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Aplastic anemia  

Aplastic anemia is a bone marrow failure syndrome characterized by peripheral pancytopenia and marrow hypoplasia. Paul Ehrlich, MD, introduced the concept of aplastic anemia in 1888 when he studied the case of a pregnant woman who died of bone marrow failure.

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Within the cavity of many of your bones, such as your pelvic bones, is a red, spongy material called bone marrow.

Bone marrow has a critical function. It contains special cells called stem cells, which are precursors of other cells. Stem cells in the bone marrow produce blood cells — red cells, white cells and platelets — that eventually leave the bone marrow and enter your bloodstream. Stem cells also make more stem cells.

Your bone marrow needs to continually produce new blood cells of all types to replace old ones. Blood cells live for only a short period once they leave the bone marrow and enter your blood. Red blood cells live about four months, platelets less than a week and most white blood cells a day or less before they're used and absorbed by your body.

Normally, your bone marrow supplies the right numbers of blood cells to keep you healthy. Aplastic anemia develops when damage occurs to your bone marrow, slowing or shutting down the production of new blood cells — a serious problem. Factors that can temporarily or permanently injure bone marrow include:

  • High-dose radiation and chemotherapy treatments. These cancer-fighting therapies kill cancer cells. But they also damage healthy cells, including stem cells in bone marrow. Secondary aplastic anemia can be a temporary side effect of these treatments.

  • Exposure to toxic chemicals. Secondary aplastic anemia has been linked to exposure to toxic chemicals, such as some used in hair dyes, herbicides and insecticides. Exposure to benzene — an ingredient in gasoline, mothballs, paint and varnish removers, dry-cleaning solutions, and some glues and household cleaners — also has been linked to secondary aplastic anemia. This type of anemia sometimes gets better on its own if you avoid repeated exposure to the chemicals that caused the initial illness.

  • Use of certain drugs. Some medications to treat rheumatoid arthritis, some antibiotics, as well as some illegal drugs can cause secondary aplastic anemia.

  • Autoimmune disorders. An autoimmune disorder such as lupus, in which the body's immune system begins attacking healthy cells, may involve stem cells in the bone marrow.

  • A viral infection. In some people, aplastic anemia may be related to a viral infection that affects the bone marrow.

  • Pregnancy. Aplastic anemia may occur in pregnancy, but this is rare. It may be related to an autoimmune problem — the body's immune system begins attacking the bone marrow during pregnancy.

  • Bone marrow diseases. Diseases that affect bone marrow can eventually lead to an added diagnosis of aplastic anemia.

  • Unknown factors. In many cases, the cause of aplastic anemia can't be identified. This is called idiopathic aplastic anemia.

In aplastic anemia, the bone marrow is described in medical terms as aplastic or hypoplastic — meaning that it's empty, or containing very few blood cells.

Aplastic anemia is sometimes confused with myelodysplastic syndrome. In this group of disorders, the bone marrow produces new blood cells, but they're deformed and underdeveloped. The bone marrow in myelodysplastic syndrome is sometimes called hyperplastic — meaning that it's packed with blood cells. But some people with myelodysplastic syndrome have empty marrow that's difficult to distinguish from aplastic anemia.

Because myelodysplastic syndrome also results in a shortage of healthy blood cells, it causes signs and symptoms similar to those of aplastic anemia — fatigue, unexplained bruising and easy bleeding. Myelodysplastic syndrome has many causes, including possibly exposure to radiation or toxic chemicals.

Doctors distinguish myelodysplastic syndrome from aplastic anemia through careful diagnosis, a bone marrow biopsy and genetic analysis of the bone marrow. Myelodysplastic syndrome — which is more common in people older than 60 — is also serious and treated with some of the same therapies as those used to treat aplastic anemia.

Additionally, about 30 percent of people with aplastic anemia also have a rare disorder known as paroxysmal nocturnal hemoglobinuria. Marrow cells become overly sensitive to the immune system in this disorder, destroying red blood cells and causing defective platelets to form.

Fanconi's anemia is an extremely rare, inherited disease that leads to aplastic anemia. Children born with it tend to be smaller than average and have birth defects, such as underdeveloped limbs. The disease is diagnosed with the help of blood tests. It's treated with medications and occasionally a bone marrow transplant.

Risk factors

Aplastic anemia is rare. Factors that can increase your risk include:

  • Treatment with high-dose radiation or chemotherapy for cancer

  • Exposure to toxic chemicals

  • Use of prescription drugs — such as chloramphenicol (Chloromycetin) used to treat bacterial infections and gold compounds used to treat rheumatoid arthritis — that are known to induce aplastic anemia

  • Use of illegal drugs

  • Certain blood diseases, autoimmune disorders and serious infections

  • Pregnancy, very rarely

Aplastic anemia can develop at any age, but it's more commonly diagnosed in children and young adults.

Screening and diagnosis

Doctors diagnose aplastic anemia through blood tests and a bone marrow biopsy.

Normally, red blood cell, white blood cell and platelet levels stay within a certain range. Your doctor may suspect aplastic anemia when all three of these blood cell levels are very low.

Many conditions can cause low blood cell counts, but usually of just one type of blood cell. For example, other types of anemia cause a decrease in red blood cells. If you have an infection, your white blood cell count alone may be low.

To confirm a diagnosis of aplastic anemia, you'll need a bone marrow biopsy. In this procedure, a doctor uses a needle to remove a small sample of bone marrow from a large bone in your body, such as your hipbone. The bone marrow sample is examined under a microscope to rule out other blood-related diseases. In aplastic anemia, bone marrow contains fewer blood cells than normal. The very few cells that are present, however, are normal. In diseases such as leukemia and myelodysplastic syndrome, the bone marrow is full of abnormal blood cells.

The initial diagnosis of aplastic anemia may be made by your doctor or at a local hospital. But for further evaluation and treatment, you'll likely be referred to a doctor who specializes in blood diseases (hematologist) or to a special treatment center for aplastic anemia.

Once you've received a diagnosis of aplastic anemia, you may need additional tests to determine an underlying cause.



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