Haemophilia is a rare bleeding disorder in which the blood does not clot normally.Haemophilia is caused by missing clotting protein in the blood. A person suffering from Haemophilia can bleed profusely even under a slight injury or cut or with out any injury. Internal bleeding also occurs in this rare disease, especially at the brain,knees, ankles, elbows and ends up damaging one’s joints and musculoskeletal system.Brain bleed can be life threatening. Thus the life and quality of life is at stake for Patient With Hemophilia (PWH).
An inherited disease means, the disorder is passed from parents to children through their genes. People born with Haemophilia have little or no clotting factor. Haemophilia is X- chromosome linked disorder. This means that Female carries the disease as she has one Normal X-chromosome and one Abnormal X-chromosome. One Normal X-chromosome protects the female.Females generally do not suffer from Haemophlia and they are called CARRIERS. On the other hand male has XY- chromosomes.Thus if male gets Abnormal X-chromosome from mother he becomes PATIENT. Thus affected person is MALE.Very rarely female patient can be born with Haemophilia.
Clotting factor is a protein needed for normal blood clotting. There are several types of clotting factors. These proteins work with platelets to help the blood clot. Platelets are nothing but small blood cell fragments that are formed in the bone marrow and play a major role in blood clotting. When blood vessels are injured, clotting factors with help of platelets form a clot to plug cuts and breaks on the vessels, thus stop bleeding.
Hemophilia has type A,B or C. Factor 8 deficiency is Haemophilia A,9 deficiency is B and 11 deficiency is C. Incidence of Haemophilia A is 1 per 10000 population. Haemophilia B is 1 per 40000 population and Haemophilia C is extremely rare. With WFH around 500,000 patients are registered. Haemophilia Federation of India ( HFI ) is a Indian PWH association. Around 19000 PWH are registered with HFI. India is a country with 1.2Billion population,so we should have 120,000 PWH in the country. This means that only 15% PWH we have diagnosed and many patients are still undiagnosed. We need to improve our diagnostic abilities in the country if we have to effectively treat our PWH
As mentioned above there are two types of Haemophilia’s – A and B, 83% cases are of type A whereas 17% are of type B. Each type is related to a presence of certain clotting factors in one’s blood. Haemophilia A is the more common type and is linked to low levels of clotting factor 8. Haemophilia B is rarer and is associated with low levels of clotting factor 9. Haemophilia is diagnosed by taking a blood samples and testing the levels of clotting factor 8 or 9 in them.
Types of Severity of Hemophilia -
1) Severe – Factor level less than 1%
2) Moderate- Factor level 1-5 %
3) Mild – Factor level 5-30%
Severe forms of hemophilia have average 20 Spontaneous bleeds per year and if not protected have major disabilities and crippled joints.Modearte and Mild PWH bleed with trauma or injury and spontaneous bleeding is rare.

Treatment of bleeding or prevention of complications is by replacing missing clotting factors. Factors are produced from Plasma ( Plasma derived ) or by Recombinant Technology. These products are very expensive and act only for 12 -18 hours,thus requiring multiple injections. If we have to adequately treat 20 kg child with Haemophilia then we need approximately 30000 units of factor per year ie.Rs 600000/- per year .

The treatment of Haemophilia mainly depends on the severity and the type involved (A or B) and involves the ‘clotting factor replacement therapy’ to control the bleeding. There are two approaches in the clotting factor replacement therapy –
1) On Demand / Episodic replacement therapy
2) Prophylactic / Preventive replacement therapy
In ‘On demand approach’,is giving treatment to stop bleeding when it occurs. This is more common in the management of patients with mild or moderate Haemophilia. Where as in preventive treatments medication is mainly focused on keeping the factor level more than 1%and preventing the bleeding episodes, and subsequent complications, such as joint and/or muscle damage. Preventive treatment is more commonly used for patients with severe Haemophilia.

Prevention of Birth of PWH is very important and effective. Female members of PWH family should be screened for carrier state for Haemophilia.Carrier female should undergo Ante natal diagnosis for Haemophilia on the Foetus in 10th week of pregnancy.

Some times PWH will need surgery and after Prevention of Birth of PWH is very important and effective. Female members of PWH family should be screened for carrier state for Haemophilia.Carrier female should undergo Ante natal diagnosis for Haemophilia on the Foetus in 10th week of pregnancy. Surgery in a patient with bleeding disorder is extremely challenging and should be done in a proper set up.

Rarely, Haemophilia can be acquired.It means that even if you are not born with the disorder, you can develop it during your lifetime. This can happen if your body forms antibodies which are the form of protein that attack the clotting factors in your bloodstream. These antibodies prevent the clotting factors from working, hence the person ends up acquiring Haemophilia. Cancers ,extreme oldage and Pregnancy is associated with this.

Sahyadri Hospital Deccan Gymkhana has a special department dedicated to Haematology & Bone Marrow Transplant. This unique department treats many patients suffering from various blood diseases including Blood cancers, clotting and bleeding disorders, Haemophilias and Thalassemeias. Backed by an efficient Blood Bank with component separation facilities and highly advanced Haematology laboratory along with a special unit specifically designed for Bone Marrow Transplantation, this department is fully equipped to diagnose and treat common and uncommon diseases of the blood.Many surgeries are performed for PWH over last 15 years