Imagine your small kid bleeding from the nose with blood flow not stopping!

Persons with hemophilia (PWHs) do not have the clotting factor VIII or IX in their blood in required quantity. Deficiency of factor VIII and IX are called Hemophilia A and B respectively. Hemophilia can be mild, moderate, or severe, depending on the level of clotting factor in blood. The recessive mutant genes responsible for these two defects are located on the X chromosome and hence hemophilia occurs only among men. Females who carry the defective gene may not show any symptom. But sons born to such women have fifty percent risk of inheriting the defect. Sisters of a male PWH have a fifty percent probability to be carriers of the defective gene. Marriage of a male PWH and a woman born to a hemophilic father may rarely lead to birth of a girl with hemophilia. Bleeding disorders other than hemophilia are found in both males and females and they are mostly inherited through recessive defective genes on autosomes (chromosomes other than X and Y). However, there are acquired and autoimmune bleeding disorders also for which some individuals may be genetically predisposed. Von Willibrand’s disease is a small group of bleeding disorders which are inherited as autosomal recessive, autosomal dominant or may also be acquired.

One in ten thousand births, the world over, has a deficiency of factor VIII. Frequency of Factor IX deficiency is one in thirty thousand to one lakh births. India has at least 1.5 lakhs hemophilia and other bleeding disorder patients. We have found out only a small percentage of them because of various reasons. In Kerala there are 1487 cases of factor VIII deficiency, 387 Cases of factor IX deficiency and 374 cases of other bleeding disorders registered with Hemophilia Chapters as on December 31, 2012. There are also persons suffering from deficiency of more than one factor.

The level of awareness of hemophilia and other bleeding disorders is very low among the public. Unfortunately, this is true of some medical practitioners also. Some physicians, surgeons, hospitals and dental surgeons avoid PWHs.

Many people with bleeding disorders have not undergone proper diagnosis. Hundreds of women who carry the defective gene for hemophilia are not aware of this fact about themselves!

Bleeding may occur anywhere in the body for no clear reason. When babies start to walk, they bruise easily. They also bleed longer than usual after an injury, especially in the mouth and tongue. They may bleed for a long time after circumcision. As children grow, spontaneous bleeding becomes more common. Shedding of milk teeth may lead to bleeding in the mouth for days, unless properly managed.

Bleeding affects the joints and muscles. The most common joint bleeds happen in ankles, knees, and elbows. Bleeds into other joints can also happen, including the toes, shoulders, and hips. Repeated bleeding into joint may cause hemophilic arthritis. Hundreds of PWHs have become handicapped because they are very poor and hence could not afford right treatment at right time. Infection in the areas of bleeds may necessitate amputation!

During muscle bleeds, the muscle feels stiff and painful. There may be bruising if the bleed is near the skin. After repeated bleeds, muscles can become weak, scarred, and shorter than normal (sometimes permanently). If nerves are damaged during muscle bleeds, the muscle may become weak or even paralyzed.

Bleeding into the throat may result from infection, injury, dental extractions, or surgery. Throat bleeds cause swelling, as well as difficulty swallowing and breathing. Other bleeds may also be very serious such as bleeds into the eyes, spine, and psoas muscle. Hematuria is common in severe hemophilia.

Bleeding within the head (usually resulting from injury, but not always so) is a major cause of death in hemophilia, especially in children. Head bleeds can cause headache, nausea, vomiting, sleepiness, confusion, double vision, clumsiness, weakness, fits, and loss of consciousness.

Hemophilia can usually be managed by injecting the missing clotting factor (Anti-hemophilic Factor-AHF) into a vein. It is separated from blood. More recently it is manufactured using recombinant DNA technology. This life-saving drug is imported. Treatment is very expensive.

On an average an adult patient requires 1500-2000 units of AHF to treat one bleeding episode. Total hospital expenses for this may come up to Rs. 20,000. Severe hemophiliacs may bleed even twice a week! Treatment of occasional bleeds of a single PWH may exceed Rs. 150,000 annually! Birth of a child with hemophilia may push a middle class family well Below the Poverty Line. There are families with more than three hemophilic children in Kerala.

As most of the patients are form very poor families, they use other blood products such as plasma, cryoprecipitate or sometimes whole blood. Persons with hemophilia may develop inhibitors or antibodies against AHF. If the inhibitors are strong, the usual treatment may become less effective and management becomes much more expensive.

In spite of all blood safety measures taken in our blood banks, many PWHs in India including those from Kerala have contracted transfusion transmitted infections such as HIV, hepatitis B, hepatitis C, cytomegalovirus, malaria, etc. This leads to additional burden to the patient and family.

Every one with hemophilia or any other bleeding disorder should carry information about his/her health, including the type of disorder, treatment needed, and allergies. None of them shall take aspirin or other drugs which may induce bleeding.

At present as in Dec -31-2012’ We are having 417 (PWH) including other bleeding disorder.