Hemophilia

Hemophilia is an inherited condition in which there are inadequate clotting factors, it is a rare condition in which the blood does not clot normally.  As a result, there may be unexpected bleeding, discomfort, swelling or tightness in the joints, blood in the urine or stool and nasal bleeding. 

Low amount of clotting factor VIII or clotting factor IX are present in those with hemophilia.  The quantity of clotting factor in the blood determines how severe is hemophilia. In hemophilia, there is a low level of clotting factors, the bleeding is more likely to happen, which can cause major health issues. 

Hemophilia,  in extremely rare circumstances can develop later in life. In most cases, middle-aged or elderly persons are involved, as well as young women who have recently delivered a baby or are in the final stages of pregnancy. With the right care, this condition frequently gets better. 

Causes of Hemophilia

A gene that codes for the clotting factor proteins necessary to create a blood clot is altered or mutated in hemophilia which results in the disorder. A clotting protein that has undergone this alteration or mutation may not function at all or may function improperly. On the X chromosome, these genes are situated. 

There are numerous genes on the X chromosome that are absent from the Y chromosome. As a result, although females have two copies of the majority of X chromosome genes, males only have one copy. Therefore, if a male inherits an X chromosome that has a mutation in either the factor VIII or factor IX gene, they may develop a disease hemophilia. Hemophilia can also affect women, however this is less common. In these situations, either both of the X chromosomes are affected or one is affected while the other is absent or inactive. These females may experience bleeding symptoms similar to hemophiliac males. 

Types of Hemophilia

• Hemophilia A (Classic Hemophilia)
• Hemophilia B (Christmas Disease) 

Symptoms of Hemophilia 

• Bleeding joints. This can cause joint swelling, pain or tightness. It commonly affects elbows, knees and ankles. 
• Frequent nose bleeding that are difficult to control. 
• Blood in urine and stool. 
• Head bleeding in infants after dystocia
• Bruising and Hematoma
• Bleeding of the mouth and gums and bleeding that is hard to stop after losing a tooth.
• Post-circumcision bleeding

Treatment

The perfect approach to treat hemophilia is to replace the missing blood clotting factors so that the blood can clot properly. This is done by infusion (given intravenously) of commercially manufactured factor concentrates. People with hemophilia can gain knowledge of self-administering these infusions, thus stopping bleeding episodes and even prevent most bleeding episodes with regular intravenous drips (called prophylaxis).