bleeding into joints.  An orthopedic specialist can manage this complication.  However, joint replacement may be needed.
  • Intracerebral hemorrhage is another possible complication.
  • Repeated transfusions may slightly raise the risk for HIV and hepatitis , however, continued improvements in blood screening procedures makes blood products safer than ever.

Expectations (prognosis)

The outcome is usually good with treatment.  Most people with hemophilia are able to lead relatively normal lives.

Patients with hemophilia should establish regular care with a hematologist, especially one who is associated with a hemophilia treatment center.  The ability to have quick and easy access to medical records documenting the patient's history of factor IX levels, factor transfusions (including the type and amount), complications, and amount of any inhibitors can be lifesaving in the event of an emergency.

Complications

Chronic joint deformities may occur from bleeding into joints.  An orthopedic specialist can manage this complication.  However, joint replacement may be needed.

Intracerebral hemorrhage is another possible complication.

Repeated transfusions may slightly raise the risk for HIV and hepatitis , however, continued improvements in blood screening procedures makes blood products safer than ever.

Call your health care provider if:

  • Symptoms of a bleeding disorder develops
  • A family member has been diagnosed with hemophilia A
  • You have hemophilia A and you plan to have children

Exams and Tests

If the patient is the first person in the family to have a suspected bleeding disorder, he or she will undergo a series of tests called a coagulation study.  Once a disorder has been identified, other family members will need less testing to diagnose the disorder.

Tests to diagnose hemophilia A include:

  • Low serum factor VIII activity
  • Normal prothrombin time
  • Normal bleeding time
  • Normal fibrinogen level
  • Prolonged partial thromboplastin time

How can Medical marijuana help Hemophilia A?

It does not really help hemophilia A.  However, it does give relief from most of its symptoms.
(Medical Marijuana, Cannabis, Cannabinoids)  = Symptom Relief from:

  • tight, stiff joints
  • swollen joints
  • headache
  • painful joints
  • painful neck
  • fatigue
  • nausea
  • bruising, swelling in soft tissue and muscle
  • inflammation

Best Strains:  hybrid
Blackberry Kush (I/S), Strawberry Cough (S/I), Lavender (I/S), Silver Afghani (I/S), UBC Chemo x Grapefruit, Blueberry, Dream Queen (I/S)

References



1. Kessler CM. Hemorrhagic disorders: coagulation factor deficiencies. In: Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 180.