Aplastic anemia is a rare disease in which the bone marrow fails to produce enough new blood cells. There is not only a deficit of red blood cells but also a deficit of white blood cells and platelets. White blood cells fight germs and platelets help blood clot. Without these, the body is at risk for infection and uncontrolled bleeding.
Fewer than 1,000 people in the United States are diagnosed each year. The cause is unknown and sporadic in more than half of the cases and doctors call this idiopathic aplastic anemia. However, central to the disease is that the body’s own immune system destroys the marrow. Other cases of aplastic anemia are acquired and there is a connection with exposure to viral illnesses, radiation, toxic chemicals such as benzene, and even certain medications. In children, your doctor will especially want to rule out underlying cancer or inherited bone marrow failure syndromes that canmimic aplastic anemia because this has very important treatment implications.
In aplastic anemia, the quantity of each blood cell type is much lower than normal. Fewer white blood cells will bring on unexplained infections. Fewer platelets bring about unexpected bleeding. And fewer read blood cells cause fatigue. Other symptoms include:
- Easy, unexplained bruising
- Nosebleeds and bleeding gums
- Pale skin
- Prolonged bleeding from cuts
- Rapid heart rate
- Shortness of breath with exertion
- Skin rash
Aplastic anemia is diagnosed with blood tests to count the types of blood cells circulating in the blood. When two or three of the cell counts is extremely low, that is a strong indication of aplastic anemia. The diagnosis is confirmed by a bone marrow biopsy. In this procedure, a doctor uses a needle to remove a small sample of marrow from a large bone, such as the hipbone. The marrow sample is examined under a microscope to rule out other blood-related diseases. If very few cells are present in the bone marrow, an aplastic anemia diagnosis is made.
Children with aplastic anemia are treated by a hematologist, one who specializes in blood disorders. After confirming that aplastic anemia is present the hematologist will conduct tests to rule out underlying inherited or acquired bone marrow failure syndromes. Examples include:
- Fanconi Anemia
- PNH (Paroxysmal Nocturnal Hemoglobinuria)
- Dyskeratosis Congenita
- Congenital Neutropenia (Kostmann Syndrome)
- Pure Red Cell Aplasia (Blackfan-Diamond Syndrome)
- Amegakaryocytic thrombocytopenia
- Schwachman-Diamond Syndrome
If these tests are negative a final diagnosis idiopathic aplastic anemia can be made.