Aplastic anemia is a bone marrow failure syndrome. The bone marrow “shuts off” and stops producing white blood cells (WBCs), red blood cells (RBCs) and platelets. As a result, children with aplastic anemia are at risk for life-threatening infections, anemia and bleeding.
Hereditary spherocytosis is a condition characterized by hemolytic anemia (when red blood cells are destroyed earlier than normal). Signs and symptoms can range from mild to severe and may include pale skin, fatigue, anemia, jaundice, gallstones and/or enlargement of the spleen.
Resources: Genetic and Rare Diseases Information Center
- Hemophagocytic Lymphohistiocytosis (HLH) - is a very rare disorder of the body’s defense system during which the body’s normal infection-fighting process becomes out of control. Instead of fighting invading cells from infection, the disorderly immune system begins to attack the body’s normal cells. When the body’s infection-fighting process does not work correctly, the patient usually becomes very sick.
Resources: Hemophagocytic Handbook (PDF)
- Langerhans cell histiocytosis (LCH) - is a rare disease that occurs when normal Langerhans cells lose their ability to fight infection and instead group together to destroy healthy tissue.
Immune Thrombocytopenic Purpura ITP
Immune thrombocytopenic purpura (ITP) occurs when the body’s immune system does not work correctly and results in thrombocytopenia, a decrease in the number of platelets. Platelets are cells in the blood that help form clots to prevent or stop bleeding. When the platelet count is low, there is an increased risk of bruising and bleeding. One may also develop tiny blood spots under the skin or inside the mouth (petechiae).
Resources: Immune Thrombocytopenic Handbook (PDF)
Iron Deficiency Anemia
Anemia is a condition in which the body does not have enough healthy red blood cells. Red blood cells provide oxygen to body tissues. There are many types of anemia. Iron deficiency anemia occurs when the body does not have enough iron. Iron helps make red blood cells. Iron deficiency anemia is the most common form of anemia.
Neurofibromatosis (NF) is a genetic disease that causes tumors to develop in the nervous system. There are three types of neurofibromatosis. There is no cure for NF. Treatment is aimed at controlling symptoms and may include surgery to remove tumors, radiation therapy or medicines.
Neutropenia occurs when there are too few neutrophils, a type of white blood cells. While all white blood cells help the body fight infections, neutrophils are important for fighting certain infections, especially those caused by bacteria.
Opsoclonus myoclonus is a rare neurological disorder characterized by an unsteady, trembling gait, myoclonus (brief, shock-like muscle spasms), and opsoclonus (irregular, rapid eye movements). Other symptoms may include difficulty speaking, poorly articulated speech, or an inability to speak. A decrease in muscle tone, lethargy, irritability, and malaise (a vague feeling of bodily discomfort) may also be present. Opsoclonus myoclonus may occur in association with tumors or viral infections. It is often seen in children with tumors.
Thalassemia is the name of a group of genetic blood disorders. Hemoglobin is the oxygen-carrying component of the red blood cells. It consists of two different proteins, an alpha and a beta. If the body doesn’t produce enough of either of these two proteins, the red blood cells do not form properly and cannot carry sufficient oxygen. The result is anemia that begins in early childhood and lasts throughout life. Affected individuals also have a shortage of red blood cells (anemia), which can cause pale skin, weakness, fatigue and more serious complications.
- Alpha thalassemia – People whose hemoglobin does not produce enough alpha protein have alpha thalassemia. It is commonly found in Africa, the Middle East, India, Southeast Asia, southern China and occasionally the Mediterranean region.
- Beta thalassemia – People whose hemoglobin does not produce enough beta protein have beta thalassemia. It is found in people of Mediterranean descent, such as Italians and Greeks, and is also found in the Arabian Peninsula, Iran, Africa, Southeast Asia and southern China.