Screening
Carrier and prenatal screening
The American College of Obstetricians and Gynecologists recommends universal hemoglobinopathy testing for those planning pregnancy.[19][21] Hemoglobin electrophoresis or molecular genetic testing should be performed when planning pregnancy, or at the initial prenatal visit if there are no previous test results available.[19] If a woman is found to be a carrier, her reproductive partner should be offered screening.[21] Information and counseling should be offered alongside screening.[20][21]
Thorough genetic counseling should be offered to all individuals who test positive during screening.
Newborn screening
Early identification of newborns with beta-thalassemia can help optimize management.
Beta-thalassemia is not included in the US Recommended Uniform Screening Panel for state newborn screening programs. However, current screening methodologies used to detect sickle cell disease (reported by all states) are capable of detecting a significantly diminished ratio of Hb A to fetal Hb (Hb F), which is suggestive of beta-thalassemia.[26]
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