Prothrombin deficiency ... (Prothrombin deficiency) - Gen F2

Prothrombin deficiency is a coagulopathy slowing the blood clotting process. People with this condition often have prolonged bleeding times after injury, surgery or tooth extraction. In severe cases of prothrombin deficiency, profuse bleeding occurring after minor or even without injury (spontaneous bleeding) trauma. There may be serious bleeding complications in the joints, muscles, brain or other internal organs. Milder forms of prothrombin deficiency do not involve spontaneous bleeding, and alteration may become apparent only after surgery or after a serious injury.

This process is due to mutations in the F2 gene, located on the short arm of cromosma 11 (11p11). This gene codes prothrombin (coagulation factor II), which plays a critical role in the formation of blood clots in response to injury. Prothrombin is the precursor of thrombin, the protein that initiates a series of chemical reactions to form the blood clot. After injury, clots protect the body closing damaged and thus avoiding the loss of blood vessels. It is believed that thrombin is also involved in cell growth and division, tissue repair, and the formation of new blood vessels.

There are more than 50 mutations in the gene F2 prothrombin deficiency causing gene mutations reduce prothrombin production in cells, thus preventing correct formation of clots in response to injury. Problems with blood clotting can lead to excessive bleeding. Some mutations drastically reduce prothrombin activity and can lead to serious bleeding. Other mutations F2 gene reveals moderate prothrombin activity and thereby bleeds are mild.

Prothrombin deficiency is inherited as an autosomal recessive pattern, which means that both copies of the gene in every cell must have mutations for alteration is expressed. The parents of an individual with an autosomal recessive disease have a copy of the mutated gene, but usually show no signs and symptoms of the disease.

Tests in IVAMI: in IVAMI perform detection of mutations associated with prothrombin deficiency, by complete PCR amplification of the exons of the F2 gene, and subsequent sequencing.

Samples recommended: EDTA blood collected for separation of blood leukocytes, or impregnated sample card with dried blood (IVAMI may mail the card to deposit the blood sample).