What is HEMOPHILIA?
The popular belief is that hemophilia is a disease while it is actually a group of bleeding disorders. The human body has a mechanism to stop the flow of blood from open wounds through clotting agents present in the blood itself. Any interference with the functioning of these clotting factors, the body’s ability to control blood clotting or coagulation is reduced leading to conditions that can be classified under hemophilia.
CAUSES OF HEMOPHILIA
Genetic mutation is the cause of this bleeding disorder and as such there are no preventive measures of this class of diseases. The mutations occur on the genes that code the proteins which in turn control the production of agents responsible for the clotting process. The more severe the symptoms of the disease the earlier it can be diagnosed. The severity varies from person to person and from type to type. Identifying hemophilia is difficult in infants and becomes more apparent if present in one the babies become mobile. Mild cases are especially hard to diagnose until later stages. Internal bleeding also happens especially in the joints.
MEDICATIONS FOR HEMOPHILIA
Desmopressin is a synthetic antidiuretic hormone that mimics the action of vasopressin. It also increases the level of factor VIII and von will brand factor. Some of the adjunctive measures are the use of fibrin glue and desmopressin. It is used as an adjunct in various surgeries and for treating congenital bleeding disorders. For people suffering from factor XI deficiency anti-fibrinolytics, fresh frozen plasma, ideally pathogen activated and factor ZI concentrates are used. Anti-fibrinolytics are especially useful as they are capable of providing coagulation even in people with severe levels of this bleeding disorder.
Drugs like novoseven, benefix, profilnine SD are used to treat hemophilia B and drugs like Advate and Alphanate are used to treat Hemophilia A.
PREVENTION OF HEMOPHILIA
Being a genetically inherited disease makes hemophilia impossible to prevent. The best options available for people are prenatal counseling and genetic analysis to find out the possibility of a child contracting the condition from affected parents.
RISK FACTORS OF HEMOPHILIA
As the cause of hemophilia is genetic in nature the risk factors include the hereditary problem of hemophilia and being male in the family, as males are more prone to deficiency of these blood clotting factors.
SYMPTOMS OF HEMOPHILIA
Hemophilia is characterized by uncommon seepage of blood whether in joints or in the gastro intestinal tract or in the urinary tract. This can be associated with pain in the joints, swelling and general bruising over any part of the body. Unusual location or number of bruises, nosebleeds, painful and swollen joints due to collection of blood in them are some of the symptoms that can be used to identify the occurrence of this bleeding disorder in a person.
TREATMENT FOR HEMOPHILIA
As the main reason for the excessive bleeding is the absence of clotting factors the main way of therapy is replacement therapy. Clotting factor concentrates obtained from purified donor blood can be injected into a patient’s blood stream to replace nonexistent clotting factors. Some of these factors can also be developed in laboratories. The infusion of these concentrates is done along the same lines as blood transfusion. The severity of the condition dictates the kind of therapy to use. With proper training replacement therapy can be done at home. In some cases prophylactic therapy is used where a regular infusion of clotting factors is given so that the level of clotting agents does not go below a certain level thereby preventing bleeding episodes from occurring.
TYPES OF HEMOPHILIA
The major types of hemophilia are based in the clotting factors of the blood that they affect.
- Hemophilia A: Usually affecting females due to the presence of the Hemophilia A gene in the X chromosome this type is due to the profound deficiency of factor VIII that is necessary for normal clotting.
- Hemophilia B: When the coagulation factor IX is deficient in the blood there will be prolonged oozing of blood especially from medical wounds or from scrapes and minor injuries. Bleeding occurs even if the initial bleeding has been stopped.
- Hemophilia C: This is a type of non recessive autosomal disorder with the deficiency occurring in the factor XI.