Congenital Aplastic Anemia

Overview

Type of disease: Rare conditions

Congenital aplastic anemia is a disease that inhibits new blood cell production. The disease is present at birth (congenital) and ranges from mild to severe. The condition is caused by damage to the bone marrow, a red, soft, spongy tissue inside bones that creates blood cells. Infection, auto immune disorders, exposure to certain chemicals or medicines have been known to damage bone marrow, but often the exact cause of congenital aplastic anemia in an individual is often unknown. Symptoms of the condition include: rapid irregular heartbeat, skin rash, unexplained or easy bruising, pale skin, and fatigue. Diagnosing the condition usually starts with a blood test to measure the levels of different blood cells in the body. A low blood cell count is a common sign of the condition, and is usually followed up by a bone marrow biopsy. The biopsy is used to confirm a congenital aplastic anemia diagnosis and rule out other potential bone marrow diseases. Treating the condtion depends on its severity. Severe cases require immediate hospitalization and potentially a bone marrow transplant. Mild to moderate cases may require blood transfusions and/or certain medications to help sustain the immune system and blood health.

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