Blood Clot Disorders That Are Genetic

Prothrombin Gene Mutation

This blood clotting disorder involves a genetic defect which causes overabundance of a blood clotting protein known as prothrombin, also called Factor II. This disorder usually causes clots in the veins.

Children with this disorder have at least one gene that is affected. It is quite uncommon for a child to have both the genes affected by this.

Prothrombin is essential for normal clotting of blood and to stop bleeding in case of cuts. Children who have this disorder, tend to have too much of prothrombin that makes their body to produce more number of blood clots than required.

A person's chances of forming more clots increase when he or she has contracted a serious medical condition or has an undiagnosed autoimmune disease. The risk also increases when one is on birth control (such as oral contraceptives).

• Antithrombin Deficiency

A natural protein, antithrombin helps in the prevention of blood clots. Deficiency of this in the body can cause blood clots in an abnormal way. The occurrence of this disorder is dependent on how much of this natural protein a person has.

When a child is diagnosed with this disorder, he would be treated in the following ways:

• Through blood thinners: These are sufficient to treat and prevent occurrence of abnormal blood clots.
• Through antithrombin-containing factors - this can be either synthetic (in man-made form) or blood-derived

However, this disorder is quite uncommon (found in less than 1 per cent of the population).

• Factor V Leiden

This is the most common blood clotting disorder. Most of the people with this condition have one normal gene and one affected gene. Rarely a child has both the genes affected.

Factor V, a protein, helps in the clotting of blood. When this disorder is present, a child's body is unable to turn this factor V off resulting in too much blood clotting. When a child has one affected gene, the chances of having blood clots almost increase by 10 times.

However, studies have shown that usually a child with this disorder does not get a clot during the childhood years or even during adulthood. The chances of having blood clots increase once there is some serious illness or an undiagnosed autoimmune disease.

Use of birth control pills also increases the effects of having blood clots in an abnormal way due to the presence of this disorder.

Protein C and Protein S Deficiency

This is quite an uncommon form of blood clotting disorder (found roughly in less than 1 per cent of the population). Clinical symptoms usually begin to develop during early adulthood. The person remains at the risk of having abnormal blood clots throughout his life.
Protein C and protein S are meant to work together in one's body to prevent the occurrence of blood clots. Not having enough of either protein can lead to this disorder. When protein C or protein S deficiency is inherited, the chances of getting a blood clot increase about 10 to 20 times. The condition usually begins to show effect only after one has crossed his or her teen years.

• Protein C deficiency

This affects almost people of all races. Inherited form of this disorder is found to affect one in 1000 people. Treatment of this deficiency is with the use of a plasma-derived protein C concentrate. This replaces the missing protein in the body.

• Protein S deficiency

This affects all races. It is found to occur in one out of about 5000 people. Patients suffering from this order are usually treated with plasma or blood thinners.

Although, severe deficiency of protein C and S is rare, it still could occur. Babies who are born with severe forms of this condition are found to have blood clots during birth that can cause blindness and brain damage. This condition can be immediately diagnosed post birth, as the baby is born with purple-coloured patches on the skin. These patches are blood clots under the skin.