Impact-R as Screening Test for Hemophilia A
Thursday, January 5th, 2012Impact-R, a cone and plate analyzer for platelet adhesion and platelet aggregation may be utilised as a screening test for bleeding disorders such as Hemophilia A.
What is Hemophilia A?
Hemophilia A is a blood disorder that causes prolonged bleeding due to a deficiency of blood clotting Factor VIII.
Symptoms are spontaneous bleeding, bruising, blood in the urine, gastrointestinal bleeding, epistaxis, prolonged bleeding from cuts and following surgeries such as circumcision and dental extraction, hemarthroses or bleeding into joints such as the knee. Symptoms may not be apparent in infants but will soon show when the baby starts to crawl or walk. Severity of the symptoms may vary. Major bleeding could be fatal such as those that happen if the patient is involved in a motor vehicular accident or sports-related injuries.
Hemophilia A is a hereditary disorder that is X-linked recessive. The disease manifests only in males because of their single X chromosome, whereas, females have two X-chromosomes. Very rarely, females manifest the disease if both X chromosomes are affected. This happens when the father is a haemophiliac and the mother is a carrier. Affected males mated to non-carriers will have male offspring that do not have the disease and female offspring that are carriers. Carrier females mated to un-affected males will have 50% chance of having male children with the disease and 50% chance of having female children who will be carriers.
The Use of Impact-R
Impact-R could be of use as a bedside screening test in children whose mothers have male relatives that have Hemophilia. It is a simple and rapid test that can determine defects in coagulation affecting platelet function. Studies have to be done, however, to determine the positive and negative predictive value of Impact-R as a screening test for Hemophilia A.