Hemophilia Is an Inherited Disorder

HEMOPHILIA is an inherited disorder that limits blood-clotting activity in the body. Usually after a wound, the body starts the process of blood clotting but this ability is impaired in Hemophiliacs and the result is excessive bleeding. While most girls are likely to be the carriers of this disease, it amazingly affects male offspring more often than men. Some believe that only males are affected but that might not be entirely true as we shall discuss later. In cases, where a male is born to a female carrier, the chances of him developing hemophilia are 50%. The male hemophilic would transmit the disease to all his female children but cannot transmit it to his sons making females the sole carriers. There are two well-known types of this disease namely hemophilia a and hemophilia B.

Hemophilia is an inherited disorder that prevents blood from clotting normally. People with hemophilia are at risk for serious and sometimes life-threatening bleeding episodes. Individuals with hemophilia a, the most common of these disorders, are deficient in a specific blood clotting component called factor VIII." (FDA Consumer; 2003)

Hemophilia causes severe problems for the patient when the bleeding is internal or when the wound is deep. In most minor injury cases, blood clotting works like it would in a non-hemophiliac but in other cases, excessive bleeding is accompanied by pain, swelling and sometimes even serious permanent damage. Symptoms appear in toddlers when their joins begin to swell up.

There is still no permanent cure for the disease; however there have been some treatments that help patients in easing of their symptoms. Prior to 1960s, the main treatment included complete blood transfusion or plasma replacement but in 1960s, another much better treatment was discovered. The infected patient could be infused with concentrated clotting factors that was simple procedure and could even be administered at home. However this treatment for all its simplicity and ease turned out to be major cause of concern in 1980s when it was found that most patients were affected with hepatitis or HIV (AIDS) due to contamination in concentrated clotting factor. Because of this, blood donors are now carefully screened and factors donated are given heat treatment to protect recipients from developing other life-threatening diseases. Gene therapy is another method that can help replace defective genes in carriers to protect future generations but this is a highly expensive procedure that not everyone can afford. Hemophilia has a long history and it has been found in members of the royal family of England.

There are some important facts that we should know about hemophilia since they help in dispelling popular myths. Not all forms of hemophilia are caused by deficiency in Factor VIII. While 80% of hemophilic cases are like that, the rest are affected by hemophilia B. that is actually a deficiency in Factor IX.

It is also believed that patients with hemophilia have medical family history of the disease. But that is not entirely true. In almost 1/3 cases of hemophilia, there was no family history found. It is claimed that in these patients, the onset of disease is spontaneous. Some abrupt gene mutation can cause the disease in patients with no family history.

Some claim that this disease only affects males and females can never be hemophilic. This is not true because while the disease in commonly found in males, it does still exists in females in some rare cases. That happens usually when both parents have hemophilic genes which means mother is carrier and father is infected. In that case, the girl is almost 50% at risk of developing hemophilia. In some cases, women can found with hemophilia like condition as low levels of clotting factors cause abnormal bleeding for prolonged period.