Hemophilia is a rare condition that prevents the normal clotting of blood. It is usually genetically inherited from parents, and most commonly affects males. It results from a deficiency of certain blood clotting factors, proteins in the blood vital to the formation of blood clots.
There are two main types of hemophilia, A and B. Hemophilia A affects about one in 5,000 to 10,000 males, while hemophilia B affects one in 40,000 males. Hemophilia C is extremely rare.
Symptoms and signs vary with the severity of the condition and are generally related to the effects of bleeding in various parts of the body. Many people with hemophilia have only a mild or moderate form. In these instances, the first indication may not appear until later in life.
In people with mild hemophilia, this may be the first time patient or doctor notices prolonged bleeding. The incident may follow a tooth extraction in an adult who has not had any bleeding problems previously. A vaccination could cause bruising that extends the length of the arm. Excessive bleeding following circumcision surgery in babies may be an early sign of hemophilia, and occurs in 50% of newborns with hemophilia. The heel prick test babies receive at around five days may also cause prolonged bleeding.
Frequent and hard-to-stop nosebleeds are a common sign of moderate or severe hemophilia. These may start spontaneously or following relatively minor trauma. The mouth and gums may also start bleeding during normal activities such as brushing or flossing.
This may occur with minor trauma and result in widespread bleeding into the surrounding muscles. The collection of blood is called a hematoma, and it can extend deep into the muscle, producing significant swelling and pain, as well as redness and warmth. When the hematoma develops in a confined space such as the forearm or calf muscle, the pressure builds up and causes the compression of vital structures such as nerves and blood vessels. If this leads to numbness, the issue needs to be dealt with quickly to avoid permanent damage to the tissues. Bleeding into the muscles of the lower back may present as pain in the lower abdomen, low back, or upper thigh.
Hemoarthrosis is one of the most common symptoms in people with moderate or severe hemophilia. Bleeding into a joint, often the knee, elbow, hip, or ankle, may occur spontaneously or with relatively minor trauma. Untreated, the joint will become swollen and stiff. When this happens repeatedly, the joint can be permanently damaged and may become deformed. Chronic pain can lead to a diagnosis of hemophilic arthropathy. Joint bleeds are not always obvious, especially with mild or moderate hemophilia. The first symptom may be a tingling or tightness with little pain or no pain and no sign of bleeding.
If there is spontaneous bleeding in the bladder or gastrointestinal tract, blood will appear in the urine or stools. This is more likely in adults than children and may be associated with trauma to the abdomen or lower back. Blood in the vomit is more common in people with hemophilia, particularly with prolonged vomiting.
If significant bleeding occurs often enough, a person with hemophilia may develop iron-deficiency anemia, which can lead to fatigue and pallor. If the bleeding is very severe, increased heart rate and low blood pressure can also result. These symptoms and signs may be slow to develop, and doctors may not immediately link them to hemophilia.
Heavy periods (menorrhagia) as a result of hemophilia can affect women from a young age through to menopause. Iron-deficiency anemia is an on-going issue in people who experience heavy blood loss during this stage of the menstrual cycle, and some people require drug treatment to correct the loss.
Though internal bleeding caused by hemophilia is rare, it can have serious, life-threatening consequences requiring emergency treatment. The signs depend on where the bleed occurs. Bleeding in the stomach or intestine may produce dark-colored vomit that looks like coffee grounds. There may be fresh red blood in the vomit, or the stools may have a black,tar-like appearance. Bleeding around the spinal cord causes weakness, tingling, or pain in the arms, legs, or back, and some people have difficulty passing urine. When bleeding occurs in the brain, an individual can develop headaches, neck stiffness, and sensitivity to light, as well as reduced consciousness and nausea.
Childbirth is normally associated with blood loss. A mother with hemophilia faced an added risk of excessive bleeding. Doctors and specialists take specific precautions during delivery to reduce blood loss as much as possible and immediately address any potential issues.
Newborn babies with hemophilia are at risk of bleeding in the brain (intracranial hemorrhage). The symptoms are often non-specific and include reduced activity, failure to feed, irritability, seizures, and pallor.
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