What is the Imumune System

 

What is the Immune System?

The immune system is a network of cells, tissues, and organs that work together to defend the body against attacks by “foreign” invaders. These are primarily microbes—tiny organisms such as bacteria, parasites, and fungi that can cause infections. Viruses also cause infections, but are too primitive to be classified as living organisms. The human body provides an ideal environment for many microbes. It is the immune system’s job to keep them out or, failing that, to seek out and destroy them.

When the immune system hits the wrong target, however, it can unleash a torrent of disorders, including allergic diseases, arthritis, and a form of diabetes. If the immune system is crippled, other kinds of diseases result.

The immune system is amazingly complex. It can recognize and remember millions of different enemies, and it can produce secretions (release of fluids) and cells to match up with and wipe out nearly all of them.

The secret to its success is an elaborate and dynamic communications network. Millions and millions of cells, organized into sets and subsets, gather like clouds of bees swarming around a hive and pass information back and forth in response to an infection. Once immune cells receive the alarm, they become activated and begin to produce powerful chemicals. These substances allow the cells to regulate their own growth and behavior, enlist other immune cells, and direct the new recruits to trouble spots.

Although scientists have learned much about the immune system, they continue to study how the body launches attacks that destroy invading microbes, infected cells, and tumors while ignoring healthy tissues. New technologies for identifying individual immune cells are now allowing scientists to determine quickly which targets are triggering an immune response. Improvements in microscopy are permitting the first-ever observations of living B cells, T cells, and other cells as they interact within lymph nodes and other body tissues.

In addition, scientists are rapidly unraveling the genetic blueprints that direct the human immune response, as well as those that dictate the biology of bacteria, viruses, and parasites. The combination of new technology and expanded genetic information will no doubt reveal even more about how the body protects itself from disease.

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Mastocytosis

Mastocytosis is a disorder that may occur in both children and adults. It is caused by the presence of too many mast cells in your body. You can find mast cells in skin, lymph nodes, internal organs (such as the liver and spleen) and the linings of the lung, stomach, and intestine. Mast cells play an important role in helping your immune system defend these tissues from disease. Mast cells attract other key players of the immune defense system to areas of your body where they are needed by releasing chemical “alarms” such as histamine and cytokines.

Mastocytosis is a disorder that may occur in both children and adults. It is caused by the presence of too many mast cells in your body. You can find mast cells in skin, lymph nodes, internal organs (such as the liver and spleen) and the linings of the lung, stomach, and intestine. Mast cells play an important role in helping your immune system defend these tissues from disease. Mast cells attract other key players of the immune defense system to areas of your body where they are needed by releasing chemical “alarms” such as histamine and cytokines.

Mast cells seem to have other roles as well. Found to gather around wounds, they may play a part in wound healing. For example, the typical itching you feel around a healing scab may be caused by histamine released by mast cells. Researchers also think mast cells may have a role in the growth of blood vessels. No one with too few or no mast cells has ever been found. This fact indicates to some scientists that having too few mast cells may be incompatible with life.

The presence of too many mast cells, or mastocytosis, can occur in two forms—cutaneous and systemic. The most common cutaneous (skin) form is also called urticaria pigmentosa, which occurs when mast cells infiltrate the skin. Systemic mastocytosis is caused by mast cells accumulating in the tissues and can affect organs such as the liver, spleen, bone marrow, and small intestine.

Researchers first described urticaria pigmentosa in 1869. Systemic mastocytosis was first reported in the scientific literature in 1949. The true number of cases of either type of mastocytosis remains unknown, but mastocytosis generally is considered to be an “orphan disease.” (Orphan diseases affect approximately 200,000 or fewer people in the United States.)
Symptoms
Chemicals released by mast cells cause changes in your body’s functioning that lead to typical allergic responses such as flushing, itching, abdominal cramping, and even shock. When too many mast cells are in your body, the additional chemicals can cause:

Musculoskeletal pain
Abdominal discomfort
Nausea and vomiting
Ulcers
Diarrhea
Skin lesions

It can also cause episodes of hypotension (very low blood pressure and faintness) or anaphylaxis (shock).Diagnosis
Your doctor can diagnose cutaneous mastocytosis by the appearance of your skin and confirm it by finding an abnormally high number of mast cells on a skin biopsy. The diagnosis of systemic mastocytosis is made when an increased number of abnormal mast cells is found during an examination of your bone marrow.

Other tests that are important in evaluating a suspected case of mastocytosis include measurement of a protein (tryptase) from mast cells in your blood and a search for specific genetic mutations that health experts associate with this disease.Doctors use several medicines to treat mastocytosis symptoms, including antihistamines (to prevent the effect of mast cell histamine) and anticholinergics (to relieve intestinal cramping). A number of medicines treat specific symptoms of mastocytosis.

Antihistamines frequently treat itching and other skin complaints
Certain antihistamines work specifically against ulcers; proton pump inhibitors also relieve ulcer-like symptoms
Two types of antihistamines treat severe flushing and low blood pressure before symptoms appear; epinephrine can treat these symptoms after they begin
Topical steroids temporarily reduce skin lesions that are cosmetically disturbing
Steroids treat malabsorption, or impaired ability to take in nutrients

In cases in which mastocytosis is malignant, cancerous, or associated with a blood disorder, steroids and/or chemotherapy may be necessary.
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What is Anemia?

Anemia (uh-NEE-me-eh) 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 contain enough hemoglobin (HEE-muh-glow-bin). Hemoglobin is an iron-rich protein that gives blood its red color. This protein helps red blood cells carry oxygen from the lungs to the rest of the body.

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.

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Anemia of Inflammation and Chronic Disease (AI/ACD)

What is anemia?

Anemia is a condition in which the blood has a lower-than-normal number of red blood cells (RBCs). RBCs contain hemoglobin, an iron-rich protein that gives blood its red color and allows RBCs to transport oxygen from the lungs to the tissues of the body. Because RBC numbers are low in anemia, blood hemoglobin levels are also low.

People with anemia may feel tired because their blood does not supply enough oxygen to the body’s organs and tissues. If anemia becomes severe and prolonged, the lack of oxygen in the blood can lead to shortness of breath or exercise intolerance—a condition in which a person becomes easily fatigued during or after physical activity—and eventually cause the heart and other organs to fail.

What is anemia of inflammation and chronic disease (AI/ACD)?

AI/ACD is a type of anemia that commonly occurs with chronic, or long-term, illnesses or infections. Cancer and inflammatory disorders, in which abnormal activation of the immune system occurs, can also cause AI/ACD. Some people develop AI/ACD without having any signs of these health problems.

AI/ACD is easily confused with iron-deficiency anemia because in both forms of anemia, levels of iron circulating in the blood are low. Circulating iron is necessary for RBC production. Low blood iron levels occur in iron-deficiency anemia because levels of iron stored in the body’s tissues are depleted. In AI/ACD, however, iron stores are normal or high. Low blood levels occur in AI/ACD, despite normal iron stores, because inflammatory and chronic diseases interfere with the body’s ability to use stored iron and absorb iron from the diet. Certain treatments for chronic diseases may also impair RBC production and contribute to AI/ACD. AI/ACD is the second most common form of anemia, after iron-deficiency anemia, but it is rarely severe.

While AI/ACD can affect people at any age, older adults are especially susceptible because they have the highest rates of chronic disease. AI/ACD is also common among hospitalized patients, particularly those with chronic illnesses.

More than 130 million Americans live with chronic conditions. Addressing the causes of anemia in people with chronic conditions can help improve their health and quality of life.

What causes AI/ACD?

A number of chronic diseases can cause anemia for different reasons.

Infectious and inflammatory diseases. As part of the immune response that occurs with infection and noninfectious inflammatory diseases, cells of the immune system release proteins called cytokines. These proteins help heal and defend the body against infection. But they can also affect normal body functions. In AI/ACD, immune cytokines interfere with the body’s ability to absorb and use iron. Cytokines may also interfere with the production and normal activity of erythropoietin (EPO), a hormone made by the kidneys that stimulates bone marrow to produce RBCs.

Infectious diseases that cause AI/ACD include tuberculosis, HIV, endocarditis—infection in the heart—and osteomyelitis, a bone infection. Sometimes acute infections—those that develop quickly and may not last long—can also cause AI/ACD.

Inflammatory diseases that can lead to AI/ACD include rheumatoid arthritis, lupus, diabetes, heart failure, degenerative joint disease, and inflammatory bowel disease (IBD). IBD, including Crohn’s disease, can also cause iron deficiency due to poor absorption of iron by the diseased intestine and bleeding from the gastrointestinal tract.

Kidney disease. People with kidney disease can develop anemia for several different reasons. For one, diseased kidneys often fail to make enough EPO. In addition, kidney disease results in abnormal absorption and use of iron, which is typical of AI/ACD. Because anemia worsens as kidney disease advances, nearly everyone with end-stage kidney disease has anemia.

People with kidney failure can also develop iron deficiency due to blood loss during hemodialysis, a procedure that removes blood from an artery, purifies it, and returns it to a vein, thereby doing the job that the kidneys no longer can. Low levels of iron and of folic acid—another nutrient required for normal RBC production—may also contribute to anemia in people with kidney disease.

Cancer. AI/ACD can occur with certain types of cancer, including Hodgkin’s disease, non-Hodgkin’s lymphoma, and breast cancer. Like chronic inflammatory disorders and infections, these types of cancer cause inflammatory cytokines to be released in the body. The anemia of AI/ACD can also be made worse by cancer chemotherapy and radiation treatments that damage the bone marrow—where RBCs are produced—and by the cancer’s invasion of bone marrow.

What are the symptoms of AI/ACD?

AI/ACD typically develops slowly and, because it is usually mild, may cause few or no symptoms. Or its symptoms may be masked by the symptoms of the underlying disease. Sometimes AI/ACD can cause or contribute to

tiredness
low energy and listlessness
weakness
pale skin
fast heartbeat
shortness of breath
exercise intolerance

How is AI/ACD diagnosed?

Health care providers can test people with chronic illnesses for AI/ACD during their regular appointments. A complete blood count (CBC)—a laboratory test performed on a sample of a patient’s blood—can reveal anemia by determining the hematocrit level, which reflects the number of RBCs in the blood. A CBC also measures the level of blood hemoglobin. Low hematocrit and hemoglobin levels indicate anemia. Blood tests can also show low iron levels in the blood but normal measures of iron stores in the body—a hallmark of AI/ACD.

How is AI/ACD treated?

AI/ACD often is not treated separately from the condition with which it occurs. In general, doctors focus on treating the underlying illness. If this treatment is successful, the anemia usually resolves. For example, antibiotics prescribed for infection and anti-inflammatory drugs prescribed for rheumatoid arthritis or IBD can cause the anemia of AI/ACD to disappear. However, AI/ACD is increasingly being viewed as a medical condition that merits direct treatment.

For people with cancer or kidney disease who have low levels of EPO, a synthetic form of this normal hormone may be prescribed. People with kidney disease and AI/ACD may also be advised to take vitamin B12 and folic acid supplements. If iron deficiency has a role in causing the anemia, iron supplements may be given.

Points to Remember

Anemia is a condition in which the blood has a lower-than-normal number of red blood cells, which carry oxygen from the lungs to the body’s organs and tissues.
Anemia of inflammation and chronic disease (AI/ACD) commonly occurs with chronic illnesses, infections, inflammatory disorders, and cancer.
AI/ACD is usually mild and may cause no symptoms or may contribute to tiredness, low energy, weakness, shortness of breath, and exercise intolerance.
AI/ACD is diagnosed through blood tests.
AI/ACD often is not treated separately from the condition with which it occurs. In general, doctors have focused on treating the underlying illness but may treat the anemia directly more often in the future.

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Polycythemia Vera

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.

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Aplastic Anemia and Myelodysplasia

What are aplastic anemia and MDS?

Aplastic anemia and myelodysplastic syndromes (MDS) are rare and serious disorders that affect the bone marrow and blood.

In both disorders, bone marrow doesn’t produce enough healthy red or white blood cells or platelets. Red blood cells contain hemoglobin, an iron-rich protein that gives blood its red color and carries oxygen from the lungs to the tissues of the body. White blood cells help fight infection. Too few functioning red and white blood cells can lead to fatigue and infection. Platelets are cells that help blood clot. Too few platelets can lead to spontaneous or uncontrolled bleeding.

Anemia most often describes a condition in which a person has too few red blood cells or cells that do not carry enough hemoglobin. In aplastic anemia, however, normal production of all blood cells—red cells, white cells, and platelets—slows or stops. Blood cell production declines because bone marrow stem cells—the cells that give rise to all three types of mature blood cells—are damaged. The number of stem cells also declines because they are unable to replicate themselves. Although production of mature blood cells is seriously impaired in aplastic anemia, the few blood cells that mature and enter the bloodstream are normal.

Aplastic anemia most often affects children and young adults. Between 500 and 1,000 people in the United States develop aplastic anemia each year.

In MDS, a shortage of bone marrow stem cells usually doesn’t occur, as it does in aplastic anemia. But the stem cells are defective and do not mature normally. Progenitor cells and immature blood cells are deformed and fail to develop into healthy, mature red or white blood cells or platelets. These cells often die in the bone marrow. Many of the blood cells that do enter the bloodstream don’t survive or function normally.

Some forms of MDS are prone to develop into leukemia, an aggressive blood cancer. Between 7,000 and 12,000 people, mostly older adults, develop MDS each year.

Blood Cell Production

All three types of blood cells begin as unspecialized stem cells. Stem cells divide and produce more stem cells or can evolve through a series of stages into mature, specialized blood cells of any type. Early in the maturation process, “progenitor” cells emerge from stem cells. Unlike stem cells, progenitor cells are committed to develop into only one blood cell type and evolve into mature red or white blood cells or platelets.

What causes aplastic anemia and MDS?

Although the cause of aplastic anemia or MDS usually can’t be determined, the diseases may be triggered by exposure to

chemotherapy
radiation therapy
high levels of ionizing radiation—the type produced by high power x-ray machines and in nuclear power plants
benzene, a chemical used in some manufacturing processes
toxic chemicals found in some pesticides
certain viral infections
In most cases of aplastic anemia, these or other unknown triggers provoke the body’s own immune system to destroy the bone marrow stem cells. Certain rare inherited disorders can also lead to aplastic anemia and uncommon forms of MDS seen in children.

What are the symptoms of aplastic anemia and MDS?

Symptoms vary depending on the individual and the severity and type of disease. Symptoms may include

tiredness, or fatigue
weakness
excessive bleeding
pinpoint red spots on the skin caused by bleeding from small blood vessels
easy bruising
frequent infections
fevers
pale skin
shortness of breath
Because many of these symptoms resemble those of other illnesses, a professional evaluation from a specialist is important. MDS often does not cause symptoms at first and may be discovered through a routine blood test.

How are aplastic anemia and MDS diagnosed?

In addition to a medical history and physical exam, doctors use blood tests and a bone marrow biopsy to diagnose aplastic anemia or MDS.

Blood tests. A complete blood count is usually the first test a doctor uses to detect aplastic anemia or MDS. This test measures the number of red blood cells, white blood cells, and platelets in the blood. It also looks at the amount of hemoglobin in the red blood cells. Lower-than-normal quantities of one or more blood cell types may suggest aplastic anemia or MDS.

In another test called a peripheral blood smear, the doctor examines a sample of blood for unusual changes in the size, shape, and appearance of the blood cells. These cells usually appear normal in aplastic anemia but may be abnormal in MDS.

Biopsy. A bone marrow biopsy is needed to confirm the diagnosis of aplastic anemia or MDS. This test usually involves removing a small sample of bone marrow by inserting a needle into the hip bone. A doctor then examines the bone marrow for the number and type of blood progenitor cells and for the presence of abnormal cells.

How are aplastic anemia and MDS treated?

Aplastic Anemia Treatment

People with mild or moderate aplastic anemia may not need treatment at first. However, people with severe aplastic anemia need immediate medical treatment to prevent or reverse complications from very low blood cell levels.

Blood transfusions. Transfusions of red blood cells or platelets, in which healthy cells from a donor with the same blood type are injected into a patient’s vein, can raise blood cell counts and relieve symptoms. But transfusions are not a cure.

Most people with aplastic anemia require repeated transfusions, which can lead to complications. Over time, the body may develop antibodies that damage or destroy donor blood cells. And iron from transfused red blood cells can build up in the body and damage organs unless the excess iron is removed with drugs called iron chelators.

Stem cell transplant. Stem cell transplants, which replace damaged stem cells in bone marrow with healthy stem cells from a donor’s blood or bone marrow, can cure aplastic anemia. However, this form of treatment is usually limited to people younger than 40 to 50 with an available donor—usually a brother or sister—whose bone marrow cells are tested and found to “match” those of the patient.

Before the transplant, the patient’s own bone marrow cells are eliminated by chemotherapy and sometimes radiation. Doctors remove stem cells from the donor’s blood or bone marrow and freeze them for storage. After chemotherapy, the doctor gives the patient the thawed stem cells through a blood infusion. The stem cells then travel to the bone marrow where they re-establish and maintain normal blood cell production.

Stem cell transplants are usually reserved for people with severe aplastic anemia and are most successful in children and young adults with matched donors. Older adults are less able to tolerate the treatments used to prepare the body for transplant and are more likely to develop severe post-transplant complications.

Medications. Doctors often prescribe one or more medications that suppress the immune system and reduce damage to bone marrow cells. These drugs may allow the marrow to start making blood cells again and reduce or eliminate the need for transfusions. In some people, blood counts return to normal. These “immunosuppressive” drugs are the preferred form of treatment for older adults and for young patients who don’t have a matched stem cell donor.

Adjunct drug therapy may include erythropoietin (EPO), a man-made version of a natural hormone that stimulates the production of red blood cells, or granulocyte-colony stimulating factor (G-CSF), which stimulates white blood cell production. Antibiotics are often used if infections occur.

MDS Treatment

Stem cell transplants are not routinely performed for MDS because most people with MDS are older adults and thus ineligible for this form of treatment. For younger people with a matched sibling donor, however, a transplant may offer a cure. No other potential cures for MDS currently exist. Treatment options, which may be used alone or in combination, include the following:

Supportive care. Traditionally the first line of treatment, supportive care aims to manage the symptoms of the disease. This approach may include blood transfusions and drug therapy with EPO, G-CSF, and antibiotics.

Medications. Three recently developed drugs—azacitidine (Vidaza), lenalidomide (Revlimid), and decitabine (Dacogen)—may help the bone marrow function more normally, reducing the need for transfusions. Azacitidine and decitabine are used to treat all forms of MDS, while lenalidomide is used to treat only one specific type of MDS. Some people may also benefit from immunosuppressive drugs.

Chemotherapy. Chemotherapy is sometimes used in an effort to destroy defective blood progenitor cells in severe MDS and allow the few remaining normal blood stem cells to re-establish normal blood cell production. This approach is often not effective over the long term.

Experimental stem cell transplants. New techniques that use a less toxic pretransplant regimen are being developed. Since the regimen may be better tolerated by older adults, it may allow stem cell transplants to be more widely used as a treatment for MDS.

Points to Remember

Aplastic anemia and myelodysplastic syndromes (MDS) are rare and serious disorders in which bone marrow doesn’t produce enough healthy red or white blood cells or platelets.

Symptoms of aplastic anemia and MDS include fatigue, excessive bleeding, easy bruising, frequent infections, and shortness of breath.

Both diseases are diagnosed through blood tests and a bone marrow biopsy.

Aplastic anemia is treated with blood transfusions, immunosuppressive drugs, or stem cell transplants. Immunosuppressive medications improve blood counts in most people. Stem cell transplants can cure aplastic anemia but require a matched bone marrow donor and are usually limited to people younger than 40 to 50.

MDS is usually treated with blood transfusions and medication. Stem cell transplants are not often used, but new techniques may allow this form of treatment to be more widely used.

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Hereditary Bleeding Disorders

Hemophilia

Hemophilia is an inherited bleeding disorder that affects 18,000 persons (primarily males) in the United States. The disorder results from deficiencies in blood clotting factors and can lead to spontaneous internal bleeding and bleeding following injuries or surgery. These bleeding episodes can cause severe joint damage, neurological damage, damage to other organ systems involved in the hemorrhage, and, in rare cases, death. Treating the bleeding episodes involves the prompt and proper use of clotting factor concentrates.

von Willebrand disease

The most common bleeding disorder is von Willebrand disease (vWD), which is found in approximately 1-2% of the U.S. population. VWD results from a deficiency or defect in the body’s ability to make von Willebrand factor, a protein that helps blood clot. Although VWD occurs in men and women equally, women are more likely to notice the symptoms because of heavy or abnormal bleeding during their menstrual periods and after childbirth.

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Bleeding and Clotting Disorders in Women

Bleeding and clotting disorders pose important problems for women because of the relationship of these disorders to reproductive issues. These problems include heavy menstrual bleeding (termed menorrhagia), bleeding and clotting complications of pregnancy, and recurrent fetal loss.

Menorrhagia can be incapacitating for some women and may suggest a bleeding disorder. Current research supports the hypothesis that a significant number of cases of unexplained menorrhagia may be due to an underlying bleeding disorder. Other symptoms of a bleeding disorder might include unusually hard-to-control bleeding after minor injury, childbirth, or surgery; excessive bleeding from the gums after flossing, brushing, or having a tooth removed; frequent or long nosebleeds; and easy bruising.

The most common bleeding disorder is von Willebrand disease (VWD). VWD results from a deficiency or defect in the body’s ability to make von Willebrand factor, a protein that helps blood clot. Although VWD occurs in men and women equally, women are more likely to notice the symptoms because of heavy or abnormal bleeding during their menstrual periods and after childbirth.

The American College of Obstetricians and Gynecologists has made recommendations to screen women with menorrhagia for VWD.* Women who should be tested include.

adolescents with severe menorrhagia (they should be tested before hormone therapy is prescribed)

adult women with significant menorrhagia that cannot be explained by other causes

women who are about to have hysterectomies for excessive menstrual bleeding

Although there is no cure for these bleeding disorders, treatment is available to control symptoms once a disorder is identified. Bleeding can be controlled with medications.

CDC

Thrombophilia / Clotting Disorders

Hereditary defects in one or more of the clotting factors can cause the formation of potentially dangerous blood clots (thrombosis). Approximately 5-8% of the U.S. population has one of these clotting disorders collectively called thrombophilia, a propensity for blood clotting in which a genetic defect can be identified that often results in thrombosis.

More than 60,000 Americans die each year from venous thromboembolism; in addition, nearly half of patients with deep vein clots experience long-term health consequences that adversely affect their quality of life.

Prevention activities

CDC is helping to establish a network of thrombosis and hemostasis centers to conduct epidemiologic research on thrombosis and thrombophilia and promote the management, treatment, and prevention of complications experienced by people with clotting disorders.

CDC is conducting laboratory work to identify genetic risk factors that predispose persons to thrombophilia. Identifying these factors could help prevent complications that result from clotting.

CDC

Thalassemia

Thalassemia is a group of genetic blood disorders that affect approximately 1,000 individuals in the United States. The most severe of these disorders is Cooley’s Anemia.

People with thalassemia have a genetic defect of their red blood cells that affects the cells’ ability to produce normal hemoglobin. Red blood cells use hemoglobin to carry oxygen to tissues. As a result of the defect, most forms of thalassemia produce a chronic, lifelong anemia that begins in early childhood and often must be treated with frequent transfusions.
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