Hemophilia

What is Hemophilia? Hemophilia is a disease during which the body does not have
enough platelets and the blood in the body therefore does not clot correctly. Platelets in our body

help clot blood when the skin is broken. A person with Hemophilia has either very little or

almost no platelets. Therefore, the disease can be fatal, especially if the disease goes unnoticed.

This is a result of hemophilia patients being able to bleed internally easily. Normally what

happens when skin is broken or internal bleeding starts is that the platelets clot the blood to

reduce the amount of bleeding. In the body of a person with hemophilia, the platelets do not clot

the blood and the person begins and continues to bleed profusely. This can result in death

especially if the injury is internal and goes unnoticed. However, there are two types of

Hemophilia, Hemophilia A and Hemophilia B.

Hemophilia A Factor VII deficiency is also known as Hemophilia A. Hemophilia A is

the most common type of hemophilia, and is therefore also called Classic Hemophilia. People

with Hemophilia A have a blood disorder during which the proteins needed to form blood clots

has been either drastically reduced, or is completely missing. People with this disease bleed

faster and more easily than people with the regular amount of platelets. According to the

National Hemophilia Foundation approximately 1 in every 5,000 males in the USA has

Hemophilia. People with Hemophilia A can have mild, mediocre, or severe cases of the disease.

Also according to the National Hemophilia Foundation, people with mild cases of Hemophilia

have five to fifty percent of the normal clotting factor in their blood. People with mild cases of

hemophilia only have issues with their Hemophilia after heavy cases of trauma or surgery.

People with mediocre cases of hemophilia make up fifteen percent of the Hemophilia population

and have only one to five percent of the normal blood clotting factor in their blood. People with
mediocre hemophilia can bleed spontaneously and after bleed profusely after injuries. People

with severe hemophilia (which makes up approximately sixty percent of the hemophilia

population) have one or less than one percent of the normal clotting factor in their blood. These

hemophiliacs bleed profusely without reason, and bleed into their joints. Also, injuries to these

hemophiliacs can be extremely severe and fatal.

Hemophilia B Hemophilia B is also called Factor IX deficiency or Christmas disease

(named Christmas disease after a person diagnosed with the deficiency in the mid 1900’s).

Hemophilia B is a disease in which one of the proteins needed to form blood clots is largely

reduced or missing completely. However, this disease is far less common than Hemophilia A.

Hemophilia B only occurs approximately once for every 25,000 male births in the United States.

A major difference between Hemophilia A and Hemophilia B is that patients with Hemophilia B

do not bleed more than regular people, they tend to bleed longer. Just like people with

Hemophilia A, people with Hemophilia B can have mild, mediocre, or severe cases of

hemophilia. Also like patients with Hemophilia A, patients with Hemophilia B, (according to the

National Hemophilia Foundation) have five to fifty percent of the normal clotting factor in their

blood. People with mild cases of hemophilia B also only have issues with their Hemophilia after

heavy cases of trauma or surgery. People with mediocre cases of hemophilia make up fifteen

percent of the Hemophilia population and have only one to five percent of the normal blood

clotting factor in their blood. People with mediocre hemophilia can bleed spontaneously and

after bleed profusely after injuries. People with severe hemophilia (which makes up

approximately sixty percent of the hemophilia population) have one or less than one percent of

the normal clotting factor in their blood. These Hemophiliacs can bleed into joints or muscles

can cause severe problems and arthritis.

 So What Causes Hemophilia? The cause of Hemophilia is a genetic mutation of
the X chromosome in either male or female. However, Hemophilia is found more dominantly in

males. Nevertheless, many females do carry the recessive trait for hemophilia. During a

pregnancy a female who is the carrier of the genetic mutation of the X chromosome has a fifty

percent chance of passing it down to her son, or daughter. However, hemophilia has also been

known to pop up in families who seem to have no history of the genetic deformity. When a

woman has a child she has the opportunity to pass the recessive trait of hemophilia to a son or

daughter. This can result in one of the following ways:

1. A daughter who carries the gene for Hemophilia

2. A daughter who does not carry the gene for hemophilia.

3. A son who has hemophilia.

4. A son who does not have the gene for hemophilia.

The following diagram shows this:

 How Do I know if I have Hemophilia? Although some people do not know that
they have Hemophilia until an accident, there are ways to detect if you suffer from the disease.

The symptoms of Hemophilia are

– Excessive External or Internal Bleeding

○ Signs of Excessive External Bleeding include

 Heavy nosebleeds that occur often with no apparent cause

 Heavy bleeding from minor cuts

 Bleeding from a cut that stops for a short period of time then

spontaneously begins bleeding again

 Excessive bleeding form minor things such as a cut in the cheek or the

loss of a tooth

○ Signs of Excessive Internal Bleeding Include

 Blood in urination

 Blood in stool ( from the stomach or intestines)

 Swelling from blood in the joints ( if this occurs the joint will be hot to

the touch and painful to bend or move)

– However some internal bleeding can be fatal for hemophiliacs. This is usually

bleeding in the brain.

○ Symptoms of Internal (Brain) Bleeding

 Repeated Vomiting

 Long-lasting painful headaches or neck pain or stiffness

 Sleepiness or changes in energy

 Sudden weakness or clumsiness of the arms or legs and/or difficulty

walking
  Double Vision

 Convulsions or Seizures

How Do You Treat Hemophilia? Hemophilia can be treated with replacement therapy
which is one of the most common ways to treat Hemophilia. During Replacement therapy a

Hemophiliac slowly gets a concentration of the clotting factor VII (for hemophilia A) or clotting

factor IX (for hemophilia B) are slowly dripped into a patient or injected through a vein. The

concentrated mixtures replace the clotting factor that is missing or low in the hemophiliac.

However other types of treatment include Decompression, Anti-fibrinolytic Medicines, and Gene

therapy. Decompression therapy uses a man-made hormone and treats people who have cases of

mild to moderate Hemophilia, but does not treat Hemophilia B, or sever cases of Hemophilia A.

Anti-Fibrinolytic Medicines uses tranesamic and aminocamproic acid in the form if a pill to help

blood clots from breaking down. Gene therapy is undergoing, scientific tests, and although it

hasn’t been approved as an official way of treating Hemophilia, this type of therapy is being

researched in lab and scientific research facilities.

Sources For Information And Images

http://www.nhlbi.nih.gov http://www.nlm.nih.gov/medlineplus/hemophilia.html
http://www.hemophilia.org/NHFWeb/MainPgs/MainNHF.aspx?
menuid=180&contentid=45&rptname=bleeding
http://www.hemophilia.org/NHFWeb/MainPgs/MainNHF.aspx?
menuid=181&contentid=46&rptname=bleeding