World Hemophilia Day

Hemophilia is a rare disorder where the blood doesn’t clot normally as it lacks sufficient blood clotting proteins. The condition is present from the birth and is normally inherited. A person with hemophilia will bleed for a longer time after an injury. Hemophilia is a lifelong and incurable disease that can only be managed by use of certain medicines. Every year April 17th is observed as World Hemophilia Day. This specific day is designed to build public awareness about hemophilia and other bleeding disorders among the common mass.

Hemophilia is caused by a genetic mutation. The mutations involve genes that code for proteins that are essential in the blood clotting process. The bleeding symptoms arise because blood clotting is impaired. Hemophilia has two specific conditions known as hemophilia A and hemophilia B which are distinguished by the specific gene that is mutated (altered to become defective) and codes for a defective clotting factor (protein) in each disease. Hemophilia A and B are inherited in an X-linked recessive genetic pattern and are therefore much more common in males. Rarely, hemophilia C (a deficiency of Factor XI) is encountered, but its effect on clotting is far less pronounced than A or B.

Mostly, patients with hemophilia have a known family history of the condition. In case of those patients without a family history, spontaneous mutation in the affected gene is responsible. A series of blood tests can identify which part or protein factor of the blood clotting mechanism is defective if an individual has abnormal bleeding episodes. The platelet count and bleeding time test along with prothrombin time (PT) and activated partial thromboplastin time (aPTT) are mandatory in this regard.    Nowadays, genetic testing to identify and characterize the specific mutations responsible for hemophilia in specialized laboratories is also common. According to Dr A. Karthikeyan, Consultant Hematologist, Fortis Malar Hospital, Chennai,”Awareness is one aspect which is worrying for hemophilia. There are so many misconceptions too.  Whenever there is an injury in childhood, it needs to be seen whether there is incessant blood loss or not. The abnormality in blood loss can help to identify hemophilia at an early stage and help in possible treatment.”

Replacement of the blood clotting factors is the primary treatment of hemophilia. Clotting factor concentrates can be purified from human donor blood or made in the laboratory using methods that do not use donor blood. This type of therapy is known as replacement therapy. Clotting factor replacement therapy is carried out by infusing the clotting factor concentrates into a vein, similar to blood transfusion. Meanwhile, a major complication of treatment is the development of so-called inhibitors to the clotting factors. Inhibitors or antibodies are produced because the body sees the factor concentrates used to treat patients to reduce or prevent bleeding, as foreign and activates an immune response in the patient to destroy the foreign substances (factor VIII or factor IX). Gene therapy treatments are a source of active research and hold promise for the future.