Facts about Hemophilia

Hemophilia is one of the most common bleeding disorder, in which the blood does not clot normally. A person suffering from hemophilia, when injured bleeds for a longer duration than a normal healthy individual. There are also chances of re-bleeding at the affected sites. Bleeding, if occurs internally, is a severe life-threatening condition, which can lead to tissue and organ damages. The name hemophilia is derived from the Greek words, haima meaning blood and philia meaning friend.

The blood sample of a hemophilic person shows lack or complete absence of a group of proteins called clotting factors. There are various types of clotting factor, which in association with blood platelets are responsible for normal blood coagulation or clotting. When a blood vessel is injured, the clotting factors and platelets work together to stop bleeding. The overall signs and symptoms of hemophilia may differ based on the clotting factor and also the site of injury or bleeding.

Hemophilia is mostly manifested in males, which is due to its genetic cause. This bleeding disease results due to a disorder in the X chromosome. In females, there are two X chromosomes, meaning that they have a backup X chromosome, even if one is affected. There is only one X chromosome in males; if the X chromosome contains the infected gene responsible for causing hemophilia, then the person is hemophilic.

Females are usually the carriers of hemophilia disease, which may be passed either from the mother or the father. Female carriers may show mild symptoms of bleeding. A hemophilic male inherits the infected X chromosome from the mother. Boys born to a carrier mother have 50 percent chances of having hemophilia disorder. In another case, boys born to a hemophilic father will not have hemophilia, but girls of the latter will be carriers.

Maximum cases of hemophilia are caused due to genetic disorder; whereas others are acquired after birth, may be due to certain illnesses like vitamin K deficiency or other potential reasons. It is estimated that about 30 percent babies born with hemophilia do not have any family history of the condition, meaning that this bleeding disorder can also occur spontaneously. People can also acquire hemophilia due to side effects of drugs and medications.

In general, there are two types of hemophilia, namely, hemophilia A and hemophilia B. In the former case, the clotting factor VIII is present in minimum amount or totally absent; whereas in the latter case, the blood clotting factor IX is present at a very low level. About 90 percent of the total hemophilia cases are of hemophilia A type.

In addition, the condition of hemophilia can be classified as mild, moderate or severe, based on the amount of clotting factor present in the blood. It is estimated that about 60 - 70 percent cases are severe. Those with mild or moderate hemophilia bleeds spontaneously only after a trauma or surgery; whereas, those with severe condition bleeds spontaneously even without trauma.

Though there are some effective treatment options of hemophilia, there is no cure. When injured, some hemophilic patients may require injection of clotting factor in order to arrest bleeding. An expecting mother can undergo fetus test to check whether her child has hemophilia disorder or not. Since fetus tests like amniocentesis and chorionic villus sampling are invasive, one can consult a qualified gynecologist about the pros and cons before opting for any type of fetus tests.