Causes and risk factors
Hemophilia is a genetic disorder related to X chromosome. It causes deficiency of blood clotting factors. This coagulation failure occurs due to lack of clotting factors. In hemophilia A there is deficiency of clotting factor VIII. In hemophilia B there is deficiency of IX factor.
Symptoms
On the basis of the clotting factors there are 2 types of hemophilia, Hemophilia A and Hemophilia B. The symptoms of hemophilia are bleeding in joints and soft tissues, pharyngeal bleeding occurs. The person complaints of blood in stools or in urine. There occurs prolong bleeding after vaccination. Minor wounds and cuts also bleed at excess. The bleeding is not profuse but is for prolong period. Weakness, fatigue and swelling and pain in joints are seen. Hemophilia can cause following complications like pharyngeal bleeding can cause airway blockages .Bleeding into bone can cause formation of pseudo cyst. These pseudo cysts can then form large tumors. Arthrodesis can occur.
Investigations and diagnosis
The diagnosis is done on the basis of the symptoms narrated by the patient and investigations advised. At times it is diagnosed after the surgery. Routine blood test, bleeding and clotting time along with VII factor and IX factor levels are done.
Treatment
Usually a patient with mild hemophilia does not show any symptoms; hence in such cases intervention is not needed. Moderate deficiency is treated with replacement of the factors. It is done by replacing the missed factor with the help of injections .In severe cases systemic attention is needed. In cases of acute injury to the joint or affected part RICE is adopted (rest, ice application compression and elevation) Medications like anti fibrinolytic agents or desmopressin acetate is given. All hemophilic patients should have access to the hemophilia factor medications. They should store or carry with them for use in emergencies. Synthetic hormonal preparation has replaced the use of old frozen plasma powders .Newer medications or drugs are also available in mild cases.
Recent update:
Researchers at the UNC School of Medicine and the Medical College of Wisconsin found that a new kind of gene therapy led to a dramatic decline in bleeding events in dogs, it can be effectively used for treating the hemophilic patients.
