Rationale and Comments
Preconception and antenatal hemoglobin electrophoresis screening is recommended, especially in high prevalence areas for sickle cell disease or thalassemia, and has become routine practice in order to detect abnormalities of hemoglobins S, C, D-Punjab, E, O-Arab, Lepore, beta-thalassemia trait, delta/beta thalassemia trait, alpha thalassemia trait (2 chain deletion), and hereditary persistence of fetal hemoglobin. Partner testing should be offered when there is a risk of a significant hemoglobinopathy in the infant. Repeat hemoglobin electrophoresis testing is required only to make a more specific diagnosis or monitor the results of interventional therapies in patients with known hemoglobinopathies. Providers should investigate prior results before requesting a repeat hemoglobin electrophoresis.
- American Society for Clinical Pathology
- Michigan Department of Health & Human Services. Interpretation of newborn hemoglobin screening results. [Internet]. Lansing (MI): Michigan Department of Health & Human Services. 2015. [cited 2017 July 14]. Available from: http://www.michigan.gov/documents/mdch/Interpretation_of_Newborn_Hemoglobin_Screening_Results_Sep2013_438936_7.pdf.
- Centers for Disease Control and Prevention, Association of Public Health Laboratories. Hemoglobinopathies: Current practices for screening, confirmation and follow-up. [Internet]. Silver Spring (MD): Centers for Disease Control and Prevention, Association of Public Health Laboratories. 2015. [cited 2017 July 14]. Available from: https://www.cdc.gov/ncbddd/sicklecell/documents/nbs_hemoglobinopathy-testing_122015.pdf.
- Lane PA. Newborn screening for hemoglobin disorders. [Internet]. 2001. [cited 2017 July 14]. Available from http://sickle.bwh.harvard.edu/screening.html.
- Ryan K, Bain BJ, Worthington D ,James J, Plews D, Mason A, Roper D,Rees DC, De la Salle B, Streetly A. Significant haemoglobinopathies: guidelines for screening and diagnosis. British Journal of Haematology, [Internet]. 2010 Jan. [cited 2017 July 14]; 149, 35–49.