Hemophilia - A/B Prenatal diagnosis Test

Hemophilia is characterized as a hereditary condition. Hereditary simply means that the condition or the disorder has been transferred to or passed to the child from his mother during conception. In this condition, the person’s blood doesn’t undergo the process of clotting. As a result, a hemophilic person bleeds for a longer time unlike other people. It is a myth that hemophilics bleed profusely. External injuries really don’t matter but when vital internal organs like the brain bleed, the life of the person is critical. Hemophilia A and B are rare blood disorders. They differ from each other in minor aspects. Hemophilia A affects 1 in 1000 people whereas the condition of Hemophilia B affects 1 in 50,000 people.

The patient undergoes coagulation screening tests along with a number of other tests. The condition can be prevented if the family undergoes a genetic test. This test identifies the carrier in the family since the carrier is asymptomatic and cannot be identified visually. The doctor takes a blood sample and studies it. You might want to ask the doctor about the diet you should be following for a suitable number of days before the test. Different labs have different requirements. It is wise to clear your doubts before the test and discuss with your doctor everything related to it to avoid unexpected problems in the future.

The test helps in determining the carrier in the family. The test is a combination of coagulation tests and mixing studies which are usually applied in the 1:1 ratio. A patient’s aPTT can be determined and repaired by using pooled plasmas that get donated by a healthy patient. It helps in determining which category of Hemophilia prevails in the carrier.

A blood sample is taken, used for different tests and studied. A number of coagulation tests and techniques are performed over the sample. The activated partial thromboplastin time (aPTT) is prolonged or dragged in hemophilic patients which is not the case in normal people. This time indicates if the person is a carrier or not. If the patient has a prolonged or dragged aPTT, a set of other tests called the mixing studies are performed. The patients aPTT ID then studied by carrying out an accurate evaluation by plasma taken from a healthy donor. The type and severity of the deficiency can be detected by using various factor assays like FVIII and FIX. The above process is performed in a specialized and equipped coagulation laboratory.