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Prothrombin gene mutation
What is prothrombin gene mutation?
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.
What are the symptoms of prothrombin gene mutation?
Many patients with a prothrombin gene mutation never experience symptoms. If a patient has a clot, he or she may be tested for this and other blood clotting disorders.
Symptoms of blood clots vary depending upon where the clot is located. Blood clots in the brain may cause visual disturbances, weakness, seizures, or speech impairment. Blood clots in the arm or leg may cause sudden pain, swelling, or tenderness. A blood clot in the lung may cause sharp chest pain, rapid pulse, bloody cough, shortness of breath, sweating, or fever. A blood clot in the abdomen may cause severe abdominal pain, vomiting or diarrhea.
How are prothrombin gene mutation diagnosed?
A doctor may suspect the prothrombin gene mutation if a patient has had one or more episodes of thrombosis, or blood clots. Blood tests and genetic tests can identify and confirm the prothrombin gene mutation.
How is prothrombin gene mutation treated?
As with other blood clotting disorders, patients may receive medication to help prevent clotting at high-risk times such as pregnancy, major surgery, prolonged bed rest or inactivity or trauma. They would also require more prolonged courses of treatment after a clotting episode.
Medication may be continued indefinitely. A healthy lifestyle is strongly encouraged as a way to prevent blood clots and other complications.
What outcomes are available at Children's for those diagnosed with prothrombin gene mutation?
The vast majority of children diagnosed and treated for prothrombin gene mutation can expect to live normal lives. The focus for these patients is to prevent blood clots.
About treatment at Children's for prothrombin gene mutation
At Children's Hospitals and Clinics of Minnesota, your child has a team of health care experts to diagnose and treat disorders such as prothrombin gene mutation. Part of that team includes health educators who will help your family recognize the signs and symptoms of a clot so you can seek immediate treatment and prevent serious complications.
Consistent follow-up care can help your child successfully manage this diagnosis over their lifetime.
If you are a family member looking for a Children's hematologist/oncologist or wanting to make an appointment, call the outpatient clinic at Children's – Minneapolis at (612) 813-5940
If you are a health professional looking for consultation or referral information, please call Children's Physician Access at 1-866-755-2121 (toll-free).
Bone Marrow Failure Program
The Bone Marrow Failure Program at the Children’s Hospitals and Clinics of Minnesota provides comprehensive multidisciplinary care for children with bone marrow failure syndromes.
Why choose Children’s?
- Experts work together for your child. Children's Hospital and Clinics of Minnesota offers a full range of specialists to diagnose and treat these disorders. Our doctors have worked with many children with bone marrow failure syndromes and their families. Our comprehensive team will help you understand the disease, provide various treatment options and help you get support throughout the process.
- Access to the latest treatment options. Our Bone Marrow Failure Program participates in several national registries, such as the Severe Chronic Neutropenia International Registry (SCNIR) and the Diamond-Blackfan Anemia Registry, which collect data to help experts learn more about these rare syndromes and their treatment.
- Second opinions for children not seen in our program. At Children’s, we provide consultation services for children who are not seen in our program but would like input from our expert team. If you or your child's doctor would like us to review your child's case, you may arrange to have health records and test results for your child sent to us. The child does not need to live in the area or be seen in our clinic.
What is Bone Marrow Failure?
Bone marrow failure occurs when the bone marrow in the center of the bone does not make enough healthy blood cells for the body to function normally. Bone marrow failure can result from an inherited bone marrow failure syndrome or as a result of exposure to environmental toxins. Complications from bone marrow failure may be complex and life threatening requiring immediate care.
There are two main types of bone marrow failure, inherited, meaning there is a genetic component to the disease, or acquired, meaning the bone marrow failure developed without a genetic component. Bone marrow failure can affect one or more types of blood cells in the body, including white blood cells, red blood cells and platelets.
The symptoms a child develops depends on which cells of the bone marrow are affected by the failure of the bone marrow.
Low levels of white blood cells result in increased chance for infections. The child may get sick more often or may take longer to get better than other children.
Low levels of red blood cell affect how much oxygen the blood cells carry to the body and can lead to feeling tired, weak, dizzy, or pale. This can be a gradual change and may not lead to a visit to the doctor for weeks or months. Illnesses with low levels of red blood cells are called “anemias”.
Low levels of platelets affect how the blood clots. The child may have increased bruising or bleeding in the skin, nose and mouth. Bleeding issues may be the reason for the first visit to the doctor.
A thorough physical exam, family history and lab tests are completed. Often a bone marrow test to look at how the blood cells are growing is required. Sometimes imaging studies to assess other organs may also be needed.
Treatment options are based on the symptoms of the child, physical exam, history and lab test results. Options may include blood transfusion, antibiotics, and other medications to increase blood cell production in the bone marrow. A bone marrow transplant may be required.
More about the program
Receiving the news that your child has a blood disorder affects you and your entire family, as well as your child. Such a diagnosis comes with uncertainty, fear and lots of questions.
Fortunately, Children’s Hospitals and Clinics of Minnesota, housing the largest pediatric blood disorders program in Minnesota, is prepared. We deliver the latest treatments your child needs and uniquely care for your entire family, making Children’s the best place for pediatric blood disorder treatment.
- Teen Hematology and Gynecology Program
- Vascular Anomalies Center
- Children's Center for Bleeding and Clotting Disorders
- Hemoglobinopathy and Sickle Cell Program
- Bone Marrow Failure Program
Center for Bleeding and Clotting Disorders
The Center for Bleeding and Clotting Disorders at Children's provides a complete range of care for children and adolescents with bleeding and thrombotic (clotting) disorders. Children's 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.
Comprehensive care is a systematic, multidisciplinary team approach that provides services in a coordinated, proactive manner to improve the health and quality of life for people with bleeding and clotting disorders. The HTC comprehensive care model has a proven record of improving health and reducing costs by lowering rates of emergency room visits, hospital stays and illness-related time off from work and school. The program has strong collaboration with community, regional, and national services and resources for these children and their families. In addition, summer camp, parent support groups, and family retreats are supported by the HTC.
Children's Hospitals and Clinics of Minnesota has created a special approach to bleeding and clotting disorders that address the special needs of children and adolescents through its Center for Bleeding and Clotting Disorders.
Why Choose Children's?
- The Center for Bleeding and Clotting Disorders at Children's is part of the Children's Blood Disorders program, which is the largest program in the state and treats more than 1,000 children with blood disorders each year.
- The only center in the region focused specifically on children and adolescents.
- Part of a nationwide network of federally funded hemophilia and thrombosis centers.
- Only federally funded, pediatric Hemophilia and Thrombosis Center in the region, which ensures comprehensive care for patients. Children's treats more than 80 percent of children and teens in Minnesota with a hemophilia diagnosis.
- Factor product provided to patients at a low cost through a federally approved 340B program and distributed via outpatient clinic and home delivery.
- Children's has the only Teen Hematology and Gynecology Program in Minnesota.
- A CDC study shows the rate of hospital stays for bleeding-related events among patients seen in federally recognized HTCs was 40 percent lower than the rates of patients seen in other care facilities.
- Second opinions for children not seen in our program. At Children's, we provide consultation services for children who are not seen in our program but would like input from our expert team. If you or your child's doctor would like us to review your child's case, you may arrange to have health records and test results for your child sent to us. The child does not need to live in the area or be seen in our clinic.
More about our program
- What is the Center for Bleeding and Clotting Disorders?
- Who treats this at Children's?
- Research, innovations and advancements
- Types of bleeding and clotting disorders