Diagnosis Of Coagulation Disorders
If your child displays symptoms of one of these disorders, his or her doctor will likely order blood tests. These blood tests show the amounts and behaviors of various clotting factors in the blood and can help the doctor make a diagnosis.
If your child displays symptoms of a blood clot, the doctor will likely order imaging with ultrasound, computed tomography or magnetic resonance imaging . Imaging may help to see a blood clot.
Another factor that can confirm the diagnosis of one of these disorders is genetic counseling. For the inherited disorders, a genetic test can reveal the mutation that causes a particular disorder. When combined with blood test results, proof of this mutation enables your childs doctor to make a sound diagnosis.
Doctors at Riley at IU Health suggest a specific treatment plan based on the coagulation disorder that is diagnosed and:
- Your child’s age and health
- The severity of the condition
- Your child’s tolerance for medicines and treatments
- The likelihood of treatments working
- Your opinions or preferences
There are many different options for the treatment of a coagulation disorder. Treatment for bleeding may include:
Treatment for clotting may include:
Testing For Haemophilia In Babies
If you have a known family history of haemophilia, a sample of your babys blood can be tested after birth to check the blood clotting factor levels and see whether they have haemophilia. Testing is repeated when the baby is six months of age to confirm the results.
Where there is no known family history of haemophilia, children with severe haemophilia are usually diagnosed in their first year of life when their parents or health professionals notice unusual bruising or bleeding problems.
Most babies with haemophilia do not have bleeding problems at birth. However, some bleeding problems may appear at birth or soon after. Haemophilia may be suspected if babies:
- have internal bleeding or unusual swelling or bruising after delivery
- continue to bleed after a heel prick
- have excessive bruising after immunisation.
Other signs may include:
- reluctance to use an arm or a leg.
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Bleeding disorders are a group of conditions that affect the way your blood clots. These conditions can cause abnormal or excessive bleeding outside and inside your body.
When you have a bleeding disorder, your blood does not clot or coagulate properly. The clotting process makes your blood thicken and form a plug at the break in a blood vessel. Too much clotting can lead to heart attacks and strokes or other conditions like deep vein thrombosis. A lack of clot formation can result in dangerous and excessive bleeding.
Blood clots are the main way the body protects against blood loss from injured vessels. Two blood elements, platelets and fibrin, are the primary ingredients in blood clots. Platelets are small circulating blood cells that can stick to the injured vessel wall to form the initial clot. Fibrin is a gel-like substance derived from blood proteins called clotting factors. Fibrin combines with platelets to form a blood clot that prevents blood loss.
Bleeding disorders occur when the blood clotting mechanism does not function properly. Bleeding can occur when clotting factors or platelets are in low supply or if there are problems with the clotting factors or platelets. Abnormal blood vessels can also contribute to bleeding disorders.
There is no cure for most bleeding disorders, but available treatments can help you feel well and live a normal life while managing your bleeding disorders symptoms.
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Haemophilia And Planning A Family
For people with haemophilia or women who carry the gene, planning a family can raise a number of questions, such as:
- Will my children have haemophilia or carry the gene? And if so, how will this affect them?
- What are my options for planning a family?
- How can a mother who carries the gene plan for a safe pregnancy and delivery?
- Who will help with all of this?
s can help you with all your questions about having children.
It may also be helpful to speak to a genetic counsellor.
Alternative And Complementary Therapies
Gene Therapy in Development for Hemophilia A and B
What if, rather than injecting the missing clotting factor into people with hemophilia, you could instead get their bodies to start making it on their own? For more than two decades, scientists have been working on developing a gene therapy for hemophilia that would do just that. And now theyre getting close, with clinical trials reporting successes in gene therapy for both hemophilia A and hemophilia B, notes the NHF.
However, on August 18, 2020, the U.S. Food and Drug Administration declared that BioMarin Pharmaceuticals valoctocogene roxaparvovec gene therapy for severe hemophilia A is not ready for approval in its present form.
Hypnosis
Hypnosis may also have benefits for hemophilia. In a study published in Scientific Reports in September 2019, participants who underwent four weekly hypnosis sessions in addition to their usual treatment had a higher reduction in pain than the control group, and also saw benefits in their quality of life.
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Blood Disorders Affecting Platelets
Blood disorders that affect the platelets include:
Thrombocytopenia : A low number of platelets in the blood numerous conditions cause thrombocytopenia, but most do not result in abnormal bleeding.
Idiopathic thrombocytopenic purpura: A condition causing a persistently low number of platelets in the blood, due to an unknown cause usually, there are no symptoms, yet abnormal bruising, small red spots on the skin , or abnormal bleeding can result.
Heparin-induced thrombocytopenia: A low platelet count caused by a reaction against heparin, a blood thinner given to many hospitalized people to prevent blood clots
Thrombotic thrombocytopenic purpura: A rare blood disorder causing small blood clots to form in blood vessels throughout the body platelets are used up in the process, causing a low platelet count.
Essential thrombocytosis : The body produces too many platelets, due to an unknown cause the platelets do not work properly, resulting in excessive clotting, bleeding, or both.
Growing Up With Haemophilia
With treatment and support from their haemophilia treatment centre, most people with haemophilia can live relatively normal healthy lives. Unless there are complications, young people can expect to grow up with few or no joint problems from their haemophilia. With sensible precautions, they can play most sports, exercise and look forward to a full and productive life.
As children grow, they learn to recognize that bleeding may be occurring. Even before pain or swelling becomes obvious, they may recognise the funny feeling that is one of the earliest signs of a joint bleed. The specialist nurses and physiotherapists at your nearest haemophilia treatment centre can advise parents and children on haemophilia issues during normal childhood stages.
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Treatments Relieve Symptoms Reduce Complications
There is no cure for most bleeding disorders, but available treatments can help you feel well and live a normal life while managing your bleeding disorders symptoms. Common treatments include:
Iron supplementation: You can take iron supplements to replace the iron your body loses from significant blood loss. Low levels of iron can cause iron deficiency anemia.
Blood transfusion: A blood transfusion replenishes your blood supply with blood from a donor. The donor blood will match your blood type to prevent complications. This procedure is only done in the hospital. You may need a blood transfusion if anemia symptoms dont improve with iron supplementation.
Factor replacement therapy: Replacing the protein clotting factors missing from your blood can treat hemophilia and Von Willebrand disease. Synthetic blood factors are made in a laboratory by cloning the genes responsible for specific clotting factors. The treatment is pure and safe. The clotting factor concentrate is injected into your bloodstream.
Fresh frozen plasma transfusion: A transfusion of fresh frozen plasma is usually performed to replace blood clotting factors. These transfusions must be done in a hospital.
Platelet transfusion: Platelets are small cells in your blood that help form blood clots. Platelet transfusions are usually performed to replenish a low platelet count. A platelet transfusion may also be used to treat certain blood coagulation factor deficiencies.
Type And Severity Of Haemophilia
There are two major types of haemophilia:
- Haemophilia A is the most common form and is caused by having reduced levels of clotting factor VIII . This is caused by a change in the F8 gene.
- Haemophilia B, also known as Christmas Disease, is caused by having reduced levels of clotting factor IX . This is caused by a change in the F9 gene.
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How Are Bleeding Disorders Treated
There is no cure for bleeding disorders, but for many people medicine can help control the symptoms. People with mild bleeding problems may only need treatment before or after surgery and dental work or after an injury. If your symptoms are more serious, you may need to take medicine more often.
Common treatments for bleeding disorders include:
What Are The Signs & Symptoms Of Von Willebrand Disease
Many teens with VWD have such mild symptoms that they never know they have it. Those with a more severe form of the disease, though, need a treatment plan to help them reduce bleeding symptoms.
Symptoms of Von Willebrand disease can include:
- having a lot of nosebleeds
- easy bruising that happens a lot
- in girls, heavy, long-lasting periods
- long-lasting or a lot of bleeding during and after procedures
- cuts that ooze blood for longer than usual
- bleeding in the mucous membranes, such as the gums, nose, and lining of the gastrointestinal system
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When Should I Call My Child’s Healthcare Provider
When you should call will vary based on how severe your child’s condition is and what treatment he or she is getting. Since hemophilia is a long-term condition, talk with your child’s healthcare provider about when you should call or get medical treatment for your child.
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Has bleeding that you cannot control
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Is scheduled for surgery or another procedure
Risk Factors For Inheriting Hemophilia
Hemophilia A and B are more common in people assigned male at birth than people assigned female because the genetic transmission occurs due to a recessive gene on the X chromosome.
Hemophilia C is an autosomal inherited form of the disease, meaning that it affects biological males and biological females equally. This is because the genetic defect that causes this type of hemophilia isnt related to sex chromosomes. In the United States, hemophilia C affects about 1 in 100,000 people.
- extreme sleepiness
- continuous bleeding from an injury
If youre pregnant, its important that you see a doctor if you experience any of the above symptoms.
If youre experiencing a medical emergency, you should seek emergency medical care through a local hospital. For follow-up care and condition management, you can connect with a primary care doctor in your area using the Healthline FindCare tool.
Hemophilia is a blood condition associated with heavy bleeding. There are three types of hemophilia: A, B, and C. They differ in what clotting factors are affected.
The severity level of hemophilia can affect symptoms and their severity.
Treatment focuses on replacing clotting factors to prevent future issues with bleeding. A doctor may also recommend additional therapies as needed.
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How Is Von Willebrand Disease Diagnosed
Because symptoms can be mild, VWD can be hard to diagnose and often isn’t found.
If a doctor thinks you have VWD, he or she will examine you and ask about your medical history. Your includes things like your past health, your family’s health, and any medicines you’re taking.
The doctor also may send a blood sample to a lab for tests. Tests might need to be repeated because the levels they detect may rise and fall over time.
How Can Parents Help
Help your child with hemophilia get the best care and avoid bleeding problems as much as possible. These tips can help:
- Enroll your child in a hemophilia treatment center.
- Go to all regular doctor’s visits.
- Give all prescribed medicines as directed.
- Work with your care team so you know the exact steps to take if your child is injured or bleeding.
- Follow the doctor’s instructions about which activities or sports are OK and which to avoid.
- Find a dentist early. Your child should brush their teeth twice a day with fluoride toothpaste and floss every day. Keeping the teeth healthy can help prevent the need for dental procedures.
- Check with the doctor before any procedures and surgeries.
Also, tell your child’s school staff, friends, and all caregivers that your child has hemophilia. They should know:
- how to recognize signs of bleeding
- how to treat bleeding from minor scrapes and cuts
- when to call the doctor
- when to go to the emergency room
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Where Can I Find More Information
If you find that you are interested in learning more about blood diseases and disorders, here are a few other resources that may be of some help:
Results of Clinical Studies Published in Blood
Search Blood, the official journal of ASH, for the results of the latest blood research. While recent articles generally require a subscriber login, patients interested in viewing an access-controlled article in Blood may obtain a copy by e-mailing a request to the Blood Publishing Office.
Blood Disorders Affecting Red Blood Cells
Blood disorders that affect red blood cells include:
Anemia: People with anemia have a low number of red blood cells. Mild anemia often causes no symptoms. More severe anemia can cause fatigue, pale skin, and shortness of breath with exertion.
Iron-deficiency anemia: Iron is necessary for the body to make red blood cells. Low iron intake and loss of blood due to menstruation are the most common causes of iron-deficiency anemia. It may also be caused by blood loss from the GI tract because of ulcers or cancer. Treatment includes iron pills, or rarely, blood transfusion.
Anemia of chronic disease: People with chronic kidney disease or other chronic diseases tend to develop anemia. Anemia of chronic disease does not usually require treatment. Injections of a synthetic hormone, epoetin alfa , to stimulate the production of blood cells or blood transfusions may be necessary in some people with this form of anemia.
Pernicious anemia : A condition that prevents the body from absorbing enough B12 in the diet. This can be caused by a weakened stomach lining or an autoimmune condition. Besides anemia, nerve damage can eventually result. High doses of B12 prevent long-term problems.
Autoimmune hemolytic anemia: In people with this condition, an overactive immune system destroys the body’s own red blood cells, causing anemia. Medicines that suppress the immune system, such as prednisone, may be required to stop the process.
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What Is A Blood Clot
A blood clot is a clump of blood thats changed from a liquid to a gel-like or semisolid state. Clotting is a necessary process that can prevent you from losing too much blood when you have a cut, for example.
When a clot forms inside one of your veins, it wont always dissolve on its own. This can be a very dangerous and even life-threatening situation.
An immobile blood clot generally wont harm you, but theres a chance that it could move and become dangerous. If a blood clot breaks free and travels through your veins to your heart and lungs, it can get stuck and prevent blood flow. This is a medical emergency.
Medical emergency
A blood clot may be a medical emergency. If you think you have one and experience the symptoms below, go to the nearest emergency room or emergency care clinic to be evaluated by a medical professional.
Acquired Clotting Protein Disorders
Most clotting proteins are produced in the liver. Therefore, liver disease can lead to decreased levels of clotting proteins, particularly Factors VII, IX, X, and XI, and proteins that break up clots. Severe liver disease can also lead to a condition known as disseminated intravascular coagulation . Fibrinogen, the protein in blood that is made in the liver and converted to fibrin in response to tissue damage, and von Willebrands factor, which is produced outside the liver and helps platelets stick to the blood vessel wall and to each other, can be increased in liver disease.
Dogs that eat rat poison may have blood clotting problems because the poison reduces the livers production of clotting proteins. Affected animals may have blood clots and bruising of superficial and deep tissues. Often, the animals do not bleed within the first 24 hours after eating the poison. Vitamin K1, given by injection and then by mouth, is the usual treatment, but may cause side effects, including anemia or allergic reactions. If you suspect your dog has eaten any type of rat or mouse poison, this is an emergency and an immediate trip to your veterinarian is appropriate.
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What Are The Types Of Von Willebrand Disease
There are various forms of VWD:
- In Type 1, the level of Von Willebrand factor in the blood is reduced and the level of factor VIII also might be reduced. This is the most common and mildest form of the disease. The symptoms might be so minor that the person isn’t ever diagnosed. People with type I VWD usually do not bleed spontaneously but can have a lot of bleeding with menstrual periods, trauma, surgery, or when they have a tooth pulled.
- In Type 2, the level of Von Willebrand factor in the blood is normal, but doesn’t work as it should. Type 2 has several subtypes, including:
- Type 2A: The building blocks that make up the factor are smaller than usual or break down too easily.
- Type 2B: The factor sticks to the platelets too well, leading to clumping of the platelets, which can cause a low platelet number.