ArticleFrontiers in medicine2021
Clinical Utility of the Addition of Molecular Genetic Testing to Newborn Screening for Sickle Cell Anemia.
Article in Frontiers in medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.
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Who cites it
8 citing papers in PubMed, 1 synthesis or guideline pooled it, 12 citations in OpenAlex.
- Genetic patterns & public health implications of sickle cell anaemia across populations: A systematic review.The Indian journal of medical research · 2025Pooled it
- Molecular Testing in Sickle Cell Disease: From Newborn Screening to Transfusion Care.International journal of laboratory hematology · 2026Review
- Newborn Screening for Hemoglobinopathies and Thalassemias: Brief History, Recent Activities, and Global Status-2026.International journal of neonatal screening · 2026Review
- Advances and Gaps in Global Newborn Screening for Sickle Cell Disease.International journal of neonatal screening · 2026Article
- The modern use of hydroxyurea for children with sickle cell anemia.Haematologica · 2025Review
- Clinical Utility of the Addition of Molecular Genetic Testing to Newborn Screening for Hemoglobinopathies for Confirmation of Alpha-Thalassemia Trait.International journal of neonatal screening · 2025Article
- Determination of birth prevalence of sickle cell disease using point of care test HemotypeSC™ at Rundu Hospital, Namibia.BMC pediatrics · 2024Article
- Scalable noninvasive amplicon-based precision sequencing (SNAPseq) for genetic diagnosis and screening of β-thalassemia and sickle cell disease using a next-generation sequencing platform.Frontiers in molecular biosciences · 2023Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Sickle cell disease (SCD) is a group of related yet genetically complex hemoglobinopathies. Universal newborn screening (NBS) for SCD is performed in the United States and many other nations. Classical, protein-based laboratory methods are often adequate for the diagnosis of SCD but have specific limitations in the context of NBS. A particular challenge is the differentiation of sickle cell anemia (SCA) from the benign condition, compound heterozygosity for HbS and gene-deletion hereditary persistence of fetal hemoglobin (HbS/HPFH). We describe a sequential cohort of 44 newborns identified over 4.5 years who had molecular genetic testing incorporated into NBS for presumed SCA (an "FS" pattern). The final diagnosis was something other than SCA in six newborns (12%). Three (7%) had HbS/HPFH. All had a final, correct diagnosis at the time of their first scheduled clinic visit in our center (median 8 weeks of age). None received initial counseling for an incorrect diagnosis. In summary, genetic testing as a component of NBS for SCD is necessary to provide correct genetic counseling and education for all newborns' families at their first visit to a sickle cell center. Genetic testing also permits the use of early, pre-symptomatic hydroxyurea therapy by preventing infants with HbS/HPFH from receiving unnecessary therapy. We argue that genetic testing should be incorporated into contemporary NBS for SCD.
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