Hemophilia A - Inversion 1 and 22 Test Cost & Procedure

The blood clotting process is slowed down by haemophilia, a bleeding disorder. Following an injury, surgery, or tooth extraction, individuals with this syndrome have protracted bleeding or oozing. Continuous bleeding happens after minimal trauma or even when there is no evident injury in severe haemophilia sufferers (sometimes called spontaneous bleeding). Bleeding into the muscles, brain, joints, or other internal organs can lead to serious consequences. Hemophilia is a condition that can cause irregular bleeding after surgery or a serious injury, however milder variants of the disease may not always cause spontaneous bleeding.

Frequency

The frequency has increased.

Males than females are far more likely to have one of the two main types of haemophilia. The most prevalent form of the ailment is haemophilia A, which affects 1 in 4,000 to 1 in 5,000 males globally at birth. Around the world, 1 in 20,000 newborn boys have haemophilia B.

Causes

The causes have been widened.

Hemophilia A is brought on by changes in the F8 gene, while haemophilia B is brought on by changes in the F9 gene. A protein known as coagulation factor VIII is produced using instructions from the F8 gene. The F9 gene results in the production of coagulation factor IX, a similar protein. Proteins called coagulation factors collaborate to cause blood to clot. Blood clots shield the body against excessive bleeding after an injury by closing off damaged blood vessels.

The creation of an aberrant form of coagulation factor VIII or coagulation factor IX, or a reduction in the amount of one of these proteins, is caused by variations in the F8 or F9 gene.

Useful For

Specifying haemophilia A carrier grade for at-risk women, i.e., individual with a family past of severe haemophilia A due to F8 intron 22 inversion First-tier molecular experimenting for gents affected with severe haemophilia A when a familial intron 22 inversion has already been investigated.

Testing Algorithm

For every sample of cord blood, maternal cell contamination tests will be done. This test also needs a sample of maternal whole blood and a blood sample request for MATCC/Maternal Cell Contamination, Molecular Analysis.