How are hemophilia A and B diagnosed?

If doctors suspect hemophilia A or B in a young child, they will do some simple lab tests. They will take a blood sample, and measure the amount of Factor VIII and Factor IX in the blood.

• Factor VIII is the protein which is lacking in hemophilia A.
• Factor IX is the protein which is lacking in hemophilia B.

The tests will show:

• if the person has a bleeding disorder
• what kind of bleeding disorder the person has
• how severe the bleeding disorder is.

Hemophilia A and B can be divided into three classifications.

One of the lab tests will show how much Von Willebrand Factor (VWF) is in the blood. Von Willebrand Factor is another of the proteins in the blood which is important for normal clotting. It acts as a glue, sticking platelets to the wall of a broken blood vessel. If the level of VWF is low, then the person has Von Willebrand Disease, not hemophilia A or B.

It usually takes 1 to 2 weeks for test results to come back.

What are the first signs of hemophilia in a young child?

Babies have sharp teeth and bite their gums and tongue, often causing bleeding. This and bruises from falls are usually the first signs of hemophilia.

Until the age of 2, bleeding into joints is uncommon. Most bleeds are surface bruises. When babies are learning to walk, they fall frequently and suffer many bumps and bruises.

Bleeding into the joints, soft tissues and muscles is seen more frequently after the age of two.

What are the symptoms of hemophilia in an older child or adult?

Common symptoms of hemophilia are:

• bleeding into joints (knees, elbows, ankles, shoulders, hips, wrists in descending order of frequency)
• bleeding into soft tissues and muscles (the ileopsoas muscle around the hip, calf, forearm, upper arm, Achilles tendon, buttocks)
• bleeding in the mouth from a cut, bitten tongue or loss of a tooth (especially in children)
• blood in the urine (hematuria)
• surface bruising.

Why Do Kids Get Hemophilia?

Hemophilia almost always affects boys. Why? Because the disease is an X-linked genetic disorder, passed from mother to son. Boys get an X chromosome (say: kro-muh-soam) from their mother and a Y chromosome from their father. If the mother carries the gene for hemophilia on one of her X chromosomes (girls have two X chromosomes), each of her sons will have a 50% chance of having hemophilia. 

A mother who is a carrier also has a 50% chance of giving the faulty X chromosome to her daughter. That does not give the daughter the hemophilia disease, but it does result in the daughter becoming a hemophilia carrier. So it's possible one of her sons someday could have the disease.

Comprehensive hemophilia care

What is comprehensive hemophilia care?

Comprehensive hemophilia care is: all of the medical services needed by a hemophiliac and his family for the treatment of hemophilia and related conditions. This care is provided at a comprehensive care clinic.

This is a place where a person with hemophilia or a bleeding disorder can receive all the care he / she needs at one time. It is called a comprehensive care clinic because it offers a complete range of services.

The following people work there:

• the Medical Director: He / she is often a hematologist who specializes in the area of blood clotting
     He / she:
• does the lab tests to find out the exact bleeding problem
• prescribes the proper treatment to control and prevent bleeding
• monitors the overall health of the hemophiliac.
• the Nurse Coordinator He / she is the front-line person in the clinic.
• helps families deal with the day-to-day problems related to hemophilia
• answers families' questions over the phone or at the clinic
• provides out-patient care at the clinic
• teaches families how to do home therapy. (See "What is home care?")
• organizes the delivery of blood products for home use
• coordinates appointments with other members of the comprehensive care team.
• the Physiotherapist
• checks the hemophiliac's joints and muscles to make sure joint movement is not lost and that muscles remain strong
• helps the hemophiliac with exercises to regain lost joint function or to rebuild muscles
• helps the hemophiliac to find a sports and exercise program to keep him in top shape.
• the Dentist:
• provides dental care
• works closely with the hematologist to prevent bleeding during dental work.

The comprehensive care team will add other individuals as needed:

• an obstetrician / gynecologist (to help women with bleeding problems)   
• a social worker (to help families deal with the stresses of hemophilia)
• a genetic counsellor (to give information to carriers)
• an orthopedic specialist (for joint problems and joint surgery)
• an HIV specialist (for treatment related to HIV infection)
• a hepatologist or gastroenterologist (for treatment related to hepatitis C infection).

What is home care?

Home care is the infusion of factor concentrates at home. In Canada most severe hemophiliacs are treated at home. This has major advantages over treatment at the hemophilia clinic or at the emergency room. These are:

• quicker treatment when a bleed starts
• a more normal life for the hemophiliac and other members of the family
• a greater acceptance of treatment by the young child
• the ability for people to take care of their own health.

The comprehensive care clinic team trains the family with a young hemophiliac how to recognize bleeds and then how to infuse the factor concentrate. Children often learn how to infuse themselves at the age of eight or ten. Then, the hemophiliac is able to treat himself at home, at CHSool, at camp or on vacation.

Hemophiliacs on home care go to the comprehensive care clinic once or twice a year for a complete check-up.

2. Factor replacement therapy

What is factor replacement therapy?

The basic treatment to stop or prevent bleeding in people with hemophilia A and B is factor replacement therapy. This is the infusion (injection into the bloodstream) of Factor VIII and IX concentrates to prevent or control bleeding.

These concentrates come from two sources:

• human plasma (a component of blood) or
• a genetically engineered (artificial) cell line made by DNA technology.

In both cases, the Factor VIII or IX protein is nearly identical to the protein which is lacking in the blood of hemophiliacs. After an infusion of the concentrate, all the proteins needed for clotting are in place. A hemophiliac's blood becomes "normal", at least for a few hours. This allows the time for a clot to form at the site of the damaged blood vessel.

Unfortunately, the replacement of the missing clotting factors is not permanent. Half of the clotting factor activity which was infused is removed by the body every 24 hours. This means that within 3 days almost none is left. The hemophiliac's blood is again unable to clot normally.

How often are factor concentrates given?

Depending on the person, factor concentrates are given:

• every day
• several times a week
• several times a month
• only in cases of an accident or surgery or
• almost never.

The hemophiliacs who receive factor concentrates the most often are:

• severe hemophiliacs
• children who are very active
• hemophiliacs on prophylaxis therapy.

3. Other treatments

What other treatments are helpful to treat bleeding in hemophilia A and B?

Desmopressin

Desmopressin is a synthetic drug which is a copy of a natural hormone. Desmopressin is not made from blood. Desmopressin is useful in treating people with mild or moderate hemophilia A. It is of no value for people with severe hemophilia A or with any type of hemophilia B.

It acts by releasing Von Willebrand Factor stored in the lining of the blood vessels. Von Willebrand Factor is another protein which is important in blood clotting. One of its roles is to transport Factor VIII in the bloodstream. Doctors think that by increasing Von Willebrand Factor levels, more Factor VIII is brought to the site of damaged blood vessels.

Desmopressin can be taken in three different ways.

• It can be injected into a vein. Most often, the brand name for this kind of desmopressin is DDAVP.
• It can be injected under the skin. The brand name for this kind of desmopressin is often Octostim.
• It can be taken by nasal spray. The brand name of the nasal spray is often Octostim Spray.

Desmopressin is usually effective for mild and moderate hemophiliacs. However, different people respond to desmopressin in different ways. Therefore, a doctor needs to do tests to find out each individual's response to the drug. Ideally, these tests are done before any urgent need for the drug, such as surgery.

Desmopressin can sometimes have some mild side effects. These are:

• facial flushing
• mild headache
• nausea and abdominal cramps..

Desmopressin can make the body retain water. Therefore, doctors recommend that after receiving desmopressin people drink only enough fluid to satisfy thirst.