I just got back from doctor's office with my daughter, and I'm a little overwhelmed. She is 18 months old and had her routine blood test. The doctor said that she has a Thalassemia trait (my husband has Thalassemia minor, if I’m not mistaken). I know that it’s not a disease, but I’m still a little worried. Would you tell me a little more about it? Also, my daughter’s hemoglobin level is 10.5. The doctor said that it’s low. But how low? What can I do about it? Is there anything that can increase the hemoglobin level?
Dear “Thalassemia Trait”,
Thalassemia is a blood disorder more commonly found in people of Mediterranean decent and in people from Africa, India and Southeast Asia. It is a disorder of the hemoglobin in a person’s red blood cells. Blood contains red blood cells and white blood cells. The purpose of the red blood cells is to transport oxygen to the tissues in the body where it is needed. (1) The hemoglobin in the red blood cells is the part that combines with and transports the oxygen.
Hemoglobin cells have 4 globin chains. Thalassemia refers to the underproduction of a globin chain. Beta Thalassemia refers to an underproduction of beta globin chains and Alpha Thalassemia refers to an underproduction alpha globin chains. Depending on the exact Thalassemia syndrome inherited, the consequences are different.
There are two beta-globin genes in every person which are located on chromosome 11. (2) These genes determine whether a person will have Thalassemia or not. People who do not have Thalassemia inherit two functional beta-globin genes. People with beta-Thalassemia Trait have a dysfunction of one of the two beta-globin genes. Thalassemia Major (Homozygous Beta-Thalassemia) occurs when both of the beta-globin genes are dysfunctional.
Beta-Thalassemia Trait is a condition that is typically asymptomatic, which means it does not cause symptoms. (3) Children with beta-Thalassemia trait may experience mild anemia, but this mild anemia does not affect their growth or development. They typically have lower hemoglobin levels as compared to their counterparts. Their hemoglobin level is usually between 9 to 11.(2) The diagnosis is made through blood testing which involves the quantitative analysis of the hemoglobin present in the child’s blood.
A child inherits beta-Thalassemia Trait from one of their parents. In your daughter’s case it seems that she inherited her Thalassemia Trait from her father since you said that he has Thalassemia Minor. Thalassemia is inherited in an autosomal recessive pattern. This means if your daughter marries someone who also carries the Thalassemia gene, her children will have a 1 in 4 chance of developing beta-Thalassemia major which can be quite serious. (3) So basically, the Thalassemia trait that your daughter has will probably have little significance in her personal health, but can become a great concern in her offspring. Because of this genetic counseling should be made available to your daughter when she is an adult. (2,3)
I have had plenty of patients with beta-Thalassemia Trait and it had no clinical significance in their day to day life. It can become a concern during periods of increased blood loss, such as during surgery or injuries that cause major blood loss. If your daughter has surgery or gets in a car accident, she will need to inform all of the doctors caring for her about her Thalassemia Trait. For example, if your daughter had a tonsillectomy, she would need to be monitored closely for bleeding and may need special medication because this type of surgery generally involves a lot of blood loss.
Thalassemia Major, also known as Cooley’s anemia on the other hand is a severe life-threatening anemia. The symptoms tend to become clinically apparent after a child is 6 months old. Affected children develop symptoms of anemia including pale skin color, fussiness, listlessness, poor appetite and frequent infections. (3) If a child remains untreated, the symptoms become more apparent as they become older as their body attempts to compensate for the decreased amount of hemoglobin. In order to overcome the anemia the body makes more red blood cells which causes an enlargement of the liver, spleen and bones. This enlargement of the bones presents as prominent forehead and cheeks. The teeth are typically poorly aligned and misshapen. Growth retardation and delay in puberty are also expected findings. Without blood transfusions, children with Beta-Thalassemia would die. The repeated blood transfusions that are needed for children with Beta-Thalassemia Major puts them for at risk for other health complications which unfortunately can lead to a shortened life span.
In regards to your question about your daughter’s hemoglobin level, it is slightly decreased. This slight decrease is most likely due to her Thalassemia trait. If this is the case, there is nothing that you need to do. This will likely be a “normal” hemoglobin level for her and her body is used to this level. In some cases a child may suffer from Iron Deficiency anemia as well as Thalassemia trait. When this occurs an adjustment in dietary intake of iron fortified foods or iron supplementation may be necessary. Your doctor can tell you if your daughter has Iron Deficiency anemia from her blood work results.
Iron therapy will not improve hemoglobin levels in patients with Thalassemia trait. (2) Excess iron can be harmful and should only be administered through the recommendation of your doctor.
For More Information about Thalassemia contact:
Cooley's Anemia Foundation
(1)Tortora G, Anagnostakos N. Principles of Anatomy and Physiology. 4th ed. Sao Paulo, Sidney:Biological Sciences Textbooks, Inc. 1984: 437.
(2)Schwartz M, Charney E, Curry T, Ludwig S. Pediatric Primary Care. A Problem Oriented Approach. 2nd Ed. Littleton, Mass:Year Book Medical Publishers, Inc. 1990:442-444.
(3)Betz C, Hunsberger M, Wright S. Family-Centered Nursing Care of Children. 2nd ed. Philadelphia, PA:W.B.Saunders Company. 1994:1394.
Lisa-ann Kelly R.N., P.N.P.,C.
Certified Pediatric Nurse Practitioner
Pediatric Advice About Childhood Diseases