- Refers to a group of inherited disorders that cause abnormal bleeding. The bleeding occurs because part of the blood — called plasma — has too little of a protein that helps blood clot.
- Symptoms of hemophilia range from increased bleeding after trauma, injury, or surgery to sudden bleeding with no apparent cause.
Hemophilia A results from too little of a plasma protein called factor VIII, which helps blood clot. The greater the deficiency, the more severe the symptoms.
- Mild hemophilia: 5% to 25% of the normal factor VIII level
- Moderate hemophilia: 1% to 5% of the normal factor VIII level
- Severe hemophilia: Less than 1% of the normal factor VIII level
- Most people who have hemophilia A have moderate or severe symptoms.
- Hemophilia B results from too little of a plasma protein called factor IX, which helps blood clot. As in hemophilia A, hemophilia B can be mild, moderate, or severe. The greater the deficiency, the more severe the symptoms.
With moderate or severe hemophilia, doctors and caregivers usually don't see any signs of the condition at birth or even for some time afterward. Symptoms in children may include the following:
- Heavy bleeding in a male baby after circumcision
- Excessive bruising or unusual bleeding during teething
- Swollen, bruised joints or muscles when learning to walk
- Frequent falls and bumps
With mild hemophilia, you may not have any noticeable symptoms until you undergo a dental procedure, which may cause you to bleed heavily, or you may not have any unusual bleeding unless you are injured in an accident or have surgery.
- Problems Caused by Hemophilia
Internal bleeding resulting from hemophilia may lead to several health problems, including the following:
- Joint deformity
- Bleeding in the kidneys
- Bleeding in the throat, leading to difficulty breathing
- Bleeding in the brain, leading to brain damage
Joint deformity can be a severe, disabling consequence of hemophilia if joint bleeds are not promptly and adequately treated. People with severe hemophilia may suffer spontaneous bleeding in the joints. Those who have less severe hemophilia may have bleeding in their joints as the result of falls or other injuries. Bleeding in a joint can cause scarring in the joint. With repeated bleeds, the joint may lose mobility and becomes susceptible to further bleeding. The knee, ankle and elbow joints are most commonly affected. Bleeding into the muscles of the legs can also be severely disabling.
Blood in the urine may occur on occasion, due to bleeding within the kidneys.
Bleeding into the throat, if not promptly treated, can interfere with breathing so much that a patient may need to be put onto a ventilator until the bleeding stops and swelling goes down.
Bleeding into the brain may cause permanent brain damage and disability or even death. While usually caused by trauma, in very severe cases of hemophilia, these areas may bleed without known injury.What Causes Hemophilia?
Hemophilia is a genetic disease linked to a defective gene on the X chromosome. Chromosomes come in pairs - women have two X chromosomes while men have one X and one Y chromosome.
A woman who has the defective gene is called a "carrier" -- she carries the disease and can pass it to her children. In most cases, though, the woman has no symptoms of hemophilia. When a woman who is a carrier has a son, the son receives one X chromosome from his mother, so he has a 50% chance of receiving the defective gene (and a 50% chance of receiving a normal copy of the gene). Boys who receive the defective gene have hemophilia. Likewise, when a woman who is a carrier has a daughter, the daughter has a 50 percent chance of receiving the defective gene and, thus, being a carrier herself.
Men who have hemophilia do not pass the disease to their sons because boys inherit only a Y chromosome from their father. However, men do pass their X chromosome, and thus a defective gene, to each of their daughters, so each of their daughters is a carrier.
If the father has hemophilia and the mother is a carrier, there is a chance the daughter will have hemophilia.
About 70% of people who have hemophilia can trace hemophilia back through their family for multiple generations. In about 30% of newly diagnosed infants with hemophilia, no other family member is known to have had hemophilia. In these cases a mutation or change has occurred in the factor VIII or factor IX gene. From the time of the mutation, the affected person can transmit the defective gene to his or her children
US Library of Medicine Genetics Home Reference.
National Heart, Lung and Blood Institute.
National Hemophilia Organization.
von Willebrand Disease (vWD)
Normally, when one of your blood vessels is injured, you start to bleed. Small blood cell fragments called platelets (PLATE-lets) clump together to plug the hole in the blood vessel and stop the bleeding. Von Willebrand factor acts like glue to help the platelets stick together and form a blood clot.
Von Willebrand factor also carries clotting factor VIII (8), another important protein that helps your blood clot. Factor VIII is the protein that's inactive or missing in people who have hemophilia, another clotting disorder.
VWD is more common and usually milder than hemophilia. In fact, VWD is the most common of all the inherited bleeding disorders. It occurs in about 1 out of every 100 to 1,000 people. VWD affects both males and females, while hemophilia mainly affects males.Types of von Willebrand Disease
There are three major types of VWD
- Type 1
- Type 2
- Type 3
Most people who have VWD have type 1, a mild form. This type usually doesn't cause life-threatening bleeding. You may need treatment only if you have surgery, tooth extraction, or trauma. If you need treatment, medicines and medical therapies are used. Some people who have severe forms of VWD need emergency treatment to stop bleeding before it becomes life threatening. Early diagnosis is important. With the right treatment plan, even people who have type 3 VWD can live normal, active lives.
Rare Bleeding Disorders
Rare bleeding disorders are deficiencies in clotting factors I, II, V, VII, X, XI and XIII. In general, these rare bleeding disorders are passed down in an autosomal recessive fashion, which means they affect men and women equally. This also means that when the factor deficiency is inherited from only one parent, the child will be a carrier of the condition, though he or she will usually not have symptoms. New mutations may also appear; in these cases, the family history will be negative. In populations with a tradition for consanguinity (marriage to a blood relative), incidence and prevalence may increase significantly.
- Factor I Deficiency
- Easy bruising
- Nose and mouth bleeds
- Soft tissue bleeds
- Occasional thrombotic episodes
- Recurrent miscarriages
- Factor II Deficiency
- Factor V Deficiency
- Factor VII Deficiency
Other factor VII deficiency symptoms include:
- Joint bleeds
- Spontaneous nosebleeds (epistaxis)
- Bleeding in the stomach, intestines and urinary tract
- Severe menorrhagia in women
- Factor X Deficiency
- Factor XI Deficiency
Factor XI deficiency symptoms may include:
- Nosebleeds (epistaxis)
- Blood in the urine
- Hemorrhage after trauma or surgery
- Menorrhagia and prolonged bleeding after childbirth
- Factor XIII Deficiency
FXIII deficiency is the rarest of the factor deficiencies, affecting an estimated 1 in 5 million births. Prolonged bleeding is associated with the lack of FXIII but is usually seen only after a trauma. In addition, there is a high risk of head bleeds with or without trauma among severe patients.
Other common factor XIII deficiency symptoms include:
- Soft tissue bleeds
- Joint bleeding
- Persistent bleeding during circumcision or at the site of the umbilical cord
- Impaired wound healing
- Recurrent hemoperitoneum during ovulation
- Recurrent miscarriages
Platelets are essential to primary and secondary hemostasis, including coagulation, or clot formation. When platelets do not function properly, prolonged bleeding may occur. Bleeding complications in inherited platelet disorders illustrate the importance of platelets to normal hemostasis. Causes of inherited platelet dysfunction range from defects in receptors important for platelet adhesion and aggregation (GPIb, GPIIb/IIIa) to defects in signaling molecules or transcription factors. The defect might also affect platelet activation, secretion and the secondary wave of platelet aggregation.
Platelet-type bleeding symptoms include mucocutaneous bleeding, such as easy bruising, petechial bleeding, epistaxis and excessive bleeding following invasive surgical and dental procedures. However, there is considerable heterogeneity in the severity of bleeding problems associated with congenital platelet disorders. Congenital platelet disorders can alter circulating platelet number, function or both. Some of the more common inherited platelet disorders include Bernard-Soulier-Syndrome, Glanzmann thrombasthenia, storage pool disorders and Wiskott-Aldrich-Syndrome.
- Nosebleeds (epistaxis)
- Mucocutaneous and other petechial bleeding
- Bleeding after surgical and dental procedures such as tonsillectomy, adenoidectomy, tooth extraction and childbirth.