What is Haemophilia

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Haemophilia is an inherited hemorrhagic blood disorder. The defect lies in the clotting mechanism of the blood and is characterised by a life long tendency to excessive internal or external hemorrhage.

This blood disorder can be classified into three kinds, Haemophilia ‘A’ is due to the deficiency of factor VIII. Haemophilia ‘B’ also known as Christmas disease is due to the deficiency of factor IX. The third kind ‘C’ is due to the deficiency of factor XI. One more related disease called Von Willie Brand’s is due to the deficiency of VW antigen deficiency.

symptoms of haemophilia

Courtesy: CSL Behring US

symptoms of haemophilia

Patients with Haemophilia very often have internal or external bleeding. It can be spontaneous or can occur on trauma. Symptoms include gum bleeding, bleeding from nose, bleeding in large joints of the elbows, knees, ankles and shoulder joints, bleeding in urine, bleeding in stool and bleeding in the brain. The bleeding mostly occurs in the large joints.


If Haemophilic patients remain untreated, the result would be prolonged excessive bleeding which may prove fatal and cause severe anaemia. Bleeding in joints causes severe deformities of joints, flexion/extension deformities, weakness of legs, shortening of leg that can lead to crippling. Bleeding in the brain and abdomen are very dangerous and may cause death.

healthcare treatments

Both Haemophilia “A” and Haemophilia “B” are treated by replacing the missing clotting factor, the commonest source is human blood plasma. Hemophiliacs are also treated with synthetic factor VIII, which has been produced by using a technique called Recombinant technology r plasma derived factor concentrates.

Once joint bleed stops by factor replacement therapy, patients are recommended physical Therapy and rehabilitation to avoid joint deformity. Physiotherapy plays an important part in patient’s treatment and every effort is made to enable him to return to his routine work.

haemophilia treatment in Pakistan
Cost of Treatment

Cost of treatment varies with degree of deficiency from mild to severe. To avoid joint deformities, these patients requires factor concentrates for immediate treatment. This is because blood components are not sufficient to replace the missing factor optimally.

All Centres of Fatimid Foundation are equipped to make various blood components itself, which includes cryoprecipitate (factor I & VIII), cryosupernatant (factor IX and other factors) , platelet concentrate and therefore are able to provide the above cost out of its own fund raising resources.

Fatimid Foundation shoulders the responsibility of treating over 3,600 registered underprivileged hemophiliac patients free of charge and therefore requires substantial government support to subsidize this cost.



The immediate process of stopping bleeding after injury is known as hemostasis and involves three events which are: blood vessel spasm, the formation of the platelet plug and the blood clot formation process; known as blood coagulation. Clotting of the blood occurs only when thrombin converts fibrinogen to fibrin clot.

Haemophilia A and B are conditions in which males are affected and it occurs when there are low levels of clotting factors in your blood. It causes heavy or unusual bleeding into the joints and other deep tissues. Von Willebrand’s disease is another common inherited bleeding disorder. It develops when the blood lacks von Willebrand factor, which helps the blood to clot. If the bleeding is superficial , then platelet function defect is suspected.

Clinicians frequently order coagulation tests, such as the prothrombin time (PT), activated partial thromboplastin time (aPTT), and correction studies to assess blood clotting function in patients. If platelet function defect is suspected then platelet count and bleeding time is advised. Depending on the history, physical examination and the results of screening tests, further tests such as factor assay or platelet function test are advised. Laboratory tests for hemostasis typically require citrated plasma derived from whole blood.

A coagulation profile includes bleeding time, platelet count, PT, APTT and thrombin time. It is a screening test for abnormal blood clotting because it examines the factors most often associated with a bleeding problem. It does not cover all causes of bleeding tendencies.

Haemophilia is diagnosed with blood tests to determine if clotting factors are missing or at low levels, and which ones are causing the problem. If you have a family history of haemophilia, it is important that your doctors know the clotting factor your relatives are missing.

Haemophilia A results from too little of a plasma protein called factor VIII, which helps blood clot. The greater the deficiency, the more severe the symptoms. Most people who have haemophilia A have moderate or severe symptoms.

Without proper treatment, haemophilia is crippling and often fatal. With modern treatment, most people with Haemophilia can lead full, active lives. Haemophilia is classified as severe, moderate or mild.

The bleeding symptoms arise because blood clotting is impaired. Haemophilia A is caused by a mutation in the gene for factor VIII, so there is deficiency of this clotting factor. Haemophilia B (also called Christmas disease) results from a deficiency of factor IX due to a mutation in the corresponding gene.

Factor VIII (FVIII) is an essential blood-clotting protein, also known as anti-hemophilic factor (AHF). In humans, factor VIII is encoded by the F8 gene. Defects in this gene result in hemophilia A, a recessive X-linked coagulation disorder.

A platelet plug is formed, and the external bleeding stops. Next, small molecules, called clotting factors, cause strands of blood-borne materials, called fibrin, to stick together and seal the inside of the wound. Eventually, the cut blood vessel heals and the blood clot dissolves after a few days.