Aplastic anemia Aplastic anemia: (ay-PLASS-tik uh-NEE_mee-uh) A rare and serious condition in which the bone marrow fails to make enough blood cells - red blood cells, white blood cells, and platelets. The term aplastic is a Greek word meaning not to form. Anemia is a condition that happens when red blood cell count is low. Most… occurs when blood-forming stem cells stem cells: Cells in the body that develop into other cells. There are two main sources of stem cells. Embryonic stem cells come from human embryos and are used in medical research. Adult stem cells in the body repair and maintain the organ or tissue in which they are found. Blood-forming (hemapoietic) stem… in bone marrow can't produce enough red blood cells, white blood cells or platelets. The cells that are made are normal. Sometimes there's a genetic cause that was passed from parent to child, but most often it results from the accidental destruction of stem cells by the immune system.
Acquired Aplastic Anemia
Acquired aplastic anemia is usually considered an autoimmune disease autoimmune disease: Any condition that happens when the immune system attacks the body's own normal tissues by mistake. . Normally, your immune system attacks only foreign substances. When your immune system attacks your own body, you are said to have an autoimmune disease. Other autoimmune diseases include rheumatoid arthritis and lupus.
Acquired aplastic anemia can begin at any time in life. About 75 out of 100 cases of acquired aplastic anemia are idiopathic idiopathic: Usually refers to any condition with no known cause. . This means they have no known cause. In the remaining cases, the cause can often be linked to:
- Toxins, such as pesticides, arsenic and benzene benzene: A chemical that is widely used by the chemical industry in the United States to make plastics, resins, nylon and synthetic fibers. Benzene is found in tobacco smoke, vehicle emissions, and gasoline fumes. Exposure to benzene may increase the risk of developing a bone marrow failure disease. Benzene…
- Radiation and chemotherapy chemotherapy: (kee-moe-THER-uh-pee) The use of medicines that kill cells (cytotoxic agents). People with high-risk or intermediate-2 risk myelodysplastic syndrome (MDS) may be given chemotherapy to kill bone marrow cells that have an abnormal size, shape, or look. Chemotherapy hurts healthy cells along with… used to treat cancer
- Treatments for other autoimmune diseases, such as rheumatoid arthritis and lupus
- Pregnancy - sometimes, this type of aplastic anemia improves on its own after the woman gives birth
- Infectious diseases, such as hepatitis, Epstein-Barr virus, cytomegalovirus (si-to-MEG-ah-lo-VI-rus), parvovirus B19 and HIV.
- Sometimes, cancer from another part of the body can spread to the bone marrow and cause aplastic anemia.
Hereditary Aplastic Anemia
Hereditary aplastic anemia is passed down through the genes from parent to child. It is usually diagnosed in childhood and is much less common than acquired aplastic anemia. People who develop hereditary aplastic anemia usually have other genetic or developmental abnormalities that cause the aplastic anemia.
Some inherited conditions can damage stem cells and lead to aplastic anemia, including:
- Fanconi anemia
- Shwachman-Diamond syndrome Shwachman-Diamond syndrome: A rare inherited disease that affects many organs, especially the bone marrow, pancreas, and skeletal system. The bone marrow fails to make one or all of the blood cells - red cells, white cells, and platelets. Schwachman-Diamond syndrome is diagnosed with genetic testing.
- Dyskeratosis (DIS-ker-ah-TO-sis) congenita
- Diamond-Blackfan anemia Diamond-Blackfan anemia: A rare form of pure red cell aplasia that can be passed down from parent to child. Diamond-Blackfan anemia (DBA) is characterized by low red blood cell counts detected in the first year of life. Some people with DBA have physical abnormalities such as small head size, low frontal hairline, wide-set… .
A newly discovered type of hereditary aplastic anemia is due to excessive shortening of the ends of chromosomes chromosomes: The part of the cell that contains our DNA or genetic code. , called telomeres. This is usually diagnosed in adults. Family members of the patient may have a history of aplastic anemia or scarring (fibrosis) of the lungs or liver. This type of aplastic anemia can only be diagnosed with special tests.
Inherited Bone Marrow Failure Syndrome Resources
If you are interested in learning more about inherited bone marrow failure syndromes, the resources below may be of help:
- Telomere Biology Disorders
- The Diamond Blackfan Anemia Foundation, Inc. (DBAF)
- Shwachman Diamond Syndrome Foundation
- Fanconi Anemia Research Fund, Inc.
You may also want to visit the National Cancer Institute's (NCI) inherited bone marrow failure syndromes web page. The NCI is also conducting an inherited bone marrow failure syndrome study.