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Understand Childhood Cancers and Blood Disorders

Neutropenia

Neutropenia is defined as a decrease in the number of neutrophils in the blood. Neutrophils are a kind of white blood cell that are important in fighting bacteria. Therefore, when there is neutropenia (<1500 cells/mm3), there is an increased risk of infections such as skin infections, pneumonia, infections of the gum, ear infections, and blood infections. Age and race can affect the neutrophil count, with newborns and African Americans having slightly lower values than the normal range.

A decreased number of neutrophils can result from decreased production or from increased utilization of white blood cells. Common causes of neutropenia in childhood include viral infection (such as hepatitis A, hepatitis B, measles, and varicella) and drugs (such as chemotherapy, antibiotics, and anti-seizure medicines). Other less common causes are autoimmune disorders, nutritional deficiencies (such as deficiencies of vitamin B12 or folic acid), and an enlarged spleen. Since neutrophils are produced in the bone marrow, conditions where the bone marrow is replaced by other cells such as leukemia or metastatic cells from other cancers (such as neuroblastoma or medulloblastoma) will cause neutropenia as well. Some cases of neutropenia are present from birth and are the result of disorder of the cells that produce neutrophils specifically (e.g. cyclic neutropenia, Kostman disease, and reticular dysgenesis). These types of neutropenia are very rare, cause very low neutrophil counts, and are associated with very severe infections.

The history of current and past infections is extremely important when determining the causes of neutropenia. Blood tests may be needed once, or may be repeated several times to determine a pattern of the neutrophil count over time. Sometimes bone marrow tests are needed to confirm the diagnosis, especially if the neutropenia is associated with a decreased number of red blood cells and/or platelets.

Treatment of neutropenia depends partly on its cause and partly on its severity. Removing a drug or supplementing a missing vitamin are easy solutions. If there is fever or a severe infection, IV antibiotics may be needed. If the individual with neutropenia has frequent infections, that individual may need to take oral antibiotics every day to help prevent infections. Good hygiene (including hand washing and dental care) and avoidance of sick individuals or unclean food (such as sushi or unwashed fruit and vegetables that are not peeled before eaten) can also help to prevent infection. Some individuals with impaired production of neutrophils from a bone marrow disorder may require G-CSF or Neupogen to help increase neutrophil production. Individuals with chronic benign neutropenia and autoimmune neutropenia often need no treatment, but close observation is recommended.

Thalassemia

In order to understand what Thalassemia is, it is important to understand the structure of hemoglobin. Hemoglobin is a protein that exists in red blood cells and carries oxygen to all the tissues of the body. The most important and common hemoglobin is called hemoglobin A, or adult hemoglobin. Regardless of blood type, hemoglobin A is made up of two pairs of identical proteins, one is called alpha (α), the other is called beta (β). [So two α proteins + two β proteins = one molecule of hemoglobin A]. During the life of a fetus and for several months after birth, a baby has a substantial amount of a different hemoglobin, fetal hemoglobin (hemoglobin F) which is also made up of two pairs of proteins - two alpha (α), and two gamma (). After the first year of life, hemoglobin F disappears and therefore, most people carry only two types of hemoglobin - hemoglobin A (two alpha α, and two beta β), and small amounts of hemoglobin A2 (two alpha α, and two delta ). Hemoglobin A2 makes up less than three-and-a-half percent of the total hemoglobin, so hemoglobin A accounts for the rest.

Genes responsible for making these proteins make sure that the body has the same number of alpha and beta proteins. If either of those genes is mutated (changed or altered in some way), or missing entirely, the result is an imbalance of the protein chains. One may end up with too many α proteins, or too many β proteins, and that imbalance is called thalassemia. Most often, only one of the proteins (either alpha or beta) is changed or missing. When the alpha protein is missing or defective, there is too much beta protein causing alpha Thalassemia. When the beta protein is missing or defective, there is too much alpha protein leading to beta Thalassemia. The imbalance leads to low hemoglobin levels called anemia.

Both alpha and beta thalassemia are inherited. But there is a difference between the two thalassemias in the way they are inherited as well as the severity of the anemia.
  1. In beta β-Thalassemia, the gene that makes the beta protein (also called beta globin gene) is abnormal. We inherit one beta globin gene from each parent. If we inherit only one "bad" or abnormal beta globin gene, we have beta Thalassemia minor (also called β-Thalassemia trait). This condition can cause a very mild anemia that is often confused with iron deficiency--it does not require any treatment and patients can live a completely normal life. If you or your child have beta Thalassemia minor (trait), it is important to get genetic counseling before each pregnancy to assess the risk of having a more seriously affected child. Genetic counseling will also be a must for your child when he or she is ready to have children.

    Red Cell transfusions are the mainstay of therapy for patients with Thalassemia Major. This corrects the anemia and stops the body's production of these abnormal red cells in areas outside of the bone marrow. The frequent blood transfusions lead to iron overload in the body (because each unit of red blood cells contains iron, a part of the hemoglobin). When we have too much iron in our body, it settles in the bone marrow, and then, once the marrow is filled, iron flows and settles in other organs and tissues. Iron can damage the liver, heart, pancreas, and the glands that produce hormones. Patients develop liver problems, heart failure, diabetes, and abnormal growth, slowed development, as well as delayed puberty. Therefore patients with β-Thalassemia Major are also given a special medication to help the body get rid of that extra iron (Desferal or Exjade).

    When a child inherits a "bad" beta globin gene from both parents, the child ends up having beta Thalassemia major. These patients are usually diagnosed early in life, presenting with severe anemia, enlarged liver and spleen, and often abnormal bone structure of the face. This severe form of thalassemia necessitates lifetime transfusions of red blood cells in order to grow, develop and survive. Sometimes, a child can inherit two "bad" beta globin genes, neither of which is completely useless, but neither is completely normal. This situation is known as β-Thalassemia Intermedia. This β-Thalassemia Intermedia is very variable and no two patients have the same problems.

    Transfusions must be given at constant intervals of time because they stop the patient's own bone marrow from making red blood cells. The red blood cells manufactured by the body's own marrow, are defective, they are destroyed rapidly, and add to the iron overload problem. If one does not receive periodic blood transfusion, his or her bone marrow 'senses' there is a severe anemia and begins working very vigorously to make more and more red cells. The bone marrow factory expands space for blood manufacturing at the expense of real bone. That leads to the bones that are easily breakable (especially with advancing age), and leads to abnormal bone structure (such as the bones of the face leading to bulging facial bones).

    β-Thalassemia is found in people of Mediterranean descent, such as Italians, and Cypriots, and is also found in the Arabian Peninsula, Iran, Africa, Southeast Asia and southern China.

    Patients with β-Thalassemia Major must be followed up closely for a variety of medical complications and receive their blood transfusions in time. Doctors will also arrange tests to find out how much extra iron is present in the child's body. Most often that is done with a blood test but on occasion other tests are needed, including a liver biopsy. β-Thalassemia can be diagnosed during the early stages of pregnancy.

    While β-Thalassemia Major is usually diagnosed in infancy, the Intermedia and Minor Thalassemias may take a longer time to discover. The diagnosis can be accomplished with a simple blood test.
  2. In alpha α-Thalassemia, the gene that makes the alpha protein (also called alpha globin gene) is usually missing (but on occasion may be just mutated, or altered instead of missing entirely). By contrast to beta Thalassemia, we inherit two pairs of alpha globin genes from each parent, and not just one. Thus, normally we end up with four copies of the alpha globin gene. Those alpha globin genes are carried on two different chromosomes (A chromosome is a long string of DNA; genes are working units along that string of DNA and they vary in size and function). Each chromosome carries two alpha globin genes. There are four different possible inheritance patterns-
    1. Child inherits zero alpha globin genes resulting in an absence of alpha proteins. This is a very unfortunate condition known as "Hydrops Fetalis". Such fetuses die before or shortly after birth.
    2. Child inherits only one alpha globin gene, leading to only one alpha protein. This condition is called Hemoglobin H Disease. There are too many beta proteins with too few normal alpha proteins to pair with. The extra beta chains pair with each other making very abnormal hemoglobin (hemoglobin H). Hemoglobin H does not carry oxygen normally. Hemoglobin H sticks to the outer covering of red blood cells and causes their early destruction. The result is a severe anemia with frequent need for red blood cell transfusions. Such frequent red blood cell transfusions lead to iron overload in the body and require treatment, as with β-Thalassemia Major.
    3. Child inherits only two alpha globin genes leading to only two alpha proteins. This condition is called alpha α-Thalassemia trait. These patients have red blood cells that are smaller than normal and a very mild anemia. However, other than that, such children are normal in their growth and development, and can participate in the most competitive of sports.
    4. Child inherits only three alpha globin genes leading to only three alpha proteins. This condition is called alpha α-Thalassemia trait. Patients have normal red blood cells and no anemia. That is why we call this a "silent carrier" α-Thalassemia.
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