Our son was recently diagnosed with thalassemia trait. We found this while treating him for anemia (his ferritin levels were very low). His pediatrician stated we should not worry about this disorder, but make sure he is not treated for iron deficiency unless his ferritin levels are low. Is this disorder truly that simple? Is there something else we should be watching for as he grows? He is currently 2-1/2 years old.
An anemia is a condition in which the amount of normal hemoglobin in the blood is reduced, either because of a reduction in the number of red blood cells which carry hemoglobin, or a reduction in the amount of normal hemoglobin in each cell. Although all anemias should be investigated to determine their cause, many mild to moderate anemias cause no illness or symptoms, and are quite compatible with a normal existence. Thalessemia trait is one of those anemias.
In the group of anemias called the thalessemias, inadequate amounts of hemoglobin are produced. These anemias are all caused by gene mutations, and are therefore inherited. As is true of the other major type of inherited anemia, sickle cell anemia, the different thalessemias are more common in certain population groups.
Hemoglobin is composed of two parts, a heme portion which carries the iron molecule necessary for the hemoglobin to carry oxygen, and a globin part which forms the framework holding the heme. Normal globin is made up of two chains, designated alpha and beta. There are two alpha and two beta chains in each hemoglobin molecule. In the thalessemias, the inherited mutations result in less than the normal two chains of each type being produced. Two separate genes are required to produce each alpha chain.
Mutations affecting the alpha chains are commonly seen in African-Americans, about 30 percent carry a mutation in one of the alpha chain genes. This does not produce anemia, and the person will never become ill from it. If two people lacking one alpha gene have children, one in four of their children on average will inherit both mutations, and therefore produce only one alpha chain in each molecule. This is called alpha thalessemia trait, and it produces a mild anemia which has the characteristics of iron deficiency. However, people with this condition are usually not deficient in iron. If both alpha chains are missing because four mutated genes have been inherited, the child will be stillborn or die shortly after birth.
Mutations involving the beta chain are common in people of southern European extraction. There are several types of beta chains, so the inheritance is more complicated. There is beta thalessemia trait, which, like alpha thalessemia trait, produces moderate anemia with the characteristics of iron deficiency, and then there is the disease beta thalessemia, also called Cooley’s anemia, in which the anemia is very severe and the child must have frequent transfusions to survive. If there is a question about whether a person has alpha or beta thalessemia trait, a test called hemoglobin electophoresis will often differentiate between the two.
So the son of our writer has either alpha or beta thalessemia trait. This can never change into the disease, and any, more severe anemia that may develop would be the result of some other condition, not the thalessemia trait. There are usually no symptoms that result from the trait, and growth and development of affected children are normal. They do not need to be protected in any way, and no treatment, diet, herbs or minerals will change the trait. It does not affect their immune systems, and they are no more likely than anyone else to come down with infections.
There are only two problems that can affect people carrying one of the thalessemia traits. The first is that they may mistakenly be treated over and over again with iron, and run the danger of accumulating too much iron in their bodies, which in itself may cause severe problems. Your child’s pediatrician is quite correct, your son should be given iron only if his ferritin level, a measure of the amount of iron in the body, is low.
The other problem arises when someone with the trait thinks of having children. If a partner also carries the trait, then they risk having children with the much more severe forms of these anemias. This is similar to the problem of two people carrying the sickle cell trait, and in fact, children of someone who has sickle cell trait and someone with beta thalessemia trait can have severe anemia also. (The mutation causing sickle cell anemia is a mutation of the beta chain.) Counseling about this problem when someone carrying the trait reaches adolescence is important.