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Hemophilia (heem-o-FILL-ee-ah) is a rare bleeding disorder in which the blood doesn't clot normally.
                
If you have hemophilia, you may bleed for a longer time than others after an injury. You also may bleed inside your body (internally), especially in your knees, ankles, and elbows. This bleeding can damage your organs and tissues and may be life threatening.
                
Overview
                
Hemophilia usually is inherited. "Inherited means that the disorder is passed from parents to children through genes.
                
People born with hemophilia have little or no clotting factor. Clotting factor is a protein needed for normal blood clotting. There are several types of clotting factors. These proteins work with platelets (PLATE-lets) to help the blood clot.
                
Platelets are small blood cell fragments that form in the bone marrowa sponge-like tissue in the bones. Platelets play a major role in blood clotting. When blood vessels are injured, clotting factors help platelets stick together to plug cuts and breaks on the vessels and stop bleeding.
                
The two main types of hemophilia are A and B. If you have hemophilia A, you're missing or have low levels of clotting factor VIII (8). About 8 out of 10 people who have hemophilia have type A. If you have hemophilia B, you're missing or have low levels of clotting factor IX (9).
                
Rarely, hemophilia can be acquired. "Acquired means you aren't born with the disorder, but you develop it during your lifetime. This can happen if your body forms antibodies (proteins) that attack the clotting factors in your bloodstream. The antibodies can prevent the clotting factors from working.
                
This article focuses on inherited hemophilia.
                
Outlook
                
Hemophilia can be mild, moderate, or severe, depending on how much clotting factor is in your blood. About 7 out of 10 people who have hemophilia A have the severe form of the disorder.
                
People who don't have hemophilia have a factor VIII activity of 100 percent. People who have severe hemophilia A have a factor VIII activity of less than 1 percent.
                
Hemophilia usually occurs in males (with rare exceptions). About 1 in 5,000 males are born with hemophilia each year.
A defect in one of the genes that determines how the body makes blood clotting factor VIII or IX causes hemophilia. These genes are located on the X chromosomes (KRO-muh-somz).
                
Chromosomes come in pairs. Females have two X chromosomes, while males have one X and one Y chromosome. Only the X chromosome carries the genes related to clotting factors.
                
A male who has a hemophilia gene on his X chromosome will have hemophilia. When a female has a hemophilia gene on only one of her X chromosomes, she is a "hemophilia carrier and can pass the gene to her children. Sometimes carriers have low levels of clotting factor and have symptoms of hemophilia, including bleeding. Clotting factors are proteins in the blood that work together with platelets to stop or control bleeding.
                
Very rarely, a girl may be born with a very low clotting factor level and have a greater risk for bleeding, similar to boys who have hemophilia and very low levels of clotting factor. There are several hereditary and genetic causes of this much rarer form of hemophilia in females.
                
Some males who have the disorder are born to mothers who aren't carriers. In these cases, a mutation (random change) occurs in the gene as it is passed to the child.
                
Below are two examples of how the hemophilia gene is inherited.
                
Inheritance Pattern for HemophiliaExample 1
                

                
Each daughter has a 50 percent chance of inheriting the hemophilia gene from her mother and being a carrier. Each son has a 50 percent chance of inheriting the hemophilia gene from his mother and having hemophilia.
                
Inheritance Pattern for HemophiliaExample 2
                

                
Each daughter will inherit the hemophilia gene from her father and be a carrier. None of the sons will inherit the hemophilia gene from their father; thus, none will have hemophilia.
The major signs and symptoms of hemophilia are excessive bleeding and easy bruising.
                
Excessive Bleeding
                
The extent of bleeding depends on how severe the hemophilia is.
                
Children who have mild hemophilia may not have signs unless they have excessive bleeding from a dental procedure, an accident, or surgery. Males who have severe hemophilia may bleed heavily after circumcision.
                
Bleeding can occur on the body's surface (external bleeding) or inside the body (internal bleeding).
                
Signs of external bleeding may include:
                
Bleeding in the mouth from a cut or bite or from cutting or losing a tooth
                
Nosebleeds for no obvious reason
                
Heavy bleeding from a minor cut
                
Bleeding from a cut that resumes after stopping for a short time
                
Signs of internal bleeding may include:
                
Blood in the urine (from bleeding in the kidneys or bladder)
                
Blood in the stool (from bleeding in the intestines or stomach)
                
Large bruises (from bleeding into the large muscles of the body)
                
Bleeding in the Joints
                
Bleeding in the knees, elbows, or other joints is another common form of internal bleeding in people who have hemophilia. This bleeding can occur without obvious injury.
                
At first, the bleeding causes tightness in the joint with no real pain or any visible signs of bleeding. The joint then becomes swollen, hot to touch, and painful to bend.
                
Swelling continues as bleeding continues. Eventually, movement in the joint is temporarily lost. Pain can be severe. Joint bleeding that isn't treated quickly can damage the joint.
                
Bleeding in the Brain
                
Internal bleeding in the brain is a very serious complication of hemophilia. It can happen after a simple bump on the head or a more serious injury. The signs and symptoms of bleeding in the brain include:
                
Long-lasting, painful headaches or neck pain or stiffness
                
Repeated vomiting
                
Sleepiness or changes in behavior
                
Sudden weakness or clumsiness of the arms or legs or problems walking
                
Double vision
                
Convulsions or seizures
If you or your child appears to have a bleeding problem, your doctor will ask about your personal and family medical histories. This will reveal whether you or your family members, including women and girls, have bleeding problems. However, some people who have hemophilia have no recent family history of the disease.
                
You or your child also will likely have a physical exam and blood tests to diagnose hemophilia. Blood tests are used to find out:
                
How long it takes for your blood to clot
                
Whether your blood has low levels of any clotting factors
                
Whether any clotting factors are completely missing from your blood
                
The test results will show whether you have hemophilia, what type of hemophilia you have, and how severe it is.
                
Hemophilia A and B are classified as mild, moderate, or severe, depending on the amount of clotting factor VIII or IX in the blood.
                
The severity of symptoms can overlap between the categories. For example, some people who have mild hemophilia may have bleeding problems almost as often or as severe as some people who have moderate hemophilia.
                
Severe hemophilia can cause serious bleeding problems in babies. Thus, children who have severe hemophilia usually are diagnosed during the first year of life. People who have milder forms of hemophilia may not be diagnosed until they're adults.
                
The bleeding problems of hemophilia A and hemophilia B are the same. Only special blood tests can tell which type of the disorder you or your child has. Knowing which type is important because the treatments are different.
                
Pregnant women who are known hemophilia carriers can have the disorder diagnosed in their unborn babies as early as 12 weeks into their pregnancies.
                
Women who are hemophilia carriers also can have "preimplantation diagnosis" to have children who don't have hemophilia.
                
For this process, women have their eggs removed and fertilized by sperm in a laboratory. The embryos are then tested for hemophilia. Only embryos without the disorder are implanted in the womb.
Pleurisy
                
Many conditions can cause pleurisy. Viral infections are likely the most common cause. Other causes of pleurisy include:
                
Bacterial infections, such as pneumonia (nu-MO-ne-ah) and tuberculosis, and infections from fungi or parasites
                
Pulmonary embolism, a blood clot that travels through the blood vessels to the lungs
                
Autoimmune disorders, such as lupus and rheumatoid arthritis
                
Cancer, such as lung cancer, lymphoma, and mesothelioma (MEZ-o-thee-lee-O-ma)
                
Chest and heart surgery, especially coronary artery bypass grafting
                
Lung diseases, such as LAM (lymphangioleiomyomatosis) or asbestosis (as-bes-TO-sis)
                
Inflammatory bowel disease
                
Familial Mediterranean fever, an inherited condition that often causes fever and swelling in the abdomen or lungs
                
Other causes of pleurisy include chest injuries, pancreatitis (an inflamed pancreas), and reactions to certain medicines. Reactions to certain medicines can cause a condition similar to lupus. These medicines include procainamide, hydralazine, and isoniazid.
                
Sometimes doctors can't find the cause of pleurisy.
                
Pneumothorax
                
Lung diseases or acute lung injury can make it more likely that you will develop a pneumothorax (a buildup of air or gas in the pleural space). Such lung diseases may include COPD (chronic obstructive pulmonary disease), tuberculosis, and LAM.
                
Surgery or a chest injury also may cause a pneumothorax.
                
You can develop a pneumothorax without having a recognized lung disease or chest injury. This is called a spontaneous pneumothorax. Smoking increases your risk of spontaneous pneumothorax. Having a family history of the condition also increases your risk.
                
Pleural Effusion
                
The most common cause of a pleural effusion (a buildup of fluid in the pleural space) is heart failure. Lung cancer, LAM, pneumonia, tuberculosis, and other lung infections also can lead to a pleural effusion.
                
Sometimes kidney or liver disease can cause fluid to build up in the pleural space. Asbestosis, sarcoidosis (sar-koy-DO-sis), and reactions to some medicines also can lead to a pleural effusion.
                
Hemothorax
                
An injury to the chest, chest or heart surgery, or lung or pleural cancer can cause a hemothorax (buildup of blood in the pleural space).
                
A hemothorax also can be a complication of an infection (for example, pneumonia), tuberculosis, or a spontaneous pneumothorax.
Pleurisy
                
The main symptom of pleurisy is a sharp or stabbing pain in your chest that gets worse when you breathe in deeply or cough or sneeze.
                
The pain may stay in one place or it may spread to your shoulders or back. Sometimes the pain becomes a fairly constant dull ache.
                
Depending on what's causing the pleurisy, you may have other symptoms, such as:
                
Shortness of breath or rapid, shallow breathing
                
Coughing
                
Fever and chills
                
Unexplained weight loss
                
Pneumothorax
                
The symptoms of pneumothorax include:
                
Sudden, sharp chest pain that gets worse when you breathe in deeply or cough
                
Shortness of breath
                
Chest tightness
                
Easy fatigue (tiredness)
                
A rapid heart rate
                
A bluish tint to the skin caused by lack of oxygen
                
Other symptoms of pneumothorax include flaring of the nostrils; anxiety, stress, and tension; and hypotension (low blood pressure).
                
Pleural Effusion
                
Pleural effusion often has no symptoms.
                
Hemothorax
                
The symptoms of hemothorax often are similar to those of pneumothorax. They include:
                
Chest pain
                
Shortness of breath
                
Respiratory failure
                
A rapid heart rate
                
Anxiety
                
Restlessness
Thrombocythemia (THROM-bo-si-THE-me-ah) and thrombocytosis (THROM-bo-si-TO-sis) are conditions in which your blood has a higher than normal number of platelets (PLATE-lets).
                
Platelets are blood cell fragments. They're made in your bone marrow along with other kinds of blood cells.
                
Platelets travel through your blood vessels and stick together (clot). Clotting helps stop any bleeding that may occur if a blood vessel is damaged. Platelets also are called thrombocytes (THROM-bo-sites) because a blood clot also is called a thrombus.
                
A normal platelet count ranges from 150,000 to 450,000 platelets per microliter of blood.
                
Overview
                
The term "thrombocythemia" is preferred when the cause of a high platelet count isn't known. The condition sometimes is called primary or essential thrombocythemia.
                
This condition occurs if faulty cells in the bone marrow make too many platelets. Bone marrow is the sponge-like tissue inside the bones. It contains stem cells that develop into red blood cells, white blood cells, and platelets. What causes the bone marrow to make too many platelets often isn't known.
                
With primary thrombocythemia, a high platelet count may occur alone or with other blood cell disorders. This condition isn't common.
                
When another disease or condition causes a high platelet count, the term "thrombocytosis" is preferred. This condition often is called secondary or reactive thrombocytosis. Secondary thrombocytosis is more common than primary thrombocythemia.
                
Often, a high platelet count doesn't cause signs or symptoms. Rarely, serious or life-threatening symptoms can develop, such as blood clots and bleeding. These symptoms are more likely to occur in people who have primary thrombocythemia.
                
Outlook
                
People who have primary thrombocythemia with no signs or symptoms don't need treatment, as long as the condition remains stable.
                
Other people who have this condition may need medicines or procedures to treat it. Most people who have primary thrombocythemia will live a normal lifespan.
                
Treatment and outlook for secondary thrombocytosis depend on its underlying cause.
Primary Thrombocythemia
                
In this condition, faulty stem cells in the bone marrow make too many platelets. What causes this to happen usually isn't known. When this process occurs without other blood cell disorders, it's called essential thrombocythemia.
                
A rare form of thrombocythemia is inherited. ("Inherited" means the condition is passed from parents to children through the genes.) In some cases, a genetic mutation may cause the condition.
                
In addition to the bone marrow making too many platelets, the platelets also are abnormal in primary thrombocythemia. They may form blood clots or, surprisingly, cause bleeding when they don't work well.
                
Bleeding also can occur because of a condition that develops called von Willebrand disease. This condition affects the blood clotting process.
                
After many years, scarring of the bone marrow can occur.
                
Secondary Thrombocytosis
                
This condition occurs if another disease, condition, or outside factor causes the platelet count to rise. For example, 35 percent of people who have high platelet counts also have cancermostly lung, gastrointestinal, breast, ovarian, and lymphoma. Sometimes a high platelet count is the first sign of cancer.
                
Other conditions or factors that can cause a high platelet count are:
                
Iron-deficiency anemia (uh-NEE-me-uh)
                
Hemolytic (HEE-moh-lit-ick) anemia
                
Absence of a spleen (after surgery to remove the organ)
                
Inflammatory or infectious diseases, such as connective tissue disorders, inflammatory bowel disease, and tuberculosis
                
Reactions to medicine
                
Some conditions can lead to a high platelet count that lasts for only a short time. Examples of such conditions include:
                
Recovery from serious blood loss
                
Recovery from a very low platelet count caused by excessive alcohol use and lack of vitamin B12 or folate
                
Acute (short-term) infection or inflammation
                
Response to physical activity
                
Although the platelet count is high in secondary thrombocytosis, the platelets are normal (unlike in primary thrombocythemia). Thus, people who have secondary thrombocytosis have a lower risk of blood clots and bleeding.
Primary Thrombocythemia
                
Thrombocythemia isn't common. The exact number of people who have the condition isn't known. Some estimates suggest that 24 out of every 100,000 people have primary thrombocythemia.
                
Primary thrombocythemia is more common in people aged 50 to 70, but it can occur at any age. For unknown reasons, more women around the age of 30 have primary thrombocythemia than men of the same age.
                
Secondary Thrombocytosis
                
You might be at risk for secondary thrombocytosis if you have a disease, condition, or factor that can cause it. (For more information, go to "What Causes Thrombocythemia and Thrombocytosis?")
                
Secondary thrombocytosis is more common than primary thrombocythemia. Studies have shown that most people who have platelet counts over 500,000 have secondary thrombocytosis.
People who have thrombocythemia or thrombocytosis may not have signs or symptoms. These conditions might be discovered only after routine blood tests.
                
However, people who have primary thrombocythemia are more likely than those who have secondary thrombocytosis to have serious signs and symptoms.
                
The signs and symptoms of a high platelet count are linked to blood clots and bleeding. They include weakness, bleeding, headache, dizziness, chest pain, and tingling in the hands and feet.
                
Blood Clots
                
In primary thrombocythemia, blood clots most often develop in the brain, hands, and feet. But they can develop anywhere in the body, including in the heart and intestines.
                
Blood clots in the brain may cause symptoms such as chronic (ongoing) headache and dizziness. In extreme cases, stroke may occur.
                
Blood clots in the tiny blood vessels of the hands and feet leave them numb and red. This may lead to an intense burning and throbbing pain felt mainly on the palms of the hands and the soles of the feet.
                
Other signs and symptoms of blood clots may include:
                
Changes in speech or awareness, ranging from confusion to passing out
                
Seizures
                
Upper body discomfort in one or both arms, the back, neck, jaw, or abdomen
                
Shortness of breath and nausea (feeling sick to your stomach)
                
In pregnant women, blood clots in the placenta can cause miscarriage or problems with fetal growth and development.
                
Women who have primary thrombocythemia or secondary thrombocytosis and take birth control pills are at increased risk for blood clots.
                
Blood clots are related to other conditions and factors as well. Older age, prior blood clots, diabetes, high blood pressure, and smoking also increase your risk for blood clots.
                
Bleeding
                
If bleeding occurs, it most often affects people who have platelet counts higher than 1million platelets per microliter of blood. Signs of bleeding include nosebleeds, bruising, bleeding from the mouth or gums, or blood in the stools.
                
Although bleeding usually is associated with a low platelet count, it also can occur in people who have high platelet counts. Blood clots that develop in thrombocythemia or thrombocytosis may use up your body's platelets. This means that not enough platelets are left in your bloodstream to seal off cuts or breaks on the blood vessel walls.
                
Another cause of bleeding in people who have very high platelets counts is a condition called von Willebrand Disease. This condition affects the blood clotting process.
                
In rare cases of primary thrombocythemia, the faulty bone marrow cells will cause a form of leukemia (lu-KE-me-ah). Leukemia is a cancer of the blood cells.
You can't prevent primary thrombocythemia. However, you can take steps to reduce your risk for complications. For example, you can control many of the risk factors for blood clots, such as high blood cholesterol, high blood pressure, diabetes, and smoking.
                
To reduce your risk, quit smoking, adopt healthy lifestyle habits, and work with your doctor to manage your risk factors.
                
It's not always possible to prevent conditions that lead to secondary thrombocytosis. But, if you have routine medical care, your doctor may detect these conditions before you develop a high platelet count.