Thalassemia is found in all populations, but it is most common among the following:
- Italian
- Greek
- Transcaucasian (Georgian, Armenia, and Azerbaijan)
- Southeast Asian (Vietnamese, Laotian, Thai, Singaporean, Cambodian, Filipino, Indonesian, Burmese, and Malaysian)
- Chinese
- East Indian
- Middle Eastern
Thalassemia is common in parts of the world where malaria is prevalent because thalassemia trait (also known as thalassemia minor) has protective mechanisms against malaria.
It is important for individuals and their partners to be aware of their thalassemia trait status, especially if you are of Italian descent (or other ancestry where Thalassemia is common).There are two main types of thalassemia trait: beta-thalassemia trait (more common among Italians) and alpha thalassemia trait. Individuals who have beta-thalassemia trait have one normal beta globin gene and one that is altered such that it makes little or no beta globin. There is not much scientific evidence that a person who has beta-thalassemia trait has any symptoms, although women with the trait may be more likely to develop anemia during pregnancy.
Thalassemia trait causes red blood cells to be a slightly smaller size, a condition caused microcytosis. Since iron deficiency is the most common cause of microcytosis Doctors often mistakenly misdiagnose thalassemia trait as iron deficiency anemia and prescribe iron supplements. However, thalassemia trait and iron deficiency are different problems, therefore before prescribing iron supplements, doctors should rule out thalassemia trait and/or perform lab tests to evaluate iron levels. A person with thalassemia trait can also be iron deficient, but if he or she is not iron deficient, iron supplements may result in excess body iron, which can deposit in many areas of the body and over time cause organ damage.
Testing for Thalassemia trait is easy! It involves having a blood sample drawn which looks at the following:
- Hemoglobin electrophoresis with quantitative hemoglobin A2 and hemoglobin F
- Complete Blood Count (CBC)
- Iron studies (free erythrocyte proto porphyrin and ferritin)
Occasionally trait status cannot be determined by these screening tests alone. If iron deficiency is detected, then an individual must be retested after completing a course of iron supplement therapy. With iron supplements iron deficiency should improve. If it does not, it may be that the individual has thalassemia trait. Occasionally, DNA testing that directly examines the Alpha and/or Beta globin genes is necessary.
It is important for individuals and their partners to be aware of their thalassemia trait status, especially if you are of Italian descent (or other ancestry where Thalassemia is common). Again, since there are no symptoms, an individual may not know they have the trait until they have a child born with thalassemia major, a severe form of the disease. If both parents have the thalassemia trait there is a 25% chance that their child could be born with thalassemia major.
If you find out you have thalassemia trait and would like more information, please contact:
Laurice Levine, MA, CCLS
Medical Consultant/Thalassemia Outreach
Email: LLevine430@aol.com
Find Laurice on facebook at Laurice M. Levine