Wednesday, March 25, 2009
What Is von Willebrand Disease?
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.
What Is Thrombocytopenia?
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?
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 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?
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?
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.
What Is Pernicious Anemia?
Vitamin B12 is a nutrient found in certain foods. The body needs this nutrient to make healthy red blood cells and to keep its nervous system working properly.
People who have pernicious anemia can't absorb enough vitamin B12 from food due to a lack of intrinsic (in-TRIN-sik) factor, a protein made in the stomach. This leads to vitamin B12 deficiency.
Other conditions and factors also can cause vitamin B12 deficiency. Examples include infections, surgery, medicines, and diet. Technically, the term "pernicious anemia" refers to vitamin B12 deficiency due to lack of intrinsic factor. Often, vitamin B12 deficiency due to other causes also is called pernicious anemia.
This article discusses pernicious anemia due to a lack of intrinsic factor and other causes.
Overview
Pernicious anemia is a type of anemia (a condition in which your body has a lower than normal number of red blood cells). In pernicious anemia, the body can't make enough healthy red blood cells because it doesn't have enough vitamin B12.
Without enough vitamin B12, your red blood cells don't divide normally and are too large. They may have trouble getting out of the bone marrow—a sponge-like tissue inside the bones where blood cells are made.
Without enough red blood cells to carry oxygen to your body, you may feel tired and weak. Severe or long-lasting pernicious anemia can damage the heart, brain, and other organs in the body.
Pernicious anemia also can cause other complications, such as nerve damage, neurological problems (such as memory loss), and digestive tract problems. People who have pernicious anemia also may be at higher risk for stomach cancer.
Outlook
The condition is called pernicious ("deadly") anemia because it was often fatal in the past, before vitamin B12 treatments were available. Now, pernicious anemia usually is easy to treat with vitamin B12 pills or shots.
With ongoing care and proper treatment, most people who have pernicious anemia can recover, feel well, and live normal lives.
Without treatment, pernicious anemia can lead to serious problems with the heart, nerves, and other parts of the body. Some effects of the condition may be permanent.
What Is Iron-Deficiency Anemia?
Low iron levels usually are due to blood loss, poor diet, or an inability to absorb enough iron from foods.
Overview
Iron-deficiency anemia is a common type of anemia. The term "anemia" usually refers to a condition in which your blood has a lower than normal number of red blood cells. Red blood cells carry oxygen and remove carbon dioxide (a waste product) from your body.
Anemia also can occur if your red blood cells don’t contain enough hemoglobin (HEE-muh-glow-bin). Hemoglobin is an iron-rich protein that helps carry oxygen to your body.
Iron-deficiency anemia usually develops over time if your body doesn’t have enough iron to build healthy red blood cells. Without enough iron, your body starts using the iron it has stored. Soon, the stored iron gets used up.
After the stored iron is gone, your body makes fewer red blood cells. The red blood cells it does make will have less hemoglobin than normal.
Iron-deficiency anemia can cause fatigue (tiredness), shortness of breath, chest pain, and other symptoms. Severe iron-deficiency anemia can lead to heart problems, infections, problems with growth and development in children, and other complications.
People at highest risk for iron-deficiency anemia include infants and young children, women, and adults who have internal bleeding.
Outlook
Iron-deficiency anemia usually can be successfully treated. Treatment will depend on the cause and severity of the condition. Treatments may include changes to your diet, medicines, and surgery.
Severe iron-deficiency anemia may require treatment in a hospital, blood transfusions, iron injections, or intravenous iron therapy.
What Is Idiopathic Thrombocytopenic Purpura?
Idiopathic thrombocytopenic purpura (ITP) is a bleeding condition in which the blood doesn’t clot as it should. This is due to a low number of blood cells called platelets (PLATE-lets).
Platelets are also called thrombocytes (THROM-bo-sites), and they’re made in your bone marrow (along with other kinds of blood cells). Platelets circulate through the blood vessels and help stop bleeding by sticking together (clotting) to seal small cuts or breaks.
Idiopathic (id-ee-o-PATH-ick) means that the cause of the disease or condition isn’t known. Thrombocytopenic (throm-bo-cy-toe-PEE-nick) means there is a lower-than-normal number of platelets in the blood. Purpura (PURR-purr-ah) are purple bruises caused by bleeding under the skin. More extensive bleeding can create a three-dimensional mass called a hematoma (he-ma-TO-ma).
Purpura
The photograph show purpura (bruises) in the skin. Bleeding under the skin causes the purple, brown, and red color of the purpura.
People who have ITP often have purple bruises that appear on the skin or on the mucous membranes (for example, in the mouth). The bruises mean that bleeding has occurred in small blood vessels under the skin. A person who has ITP also may have bleeding that results in tiny red or purple dots on the skin. These dots, often seen on the lower legs, are called petechiae (peh-TEE-kee-ay). Petechiae may look like a rash.
People with ITP may have nosebleeds, bleeding from the gums when they have dental work done, or other bleeding that’s hard to stop. Women with ITP may have heavy menstrual bleeding.
Bleeding in the brain as a result of ITP is very rare, but can be life threatening if it occurs.
In most cases, the body’s immune system is thought to cause ITP. Normally your immune system helps your body fight off infections and diseases, but if you have ITP, your immune system attacks and destroys its own platelets—for an unknown reason.
Types of Idiopathic Thrombocytopenic Purpura
There are two types of ITP: acute (temporary or short-term) and chronic (long-lasting).
Acute ITP generally lasts less than 6 months. It mainly occurs in children, both boys and girls, and is the most common type of ITP. It often occurs after an infection caused by a virus.
Chronic ITP is long-lasting (6 months or longer) and mostly affects adults. However, some teenagers and even younger children can get this type of ITP. Chronic ITP affects women 2 to 3 times more often than men. Treatment depends on how severe the bleeding symptoms are and the platelet count. In mild cases, treatment may not be needed.
Outlook
For most children and adults, ITP isn’t a serious or life-threatening condition.
Acute ITP in children often goes away on its own within a few weeks or months and doesn’t return. In 80 percent of children who have ITP, the platelet count returns to normal within 6 to 12 months. Treatment may not be needed. A small number of children, about 5 percent, whose ITP doesn’t go away on its own may need to have further medical or surgical treatment.
Chronic ITP will vary with each individual and can last many years. Even people who have severe forms of chronic ITP can live for decades. Most people with chronic ITP are able at some point to stop treatment and keep a safe platelet count.
What Is Hemophilia?
People born with hemophilia have little to none of a protein needed for normal blood clotting. The protein is called a clotting factor. There are several types of clotting factors, and they work together with platelets to help the blood clot. Platelets are small pieces of blood cells that are formed in the bone marrow. They play a major role in blood clotting.
When blood vessels are injured, clotting factors help the platelets stick together to plug cuts and breaks at the site of the injury to stop the bleeding. Without clotting factors, normal blood clotting can’t take place. Sometimes people with hemophilia need injections of a clotting factor or factors to stop bleeding.
There are two main types of hemophilia. If you have hemophilia A, you have little to no clotting factor VIII (8). About 9 out of 10 people with hemophilia have type A. If you have hemophilia B, you’re missing or have low levels of clotting factor IX (9).
Hemophilia can be mild, moderate, or severe, depending on how much clotting factor is in the 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.
In addition to being inherited, hemophilia also can be acquired, which means that you can develop it during your lifetime. It can develop if your body forms antibodies to the clotting factors in your bloodstream. The antibodies can block the clotting factors from working. Only inherited hemophilia is discussed in this article.
About 18,000 people in the United States have hemophilia. Each year, about
400 babies are born with the disorder. Hemophilia usually occurs only in males (with very rare exceptions).
What Is Hemolytic Anemia?
Red blood cells are disc-shaped and look like doughnuts without holes in the center. These cells carry oxygen and remove carbon dioxide (a waste product) from your body. Red blood cells are made in the bone marrow—a sponge-like tissue inside the bones. They live for about 120 days in the bloodstream and then die.
White blood cells and platelets (PLATE-lets) also are made in the bone marrow. White blood cells help fight infection. Platelets stick together to seal small cuts or breaks on blood vessel walls and stop bleeding.
When blood cells die, the body's bone marrow makes more blood cells to replace them. However, in hemolytic anemia, the bone marrow can't make red blood cells fast enough to meet the body's needs.
Hemolytic anemia can lead to various health problems, such as fatigue (tiredness), pain, arrhythmias (ah-RITH-me-ahs), an enlarged heart, and heart failure.
Overview
Hemolytic anemia is a type of anemia. The term "anemia" usually refers to 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 contain enough hemoglobin (HEE-muh-glow-bin). This iron-rich protein helps carry oxygen to your body.
Anemia has three main causes: blood loss, lack of red blood cell production, or high rates of red blood cell destruction.
Hemolytic anemia is due to high rates of red blood cell destruction. A number of diseases, conditions, and factors can cause the body to destroy its red blood cells.
These causes can be inherited or acquired. "Inherited" means your parents passed the gene for the condition on to you. "Acquired" means you aren't born with the condition, but you develop it. Sometimes the cause of hemolytic anemia isn't known.
Outlook
There are many types of hemolytic anemia. Treatment and outlook depend on what type you have and how severe it is. The condition can develop suddenly or slowly. Symptoms can range from mild to severe.
Hemolytic anemia often can be successfully treated or controlled. Mild hemolytic anemia may need no treatment at all. Severe hemolytic anemia requires prompt and proper treatment or it may be fatal.
Inherited forms of hemolytic anemia are lifelong conditions that may require ongoing treatment. Acquired forms of anemia may go away if the cause of the condition is found and corrected.
What Is Hemochromatosis?
Too much iron is toxic to your body. It can poison your organs and cause organ failure. In hemochromatosis, iron can build up in most of your body's organs, but especially in the liver, heart, and pancreas.
Too much iron in the liver can cause an enlarged liver, liver failure, liver cancer, or cirrhosis (sir-RO-sis). Cirrhosis is scarring of the liver, which causes it to not work properly.
Too much iron in the heart can cause arrhythmias (ah-RITH-me-ahs), or irregular heartbeats, and heart failure. Too much iron in the pancreas can lead to diabetes.
If hemochromatosis isn't treated, it may even cause death.
Overview
There are two types of hemochromatosis: primary and secondary. A defect in the genes that control how much iron you absorb from food causes primary hemochromatosis. Secondary hemochromatosis usually is the result of another disease or condition that causes iron overload.
Most people who have primary hemochromatosis inherit it from their parents. If you inherit two hemochromatosis genes—one from each parent—you're at risk for iron overload and signs and symptoms of the disease. The two faulty genes cause your body to absorb more iron than usual from the foods you eat.
Hemochromatosis is one of the most common genetic disorders in the United States. About 1 million people in the United States have the disease.
Not everyone who has hemochromatosis has signs or symptoms of the disease. Estimates of how many people develop signs and symptoms vary greatly. Some estimates suggest that as many as half of all people who have the disease don't have signs or symptoms.
The severity of hemochromatosis also varies from person to person. Some people don't have complications, even with high amounts of iron in their bodies. Others have severe complications or die from the disease.
Certain factors can affect how severe the disease is. For example, a high intake of vitamin C can make hemochromatosis worse. This is because vitamin C helps your body absorb iron from food.
Alcohol use can worsen liver damage and cirrhosis caused by hemochromatosis. Conditions such as hepatitis also can further damage or weaken the liver.
Outlook
The outlook for people who have hemochromatosis largely depends on how much organ damage they have at the time of diagnosis. Early diagnosis and treatment of the disease are important.
Treatment may help prevent, delay, or sometimes reverse complications of the disease. Treatment also may lead to better quality of life.
For people who are diagnosed and treated early, a normal lifespan is possible. If left untreated, hemochromatosis can lead to severe organ damage and even death.
What Is Fanconi Anemia?
FA is a blood disorder, but it also can affect many of your body's organs, tissues, and systems. Children who inherit FA are at higher risk of being born with birth defects. People with FA are at higher risk for some cancers and other serious health problems.
FA is different from Fanconi syndrome. Fanconi syndrome affects a person's kidneys. It's a rare and serious condition found mostly in children. Children with Fanconi syndrome pass high amounts of key nutrients and chemicals through their urine, which leads to serious health and developmental problems.
Bone Marrow and Your Blood
Bone marrow is the spongy red tissue inside the large bones of your body. Healthy bone marrow makes three types of blood cells:
Red blood cells (also called RBCs), which 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.
White blood cells (also called WBCs), which help your body fight infections.
Platelets, which help your blood clot.
Blood cells live for a limited time. Then, they are replaced with new blood cells from your bone marrow. If your bone marrow can't make enough new blood cells to replace the ones that die, you can suffer from serious health problems.
Fanconi Anemia and Your Body
FA is one of many different types of anemia. The term “anemia” is used to describe conditions in which the number of red blood cells in a person's blood is lower than normal.
FA is a type of aplastic anemia. In aplastic anemia, the bone marrow slows down or stops making all three types of blood cells. Low levels of the three blood cell types can harm many of the body's organs, tissues, and systems.
With too few red blood cells, your body's tissues won't receive enough oxygen to work well.
With too few white blood cells, your body may have problems fighting infections. This can make you sick more often and make infections worse.
With too few platelets, you may suffer from excessive bleeding.
Outlook
If you or your child has FA, you face a greater risk than other people for some cancers. About 10 percent of people with FA develop leukemia, a type of blood cancer.
People with FA who survive to be adults are much more likely than others to develop cancerous solid tumors. The risk for solid tumors increases with age in those who have FA. These tumors can develop in your mouth, tongue, throat, or esophagus (the tube leading from your mouth to your stomach). Women who have FA are at much greater risk than women who don't have the disease for developing tumors in the reproductive organs.
FA is an unpredictable disease. The average life span for people who have FA is between 20 and 30 years. The most common causes of death related to FA are bone marrow failure, leukemia, and solid tumors.
New medical advances have improved the chances of surviving FA. Bone marrow transplant is the major advance in treatment. However, even with a bone marrow transplant, the risk for some cancers is greater in people who have FA.
What Is Deep Vein Thrombosis?
Most deep vein blood clots occur in the lower leg or thigh. They also can occur in other parts of the body.
A blood clot in a deep vein can break off and travel through the bloodstream. The loose clot is called an embolus. When the clot travels to the lungs and blocks blood flow, the condition is called pulmonary embolism (PULL-mun-ary EM-bo-lizm), or PE.
PE is a very serious condition. It can damage the lungs and other organs in the body and cause death.
Blood clots in the thigh are more likely to break off and cause PE than blood clots in the lower leg or other parts of the body.
Blood clots also can form in the veins closer to the skin's surface. However, these clots won't break off and cause PE.
The animation below shows a deep vein blood clot. Click the "start" button to play the animation. Written and spoken explanations are provided with each frame. Use the buttons in the lower right corner to pause, restart, or replay the animation, or use the scroll bar below the buttons to move through the frames.
What Is a Blood Transfusion ?
During a blood transfusion, a small needle is used to insert an IV line into one of your blood vessels. Through this line, you receive healthy blood. The procedure usually takes 1 to 4 hours, depending on how much blood you need.
Blood transfusions are very common. Each year, almost 5 million Americans need a blood transfusion. Most blood transfusions go well. Mild complications can occur. Very rarely, serious problems develop.
Important Information About Blood
The heart pumps blood through a network of arteries and veins throughout the body. Blood has many vital jobs. It carries oxygen and other nutrients to your body's organs and tissues. Having a healthy supply of blood is important to your overall health.
Blood is made up of various parts, including red blood cells, white blood cells, platelets (PLATE-lets), and plasma. Blood is transfused either as whole blood (with all its parts) or, more often, as individual parts.
Blood Types
Every person has one of the following blood types: A, B, AB, or O. Also, every person's blood is either Rh-positive or Rh-negative. So, if you have type A blood, it's either A positive or A negative.
The blood used in a transfusion must work with your blood type. If it doesn't, antibodies (proteins) in your blood attack the new blood and make you sick.
Type O blood is safe for almost everyone. About 40 percent the population has type O blood. People with this blood type are called universal donors. Type O blood is used for emergencies when there's no time to test a person's blood type.
People with type AB blood are called universal recipients. This means they can get any type of blood.
If you have Rh-positive blood, you can get Rh-positive or Rh-negative blood. But if you have Rh-negative blood, you should get only Rh-negative blood. Rh-negative blood is used for emergencies when there's no time to test a person's Rh type.
Blood Banks
Blood banks collect, test, and store blood. They carefully screen all donated blood for possible infectious agents, such as viruses that could make you sick. (See "What Are the Risks of a Blood Transfusion" for more information.)
Blood bank staff also screen each blood donation to find out whether it's A, B, AB, or O and whether it's Rh-positive or Rh-negative. Getting a blood type that doesn't work with your own blood type will make you very sick. That's why blood banks are very careful when they test the blood.
To prepare blood for a transfusion, some blood banks remove white blood cells. This process is called white cell or leukocyte (LU-ko-site) reduction. Although rare, some people are allergic to white blood cells in donated blood. Removing these cells makes allergic reactions less likely.
Not all transfusions use blood donated from a stranger. If you're going to have surgery, you may need a blood transfusion because of blood loss during the operation. If it's surgery that you're able to schedule months in advance, your doctor may ask whether you would like to use your own blood, rather than donated blood.
If you choose to use your own blood, you will need to have blood drawn a few times prior to the surgery. A blood bank will store your blood for your use.
Alternatives to Blood Transfusions
Researchers are trying to find ways to make blood. There is currently no man-made alternative to human blood. However, researchers have developed medicines that may help do the job of some blood parts.
For example, some patients with kidney problems can now take a medicine called erythropoietin that helps their bodies make more red blood cells. This means they may need fewer blood transfusions.
Surgeons try to reduce the amount of blood lost during surgery so that fewer patients need blood transfusions. Sometimes they can collect and reuse the blood for the patient.
What Is Aplastic Anemia?
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. White blood cells help your body fight infections. Platelets are blood cell fragments that stick together to seal small cuts or breaks on blood vessel walls and stop bleeding.
It's normal for blood cells to die. The lifespan of red blood cells is about 120 days. White blood cells live less than 1 day. Platelets live about 6 days. As a result, your bone marrow must constantly make new blood cells.
If your bone marrow is unable to make enough new blood cells, a number of health problems can occur. These include arrhythmias (ah-RITH-me-ahs), an enlarged heart, heart failure, infections, and bleeding. Severe aplastic anemia can even cause death.
Overview
Aplastic anemia is a type of anemia. The term "anemia" usually refers to a condition in which your blood has a lower than normal number of red blood cells. Anemia also can occur if your red blood cells don't contain enough hemoglobin (HEE-muh-glow-bin). This iron-rich protein helps carry oxygen to your body.
In people who have aplastic anemia, the body doesn't make enough red blood cells, white blood cells, or platelets. This is because the bone marrow's stem cells are damaged. (Aplastic anemia also is sometimes called bone marrow failure.)
A number of diseases, conditions, and factors can cause damage to the stem cells. These causes can be acquired or inherited. "Acquired" means you aren't born with the condition, but you develop it. "Inherited" means your parents passed the gene for the condition on to you.
In more than half of the people who have aplastic anemia, the cause is unknown.
Outlook
Aplastic anemia is a rare, but serious disorder. In the United States, about 500-1,000 people develop this type of anemia each year. The disorder is two to three times more common in Asian countries.
Aplastic anemia can develop suddenly or slowly. It tends to get worse over time, unless its cause is found and treated. Treatments for aplastic anemia include blood transfusions, blood and marrow stem cell transplants, and medicines.
With prompt and proper care, many people who have aplastic anemia can be successfully treated. Blood and marrow stem cell transplants may offer a cure for some people who have aplastic anemia.
What Is Anemia?
If you have anemia, your body doesn’t get enough oxygen-rich blood. As a result, you may feel tired and have other symptoms. With severe or long-lasting anemia, the lack of oxygen in the blood can damage the heart, brain, and other organs of the body. Very severe anemia may even cause death.
Overview
Red blood cells are disc-shaped and look like doughnuts without holes in the center. They carry oxygen and remove carbon dioxide (a waste product) from your body. These cells are made in the bone marrow—a sponge-like tissue inside the bones. Red blood cells live for about 120 days in the bloodstream and then die.
White blood cells and platelets (PLATE-lets) also are made in the bone marrow. White blood cells help fight infection. Platelets stick together to seal small cuts or breaks on the blood vessel walls and stop bleeding. With some types of anemia, you may have low numbers of all three types of blood cells.
Anemia has three main causes: blood loss, lack of red blood cell production, or high rates of red blood cell destruction. These causes may be due to a number of diseases, conditions, or other factors.
Outlook
Many types of anemia can be mild, short term, and easily treated. Some types can even be prevented with a healthy diet. Other types can be treated with dietary supplements.
However, certain types of anemia may be severe, long lasting, and life threatening if not diagnosed and treated.
If you have signs and symptoms of anemia, you should see your doctor to find out whether you have the condition. Treatment will depend on what has caused the anemia and how severe it is.