Prothrombin gene mutation is an inherited condition that increases a person's chance of forming blood clots. It is known as a type of thrombophilia or blood clotting disorder, and is one of the second most common inherited blood clotting disorder. Most people with prothrombin gene mutation never develop abnormal blood clots.
Platelets are blood cells that are produced in the bone marrow and have several important functions, including helping the blood to clot when an injury or surgery occurs. Inherited platelet disorder is a term that covers a diverse set of very rare abnormalities of the platelets. Specific conditions include:
Immune thrombocytopenic purpura (ITP) is a platelet disorder in which the body produces antibodies that bind with platelets that are the small, sticky cells of the blood that help the blood clot. The platelet-antibody complex is then destroyed in the spleen or liver. This can occur as a short-term event or can be chronic. Patients who have low platelet counts are more likely to have bleeding with trauma or surgery. Some evidence suggests that ITP is related to an overactive immune system; however, the cause is not clearly understood. The condition happens more frequently following certain viral infections and certain immunizations. It also can be associated with autoimmune disorders such as lupus.
A hemophilia carrier is a female who carries a genetic change for hemophilia. Hemophilia is an inherited condition in which blood doesn't clot normally, leading to prolonged bleeding after injury or surgery, or with menstruation Males with hemophilia may experience serious bleeding problems and may require lifelong treatment. Hemophilia carriers may have no bleeding problems, or they may experience bleeding which may affect health and quality of life.
There are a number of inherited, or genetic, blood conditions that may increase a person's chance of forming blood clots. One of the most common of these is factor V Leiden.
Blood clots are clumps of protein that occur when blood hardens from a liquid to a solid. A clot that forms inside a blood vessel, is called a thrombus. Most of the time, clotting is a normal, healthy process that stops bleeding in a damaged area. Clots usually dissolve when the injured tissue has healed.
Hemophilia is an inherited condition in which your child's blood doesn't clot normally. Children with hemophilia don't stop bleeding as quickly as other children and may have serious bleeding problems. When a person is injured or has surgery, platelets and clotting factors in the blood work together to help stop the bleeding and begin the process of healing. People with hemophilia A lack clotting factor 8. People with hemophilia B have little or no clotting factor 9.Symptoms of hemophilia vary depending on the type and severity of hemophilia. Some children with mild hemophilia (factor levels of 5-50% of normal) do not have symptoms until they have surgery, an accident, or a dental procedure. Those with moderate or severe hemophilia (factor levels of 1-5% of normal) may have symptoms of external and/or internal bleeding that begin shortly after birth. It is important that children with hemophilia and their families be aware of the signs and symptoms of bleeding and that treatment be administered as soon as possible.
The Center for Bleeding and Clotting Disorders provides a complete range of care for children and adolescents with bleeding and thrombotic (clotting) disorders. Children's Minnesota belongs to a nationwide network of federally funded Hemophilia Treatment Centers (HTCs) and is the only such program in the region focused solely on pediatrics. This designation ensures that children and adolescents receive comprehensive care from a team of pediatric experts in bleeding and clotting disorders.
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