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As a big relief to haemophilia patients, Amrita Hospitals, Kochi introduces Factor VIII (F8) Gene Mutation Identification Test for the diagnosis of hemophilia. Hemophilia A is a hemorrhagic disease that affects about one in 5,000 men. This disease affects both men and women. The disease is manifested by bleeding in the joints. In some cases, internal bleeding can also be life-threatening.

This test include the identification of a well-known mutation Intron 22 inversion which is estimated to affect 45% of the severe Hemophilia patients. A lesser-known mutation intron 1 inversion which affects around 5% of the patients will also be screened during the procedure. Other mutations which account for 50% of the severe HA population in the gene will be identified by sequencing methodology. The identification of a mutation in the F8 gene or genetic assessment of hemophilia is very much important in the identification of female carriers and for providing a prenatal diagnosis in affected families.

The test involves the extraction of DNA from the blood sample. Within four weeks, the test results will be received. Till now, this facility was only provided by hospitals outside Kerala. People in Kerala will no longer have to rely on hospitals outside Kerala for the diagnosis of hemophilia with the introduction of this test in Amrita Hospitals.  

Haemophilia is caused by the deficiency of F8 protein. Factor 8 protein is an important component in the cascade mechanism that effectively controls bleeding from wounds and helps blood clot. Patients with F8 deficiency may experience abnormal bleeding in the joints, and tissues, and delayed wound healing. Recurrent bleeding in such joints can adversely affect a patient's life and further treatment can often be a financial issue for some patients.  

The severity of the disease is identified by quantifying FVIII protein in the blood and the disease is classified as severe, mild, and moderate according to the varying deficiency of FVIII protein. The bleeding severity and frequency have been identified to be increased in severe Hemophiliacs. The deficiency of FVIII proteins that causes HA has been identified to be due to the mutation affecting the F8 gene.