Hemoglobinopathies describe multiple disorders that affect the structure and function of hemoglobin. They are single gene disorders that have variable expressivity ranging from mild to severe. Identification of carriers allows patients to make informed reproductive planning decisions.
Test all patients for CBC and RBC indices as part of antepartum care
Hemoglobinopathies, such as sickle cell disease, can affect the structure of hemoglobin, while mutations causing thalassemias result in reduced production of hemoglobin chains. These conditions are autosomal recessive so carriers will not necessarily be identified without screening. If a patient’s partner is also a hemoglobinopathy carrier, there is a significant risk of the offspring being affected and referral is advised. Hemoglobinopathy screening should be offered to high risk groups, which include those of African, Middle Eastern, Southeast Asian, West Indian and Mediterranean ancestry. Low risk individuals are those from Northern European, Japanese, Native American, Inuit and Korean background.
ACOG Committee Opinion 691: Carrier Screening for Genetic Conditions
ACOG Committee Opinion 690: Carrier Screening in the Age of Genomic Medicine
Please log in to ObGFirst to access the 2T US Atlas