Most children with moderate to severe thalassemia show signs and symptoms within their first two years of life. If your doctor suspects your child has thalassemia, he or she may confirm a diagnosis using blood tests.
If your child has thalassemia, blood tests may reveal:
- A low level of red blood cells
- Smaller than expected red blood cells
- Pale red blood cells
- Red blood cells that are varied in size and shape
- Red blood cells with uneven hemoglobin distribution, which gives the cells a bull's-eye appearance under the microscope
Blood tests may also be used to:
- Measure the amount of iron in your child's blood
- Evaluate his or her hemoglobin
- Perform DNA analysis to diagnose thalassemia or to determine if a person is carrying mutated hemoglobin genes
Testing can be done before a baby is born to find out if he or she has thalassemia and determine how severe it may be. Tests used to diagnose thalassemia in fetuses include:
- Chorionic villus sampling. This test is usually done around the 11th week of pregnancy and involves removing a tiny piece of the placenta for evaluation.
- Amniocentesis. This test is usually done around the 16th week of pregnancy and involves taking a sample of the fluid that surrounds the fetus.
Assisted reproductive technology
A form of assisted reproductive technology that combines preimplantation genetic diagnosis with in vitro fertilization may help parents who have thalassemia or who are carriers of a defective hemoglobin gene give birth to healthy babies. The procedure involves retrieving mature eggs and fertilizing them with sperm in a dish in a laboratory. The embryos are tested for the defective genes, and only those without genetic defects are implanted into the uterus.
Nov. 02, 2016
- Longo DL, et al., eds. Disorders of hemoglobin. In: Harrison's Principles of Internal Medicine. 19th ed. New York, N.Y.: McGraw-Hill Education; 2015. http://accessmedicine.com. Accessed Sept. 15, 2016.
- What are thalassemias? National Heart, Lung, and Blood Institute. http://www.nhlbi.nih.gov/health/health-topics/topics/thalassemia/. Accessed Sept. 15, 2016.
- Kelly N. Thalassemia. Pediatrics in Review. 2012;33:434.
- Thalassemias. Merck Manual Professional Version. http://www.merckmanuals.com/professional/hematology_and_oncology/anemias_caused_by_hemolysis/thalassemias.html. Accessed Sept. 15, 2016.
- Yates AM. Prenatal screening and testing for the hemoglobinopathy. http://www.uptodate.com/home. Accessed Sept. 15, 2016.
- Benz EJ. Treatment of beta thalassemia. http://www.uptodate.com/home. Accessed Sept. 20, 2016.
- Musallam KM, et al. Iron overload in b-thalassemia intermedia: An emerging concern. Current Opinion in Hematology. 2013;20:187.
- DeLoughery TG. Microcytic anemia. New England Journal of Medicine. 2014;371:1324.
- AskMayoExpert. Thalassemia syndrome. Rochester, Minn.: Mayo Foundation for Medical Education and Research; 2016.
- Benz EJ. Clinical manifestations and diagnosis of the thalassemia. http://www.uptodate.com/home. Accessed Sept. 15, 2016.
- Schrier SL, et al. Chelation therapy for thalassemia and other iron overload states. http://www.uptodate.com/home. Accessed Sept. 20, 2016.
- What is a blood and marrow stem cell transplant? National Heart, Lung, and Blood Institute. http://www.nhlbi.nih.gov/health/health-topics/topics/bmsct/. Accessed Sept. 20, 2016.
- Adams RH (expert opinion). Mayo Clinic, Scottsdale/Phoenix, Ariz. Sept. 26, 2016.