Von Willebrand disease (VWD) is an inherited bleeding disorder. It affects your blood's ability to clot. If your blood doesn't clot, you can have heavy, hard-to-stop bleeding after an injury. The bleeding can damage your internal organs or even be life threatening, although this is rare.
In VWD, you either have low levels of a certain protein in your blood, or the protein doesn't work the way it should. The protein is called von Willebrand factor, and it helps the blood clot.
Normally, when one of your blood vessels is injured, you start to bleed. Small blood cells 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 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
In type 1 VWD, you have a low level of the von Willebrand factor, and you may have lower levels of factor VIII than normal. This is the mildest and most common form of the disease. About 3 out of 4 people who have VWD have type 1.
Type 2
In type 2 VWD, the von Willebrand factor doesn’t work the way it's supposed to. Type 2 is divided into subtypes: 2A, 2B, 2M, and 2N. Different gene mutations cause each type, and each is treated differently. This makes knowing the exact type of VWD that you have very important.
Type 3
In type 3 VWD, you usually have no von Willebrand factor and low levels of
factor VIII. Type 3 is the most serious form of VWD, but it’s very rare.
Overview
Most people with VWD have type 1, a mild form. This type usually doesn't cause life-threatening bleeding, and 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 with severe forms of VWD need to seek emergency treatment to stop bleeding before it becomes life threatening.
Early diagnosis is important. With the right treatment plan, even people with type 3 VWD can be helped to live normal, active lives.
Wednesday, March 25, 2009
What Is Thrombocytopenia?
Thrombocytopenia (THROM-bo-si-to-PE-ne-ah) is a condition in which your blood has a low number of blood cell fragments called platelets (PLATE-lets).
Platelets are made in your bone marrow along with other kinds of blood cells. They travel through your blood vessels and stick together (clot) to stop any bleeding that could happen if a blood vessel is damaged. Platelets also are called thrombocytes (THROM-bo-sites), because a clot also is called a thrombus.
Overview
When your blood has a low number of platelets, mild to serious bleeding can occur. This bleeding can happen inside the body (internal bleeding) or on the skin.
A normal platelet count is 150,000 to 450,000 platelets per microliter of blood. A count of less than 150,000 platelets per microliter is lower than normal. But the risk for serious bleeding doesn't occur until the count becomes very low—less than 10,000 or 20,000 platelets per microliter. Milder bleeding sometimes occurs when the count is less than 50,000 platelets per microliter.
Several factors can cause a low platelet count, such as:
The body's bone marrow doesn't make enough platelets.
The bone marrow makes enough platelets, but the body destroys them or uses them up.
The spleen holds onto too many platelets. The spleen is an organ that normally stores about one-third of the body's platelets. It also helps your body fight infection and remove unwanted cell material.
A combination of the above factors.
How long thrombocytopenia lasts depends on its cause. It can range from days to years.
The treatment for this condition also depends on its cause and severity. Mild thrombocytopenia most often doesn't need treatment. If the condition is causing serious bleeding, or if you're at risk for serious bleeding, you may need medicines or blood or platelet transfusions. Rarely, the spleen may need to be removed.
Outlook
Thrombocytopenia can be fatal, especially if the bleeding is severe or occurs in the brain. However, the overall outlook is good, especially if the cause of the low platelet count is found and treated.
Platelets are made in your bone marrow along with other kinds of blood cells. They travel through your blood vessels and stick together (clot) to stop any bleeding that could happen if a blood vessel is damaged. Platelets also are called thrombocytes (THROM-bo-sites), because a clot also is called a thrombus.
Overview
When your blood has a low number of platelets, mild to serious bleeding can occur. This bleeding can happen inside the body (internal bleeding) or on the skin.
A normal platelet count is 150,000 to 450,000 platelets per microliter of blood. A count of less than 150,000 platelets per microliter is lower than normal. But the risk for serious bleeding doesn't occur until the count becomes very low—less than 10,000 or 20,000 platelets per microliter. Milder bleeding sometimes occurs when the count is less than 50,000 platelets per microliter.
Several factors can cause a low platelet count, such as:
The body's bone marrow doesn't make enough platelets.
The bone marrow makes enough platelets, but the body destroys them or uses them up.
The spleen holds onto too many platelets. The spleen is an organ that normally stores about one-third of the body's platelets. It also helps your body fight infection and remove unwanted cell material.
A combination of the above factors.
How long thrombocytopenia lasts depends on its cause. It can range from days to years.
The treatment for this condition also depends on its cause and severity. Mild thrombocytopenia most often doesn't need treatment. If the condition is causing serious bleeding, or if you're at risk for serious bleeding, you may need medicines or blood or platelet transfusions. Rarely, the spleen may need to be removed.
Outlook
Thrombocytopenia can be fatal, especially if the bleeding is severe or occurs in the brain. However, the overall outlook is good, especially if the cause of the low platelet count is found and treated.
What Are Thrombocythemia and Thrombocytosis?
Thrombocythemia (THROM-bo-si-THE-me-ah) and thrombocytosis (THROM-bo-si-TO-sis) are conditions in which your blood has a high number of blood cell fragments called platelets (PLATE-lets).
Platelets are made in your bone marrow along with other kinds of blood cells. They travel through your blood vessels and stick together (clot) to stop any bleeding that could happen if a blood vessel is damaged. Platelets also are called thrombocytes (THROM-bo-sites), because a 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 the high platelet count isn't known. The condition is then called primary or essential thrombocythemia.
This condition occurs when 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, or 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. The platelet count can be as low as 500,000 platelets per microliter of blood or higher than 1 million platelets per microliter of blood. 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.
In this condition, the platelet count usually is less than 1 million platelets per microliter of blood. Secondary thrombocytosis is more common than primary thrombocythemia.
Most people who have a high platelet count don't have signs or symptoms. Rarely, serious or life-threatening symptoms can develop, such as blood clots and bleeding. These symptoms mostly occur in people who have primary thrombocythemia.
Outlook
People who have primary thrombocythemia but 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 life span.
Treatment and outlook for secondary thrombocytosis depend on its underlying cause
Platelets are made in your bone marrow along with other kinds of blood cells. They travel through your blood vessels and stick together (clot) to stop any bleeding that could happen if a blood vessel is damaged. Platelets also are called thrombocytes (THROM-bo-sites), because a 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 the high platelet count isn't known. The condition is then called primary or essential thrombocythemia.
This condition occurs when 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, or 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. The platelet count can be as low as 500,000 platelets per microliter of blood or higher than 1 million platelets per microliter of blood. 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.
In this condition, the platelet count usually is less than 1 million platelets per microliter of blood. Secondary thrombocytosis is more common than primary thrombocythemia.
Most people who have a high platelet count don't have signs or symptoms. Rarely, serious or life-threatening symptoms can develop, such as blood clots and bleeding. These symptoms mostly occur in people who have primary thrombocythemia.
Outlook
People who have primary thrombocythemia but 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 life span.
Treatment and outlook for secondary thrombocytosis depend on its underlying cause
What Are Thalassemias?
Thalassemias (thal-a-SE-me-ahs) are inherited blood disorders. "Inherited" means they're passed on from parents to children through genes.
Thalassemias cause the body to make fewer healthy red blood cells and less hemoglobin (HEE-muh-glow-bin) than normal. Hemoglobin is an iron-rich protein in red blood cells. It carries oxygen to all parts of the body. It also carries carbon dioxide (a waste gas) from the body to the lungs, where it's exhaled.
People who have thalassemias can have mild or severe anemia (uh-NEE-me-uh). This condition is caused by a lower than normal number of red blood cells or not enough hemoglobin in the red blood cells.
Overview
Normal hemoglobin, also called hemoglobin A, has four protein chains—two alpha globin and two beta globin. The two major types of thalassemia, alpha and beta, are named after defects in these protein chains.
Four genes are needed to make enough alpha globin protein chains. Alpha thalassemia trait occurs when one or two of the four genes are missing. If more than two genes are missing, the result is moderate to severe anemia.
The most severe form of alpha thalassemia is known as alpha thalassemia major or hydrops fetalis. Babies with this disorder usually die before or shortly after birth.
Two genes (one from each parent) are needed to make enough beta globin protein chains. Beta thalassemia occurs when one or both genes are altered.
The severity of beta thalassemia depends on how badly one or both genes are affected. If both genes are affected, the result is moderate to severe anemia. The severe form of beta thalassemia also is known as thalassemia major or Cooley's anemia.
Thalassemias affect both males and females. They occur most often among people of Italian, Greek, Middle Eastern, Asian, and African descent. Severe forms usually are diagnosed in early childhood and are lifelong conditions.
Doctors diagnose thalassemias using blood tests. The disorders are treated with blood transfusions, medicines, and other procedures.
Outlook
Treatments for thalassemias have improved greatly in the past few years. People who have moderate and severe thalassemias are now living longer and have better quality of life than before.
However, complications from thalassemias and their treatments are frequent. People who have moderate or severe thalassemias must closely follow their treatment plans. They need to take care of themselves to remain as healthy as possible.
Thalassemias cause the body to make fewer healthy red blood cells and less hemoglobin (HEE-muh-glow-bin) than normal. Hemoglobin is an iron-rich protein in red blood cells. It carries oxygen to all parts of the body. It also carries carbon dioxide (a waste gas) from the body to the lungs, where it's exhaled.
People who have thalassemias can have mild or severe anemia (uh-NEE-me-uh). This condition is caused by a lower than normal number of red blood cells or not enough hemoglobin in the red blood cells.
Overview
Normal hemoglobin, also called hemoglobin A, has four protein chains—two alpha globin and two beta globin. The two major types of thalassemia, alpha and beta, are named after defects in these protein chains.
Four genes are needed to make enough alpha globin protein chains. Alpha thalassemia trait occurs when one or two of the four genes are missing. If more than two genes are missing, the result is moderate to severe anemia.
The most severe form of alpha thalassemia is known as alpha thalassemia major or hydrops fetalis. Babies with this disorder usually die before or shortly after birth.
Two genes (one from each parent) are needed to make enough beta globin protein chains. Beta thalassemia occurs when one or both genes are altered.
The severity of beta thalassemia depends on how badly one or both genes are affected. If both genes are affected, the result is moderate to severe anemia. The severe form of beta thalassemia also is known as thalassemia major or Cooley's anemia.
Thalassemias affect both males and females. They occur most often among people of Italian, Greek, Middle Eastern, Asian, and African descent. Severe forms usually are diagnosed in early childhood and are lifelong conditions.
Doctors diagnose thalassemias using blood tests. The disorders are treated with blood transfusions, medicines, and other procedures.
Outlook
Treatments for thalassemias have improved greatly in the past few years. People who have moderate and severe thalassemias are now living longer and have better quality of life than before.
However, complications from thalassemias and their treatments are frequent. People who have moderate or severe thalassemias must closely follow their treatment plans. They need to take care of themselves to remain as healthy as possible.
What Is Sickle Cell Anemia?
Sickle cell anemia (uh-NEE-me-uh) is a serious disease in which the body makes sickle-shaped red blood cells. “Sickle-shaped” means that the red blood cells are shaped like a "C."
Normal red blood cells are disc-shaped and look like doughnuts without holes in the center. They move easily through your blood vessels. Red blood cells contain the protein hemoglobin (HEE-muh-glow-bin). This iron-rich protein gives blood its red color and carries oxygen from the lungs to the rest of the body.
Sickle cells contain abnormal hemoglobin that causes the cells to have a sickle shape. Sickle-shaped cells don’t move easily through your blood vessels. They’re stiff and sticky and tend to form clumps and get stuck in the blood vessels. (Other cells also may play a role in this clumping process.)
The clumps of sickle cells block blood flow in the blood vessels that lead to the limbs and organs. Blocked blood vessels can cause pain, serious infections, and organ damage.
Normal and Sickled Red Blood Cells
Figure A shows normal red blood cells flowing freely in a blood vessel. The inset image shows a cross-section of a normal red blood cell with normal hemoglobin. Figure B shows abnormal, sickled red blood cells clumping and blocking blood flow in a blood vessel. (Other cells also may play a role in this clumping process.) The inset image shows a cross-section of a sickle cell with abnormal hemoglobin.
Overview
Sickle cell anemia is one type of anemia. Anemia is a condition in which your blood has a lower than normal number of red blood cells. This condition also can occur if your red blood cells don’t have enough hemoglobin.
Red blood cells are made in the spongy marrow inside the large bones of the body. Bone marrow is always making new red blood cells to replace old ones. Normal red blood cells last about 120 days in the bloodstream and then die. They carry oxygen and remove carbon dioxide (a waste product) from your body.
In sickle cell anemia, a lower-than-normal number of red blood cells occurs because sickle cells don’t last very long. Sickle cells usually die after only about 10 to 20 days. The bone marrow can’t make new red blood cells fast enough to replace the dying ones.
Sickle cell anemia is an inherited, lifelong disease. People who have the disease are born with it. They inherit two copies of the sickle cell gene—one from each parent.
People who inherit a sickle cell gene from one parent and a normal gene from the other parent have a condition called sickle cell trait. Sickle cell trait is different from sickle cell anemia. People who have sickle cell trait don’t have the disease, but they have one of the genes that cause it. Like people who have sickle cell anemia, people who have sickle cell trait can pass the gene to their children.
Outlook
Sickle cell anemia affects millions of people worldwide. The disease has no widely available cure. However, there are treatments for the symptoms and complications of the disease. Bone marrow transplants may offer a cure in a small number of cases.
Over the past 30 years, doctors have learned a great deal about sickle cell anemia. They know its causes, how it affects the body, and how to treat many of its complications.
Sickle cell anemia varies from person to person. Some people who have the disease have chronic (long-term) pain or fatigue (tiredness). However, with proper care and treatment, many people who have the disease can have improved quality of life and reasonable health much of the time.
Due to improved treatment and care, people who have sickle cell anemia are now living into their forties or fifties, or longer.
What Is Pulmonary Embolism?
A pulmonary embolism (PULL-mun-ary EM-bo-lizm), or PE, is a sudden blockage in a lung artery, usually due to a blood clot that traveled to the lung from a vein in the leg. A clot that forms in one part of the body and travels in the bloodstream to another part of the body is called an embolus.
PE is a serious condition that can cause:
Permanent damage to part of your lung from lack of blood flow to lung tissue
Low oxygen levels in your blood
Damage to other organs in your body from not getting enough oxygen
If the blood clot is large, or if there are many clots, PE can cause death.
Overview
In most cases, PE is a complication of a condition called deep vein thrombosis (DVT). In DVT, blood clots form in the deep veins of the body—most often in the legs. These clots can break free, travel through the bloodstream to the lungs, and block an artery.
This is unlike clots in the veins close the skin's surface, which remain in place and do not cause PE.
Outlook
At least 100,000 cases of PE occur each year in the United States. PE is the third most common cause of death in hospitalized patients. If left untreated, about 30 percent of patients with PE will die. Most of those who die do so within the first few hours of the event.
PE is a serious condition that can cause:
Permanent damage to part of your lung from lack of blood flow to lung tissue
Low oxygen levels in your blood
Damage to other organs in your body from not getting enough oxygen
If the blood clot is large, or if there are many clots, PE can cause death.
Overview
In most cases, PE is a complication of a condition called deep vein thrombosis (DVT). In DVT, blood clots form in the deep veins of the body—most often in the legs. These clots can break free, travel through the bloodstream to the lungs, and block an artery.
This is unlike clots in the veins close the skin's surface, which remain in place and do not cause PE.
Outlook
At least 100,000 cases of PE occur each year in the United States. PE is the third most common cause of death in hospitalized patients. If left untreated, about 30 percent of patients with PE will die. Most of those who die do so within the first few hours of the event.
What Is Polycythemia Vera?
Polycythemia (POL-e-si-THE-me-ah) vera (VAY-rah or VE-rah), or PV, is a rare blood disease in which your body makes too many red blood cells.
The extra red blood cells make your blood thicker than normal. As a result, blood clots can form more easily and block blood flow through your arteries and veins. This can lead to heart attack and stroke.
Thicker blood also flows more slowly to all parts of your body, preventing your organs from getting enough oxygen. This can cause other serious complications, such as angina (an-JI-nuh or AN-juh-nuh) and heart failure.
Overview
Red blood cells carry oxygen to all parts of your body. They also remove carbon dioxide (a waste product) from your body's cells and carry it to the lungs to be exhaled.
Red blood cells are made in your bone marrow-a sponge-like tissue inside the bones. White blood cells and platelets (PLATE-lets) also are made in your bone marrow. White blood cells help fight infection. Platelets help your blood clot.
If you have PV, your bone marrow makes too many red blood cells. It also can make too many white blood cells and platelets.
A mutation, or change, in the body's JAK2 gene is the major cause of PV. The JAK2 gene makes an important protein that helps the body produce blood cells. What causes the change in the JAK2 gene isn't known. PV generally isn't passed from parent to child.
PV develops slowly and may not cause symptoms for years. Thus, the disease often is found during routine blood tests done for other reasons.
When signs and symptoms do occur, they're the result of the thick blood that occurs with PV. This thickness slows the flow of oxygen-rich blood to all parts of your body. Without enough oxygen, many parts of your body won't work normally.
For example, slower blood flow deprives your arms, legs, lungs, and eyes of the oxygen they need. This can cause headaches, dizziness, itching, and vision problems, such as blurred or double vision.
Outlook
PV is a serious, chronic (ongoing) disease that can be fatal if not diagnosed and treated. PV can't be cured, but treatments can help control the disease and its complications.
PV is treated with procedures, medicines, and other methods. You may need one or more treatments to manage the disease.
The extra red blood cells make your blood thicker than normal. As a result, blood clots can form more easily and block blood flow through your arteries and veins. This can lead to heart attack and stroke.
Thicker blood also flows more slowly to all parts of your body, preventing your organs from getting enough oxygen. This can cause other serious complications, such as angina (an-JI-nuh or AN-juh-nuh) and heart failure.
Overview
Red blood cells carry oxygen to all parts of your body. They also remove carbon dioxide (a waste product) from your body's cells and carry it to the lungs to be exhaled.
Red blood cells are made in your bone marrow-a sponge-like tissue inside the bones. White blood cells and platelets (PLATE-lets) also are made in your bone marrow. White blood cells help fight infection. Platelets help your blood clot.
If you have PV, your bone marrow makes too many red blood cells. It also can make too many white blood cells and platelets.
A mutation, or change, in the body's JAK2 gene is the major cause of PV. The JAK2 gene makes an important protein that helps the body produce blood cells. What causes the change in the JAK2 gene isn't known. PV generally isn't passed from parent to child.
PV develops slowly and may not cause symptoms for years. Thus, the disease often is found during routine blood tests done for other reasons.
When signs and symptoms do occur, they're the result of the thick blood that occurs with PV. This thickness slows the flow of oxygen-rich blood to all parts of your body. Without enough oxygen, many parts of your body won't work normally.
For example, slower blood flow deprives your arms, legs, lungs, and eyes of the oxygen they need. This can cause headaches, dizziness, itching, and vision problems, such as blurred or double vision.
Outlook
PV is a serious, chronic (ongoing) disease that can be fatal if not diagnosed and treated. PV can't be cured, but treatments can help control the disease and its complications.
PV is treated with procedures, medicines, and other methods. You may need one or more treatments to manage the disease.
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