Hemophilia?

Question

What is it? How do you test for it? What is the life expectancy of a person with Hemophilia? Does it result in death? Who does the disorder effect? Is there a cure or treatment? Thanks a lot.

Answer 1

Haemophilia or hemophilia is the name of several hereditary genetic illnesses that impair the body's ability to control bleeding, an impairment known technically as bleeding diathesis. Genetic deficiencies and a rare autoimmune disorder may cause lowered plasma clotting factor activity so as to compromise blood-clotting; when a blood vessel is injured, a scab does not form and the vessel continues to bleed for an excessive period of time. The bleeding can be external, if the skin is broken by a scrape, cut or abrasion, or it can be internal, into muscles, joints or hollow organs. The result may be visible (e.g., skin bruises) or subtle (e.g., melena, hematuria, or bleeding in the brain).

Treatment
Though there is no cure for haemophilia, it can be controlled with regular injections of the deficient clotting factor, i.e. factor VIII in haemophilia A or factor IX in haemophilia B. Some haemophiliacs develop antibodies (inhibitors) against the replacement factors given to them, so the amount of the factor has to be increased or non-human replacement products must be given, such as porcine factor VIII.

If a patient becomes refractory to replacement coagulation factor as a result of circulating inhibitors, this may be overcome with recombinant human factor VII (NovoSeven®), which is registered for this indication in many countries.

In western countries, common standards of care fall into one of two categories: prophylaxis or on-demand. Prophylaxis involves the infusion of clotting factor on a regular schedule in order to keep clotting levels sufficiently high to prevent spontaneous bleeding episodes. On-demand treatment involves treating bleeding episodes once they arise.

As a direct result of the contamination of the blood supply in the late 1970s and early/mid 1980s with viruses such as Hepatitis and HIV, new methods were developed in the production of clotting factor products. The initial response was to heat treat (pasteurize) plasma-derived factor concentrate, followed by the development of monoclonal factor concentrates which use a combination of heat treatment and affinity chromatography to inactivate any viral agents in the pooled plasma from which the factor concentrate is derived. The Lindsay Tribunal in Ireland investigated, among other things, the slow adoption of the new methods.

Since 1993(Dr. Mary Nugent), recombinant factor products (which are typically cultured in Chinese hamster ovary (CHO) tissue culture cells and involve little, if any human plasma products) have become available and are widely used in wealthier western countries. While recombinant clotting factor products offer higher purity and safety, they are, like concentrate, extremely expensive, and not generally available in the developing world. In many cases, factor products of any sort are difficult to obtain in developing countries.

Answer 2

Haemophilia or hemophilia is the call of countless hereditary genetic ailments that impair the physique's skill to regulate bleeding, an impairment prevalent technically as bleeding diathesis. Genetic deficiencies and a uncommon autoimmune ailment would reason diminished plasma clotting ingredient interest with the intention to compromise blood-clotting; whilst a blood vessel is injured, a scab does not sort and the vessel keeps to bleed for too much time. The bleeding would be exterior, if the exterior is broken by skill of a scrape, cut back or abrasion, or that's inner, into muscle tissue, joints or hollow organs. the end result may well be seen (e.g., dermis bruises) or diffused (e.g., melena, hematuria, or bleeding interior the suggestions). it is termed the lack of ability of clotting aspects - Haemophilia A has a loss of the clotting aspects 8 - and Hemophilia B has a loss of the clotting aspects 9 - Hemophilia A happens in ninety% of situations

Answer 3

It is a serious, life long bleeding disorder inherited as an X-linked recessive disorder, trnsmittted from female carriers and effects male offspring in 1 in 10,000 male births. Type A is caused by a deficiency in factor VIII which is a necessary component of blood coagulation. Normally diagnosed at infantcy. In toddlerhood, children typically tend to have more oral bleeding and bruising., by age 4 90% of these boys have demonstrated persistant bleeding from minor lesions.most frequent types of internal bleeding occur within the jointss (hemarthrosis) and muscles. Pain intensifies as bleeding continues to the point where the child refuses to use the effected joint, recurrent episodes lead to bone deformities with resulting contractures and crippling. Intracranial hem orrage either spontanious or secondary to head trauma, is life threatenning and accounts for the most of hemophilic deaths than any other bleeding. There are no cures, but signs and symptoms can be controlled. normal life expectancy other than in bleeding deaths. Those who have been treated before 1989 have a 60% chance of having contracted HIV because of lack of purification techniques for factor VIII concentrate

Answer 4

Hemophilia is a hereditary disease characterized by greatly prolonged coagulation time. It is cause by a deficiiency of a factor in plasma, refered to as factor VIII, antihemophilic globulin. There is no cure for this disease, Treatment is by the use of lyophilized Factor VIII. Vitamin K is also used from time to time.