Hemophilia Diagnosis Treatment And Management

A cut, a wound or an injury... anything which leads to release of N blood... can faint many! The sight of blood be it in an injury or in a syringe for testing, always psyches many and a few even faint at the sight of the red coloured oozing liquid! Human body does have a natural mechanism to thwart blood loss during any injury as blood is a very essential fluid connective tissue in the human body and loss of the same beyond certain levels can jeopardise safety and life. Clotting factors are proteins which under ideal conditions aid in healing the wound or source of blood loss.

The process that immediately kicks in during the aftermath of an injury to reduce blood loss is the clotting mechanism which has three essential parts; Smooth muscle contraction to reduce blood flow to the area of injury, platelet plug formation at the site and the final clotting. Successful blood clotting involves a very complicated biochemical process wherein multiple agents like enzymes, calcium ions, platelets, clotting factors and the damaged tissues activate each other in a cascade. Any deficiency or defect in any of the contributing factors in the cascade can adversely affect the clotting process. Clinically, Hemophilia (both A and B), Von Willebrand disease, etc. are the prominent bleeding disorders.

Queen Victoria is documented to be a carrier of Hemophilia and through her daughters it became transmitted to the members of many royal families in Germany, Spain and Russia. The disease was hence also nicknamed as the "disease of kings" or "royal disease". Many others like Mother Teresa and Abraham Lincoln were rumored to be hemophiliacs

WHAT IS IT ALL ABOUT?
Under ideal conditions, all biological cycles as well as their chronology is timed accurately. Pertaining to the bleeding disorder hemophilia, the defect is usually in the clotting factors which bind the entire process of clogging blood loss due to injury. Individuals affected by this condition generally highlight a delayed wound healing picture and experience spontaneous bleeding as well. Superficial bruises, small cuts and wounds become still manageable; but conditions of surgery, internal damage and bleeding, etc. raise severe concerns of multiple organ damage. Internal bleeding is generally seen in the muscles and the joints which if left unattended can cause severe pain and disability. Clinically the condition arises due deficiency in the antihemophilic factor (AHF)/clotting factors.

CLOTTING PROTEINS
These are the essential agents which ensure fibrin clot is formed efficiently to plug the wound and prevent further blood loss. Also called clotting factors, these are essentially 10 in number; Factors, II, V, VII, VIII, IX, X, XI, XII, XIII which bind the fibrin protein with the platelet plug to strengthen the clot. Hemophilia is generally characterised by deficiency in any of the clotting factors and hence the affected undergo serious adversaries when the injury/wound is deep and needs a fibrin clot for healing.

HOW OF HEMOPHILIA
hemophilia is of different types depending on the deficient clotting factor. They can be:
- Hemophilia A -Factor VIII deficiency/Classic hemophilia
- Hemophilia B -Factor IX deficiency/Christmas disease
- Hemophilia C -Factor XI deficiency

The two most common types are hemophilia A and B and majority affected are men, while women end up being carriers as it is a sexlinked disorder. The gene for factor VIII and IX resides in the X chromosome. Hence, in cases, wherein the mother is a carrier and the father normal, there is a 1 in 4 chance of having an affected male child.

The incidence rate is postulated to be 1:10,000 in India and the estimated prevalence is around 50,000 affected. The affected presents hemorrhagic tendencies especially in the joints and soft tissues. Spontaneous mutations may also give rise to hemophilia, the percentage of which is roughly around 30.

SIGNS TO LOOK OUT FOR
The earliest signs of hemophilia can be detected in the early stages of life wherein the child starts moving and gets bruised easily and also bleeds heavily. Also, in case of infants, irritability and unusual bleeding post vaccination can be noted. The most painful complication is its effect in the joints and muscles. Bleeding within the knee causes swelling and development of "Cantaloupe knee". Long term effect of tissue bleeding in the joints can destroy the same. Other general symptoms include:
- Bleeding that does not stop post circumcision
- Blood in urine or stool
- Bleeding from the nose

INDIANS AND HEMOPHILIA
In India, statistics pertaining to prevalence of any genetic disorder is rare except for some on hemoglobinopathies. The Hemophilia Federation of India (HFI) is an NGO which collates data on affected through its nationwide centre network. It is also involved in counseling, patient care, making available treatment products, etc. In comparison to the US, which has a well set hemophilia surveillance system in place, in India, the number of hemophilia A affected is postulated to be around 54,454; while that for hemophilia B is 21,931 (unpublished statistics after adjusting the under diagnosis rate in India in comparison to the US).'

DIAGNOSIS OF HEMOPHILIA
The affected are identified through genotyping analysis as well as identifying levels of various clotting factors in blood. Depending on the levels of different clotting factors % in reference to the normal levels), affected are classified as severe (< 1%), moderately severe (1-5%) or mild hemophilia (5-40%).

Other tests which are popularly recommended for diagnosis include:
- Bleeding time and clotting time
- Partial Thromboplastin time
- Factor VIII activity
- Platelet count and morphology

TREATMENT & MANAGEMENT OF HEMOPHILIA
Being a genetic disorder, either inherited or spontaneous, there is no cure. However, this does not mean there is no light in the tunnel of life for the affected. With awareness and care, every affected can still lead a normal life. Blood transfusion to replenish AHF levels is the primary mode in case of internal or external bleeding in the affected. In case of excessive blood loss, concentrated AHF may also be transfused. Severely affected individuals are recommended replacement therapy with factor VIII for hemophilia A or factor IX for hemophilia B or even fresh frozen plasma.

Complications during therapy and management however need to be taken care of. Transmission of infections like HIV, Hepatitis B and Hepatitis C is rampant during transfusion episodes and need to be taken care of. Another complication during treatment is development of "Inhibitors". These are antibodies developed against the clotting factor that destroy/neutralise the infused factor. The chances of development of these are 10 - 20% in those affected by hemophilia A and 2-3% in hemophilia B affected.

TO CONCLUDE...
More than the disorder, the emotional and financial challenges it poses needs to be addressed. Cost of every transfusion which is the basic management modality needs to be addressed and also the risk of infection transmission. With awareness, pre-natal and premarital testing, even this genetic bane can be abated and won over!