Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
6.0
4.0
Journals
IJNS
Special Issues
Newborn Screening for Sickle Cell Disease Between Point of Care...
share announcement

Newborn Screening for Sickle Cell Disease Between Point of Care Testing and Next Generation Sequencing – An Impossible Choice or Not?

A special issue of International Journal of Neonatal Screening (ISSN 2409-515X).

Deadline for manuscript submissions: 31 October 2026 | Viewed by 4387

Special Issue Editors

Dr. Stephan Lobitz

E-Mail Website
Guest Editor
Department of Pediatric Hematology and Oncology, Gemeinschaftsklinikum Mittelrhein gGmbH, 56073 Koblenz, Germany
Interests: sickle cell disease; thalassemia; hemoglobinopathies; newborn screening; digital health interventions
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. Béatrice Gulbis

E-Mail Website
Guest Editor
Human Genetic Centre, H.U.B., Université Libre de Bruxelles, Brussels, Belgium
Interests: sickle cell; thalassemia; haemoglobinopathies
Dr. Yvonne Daniel

E-Mail Website
Guest Editor
NHS Sickle Cell & Thalassemia Screening Programme, London, UK
Interests: haemoglobinopathy screening; haemoglobinopathy diagnosis; sickle cell disease; thalassaemia
Dr. Raffaella Colombatti

E-Mail Website
Guest Editor
Pediatric Hematology Oncology Unit, University of Padova, Padova, Italy
Interests: sickle cell disease; haemoglobinopathies

Special Issue Information

Dear Colleagues,

Newborn screening (NBS) for sickle cell disease (SCD) has dramatically improved survival and quality of life where implemented, yet it remains unevenly available worldwide. As technologies evolve—from rapid point‑of‑care testing (POCT) to comprehensive next‑generation sequencing (NGS)— it allows new strategies to link screening to health care systems. Clinicians, policymakers, and laboratories face crucial choices, i.e., how can national programs balance accuracy, feasibility, and equity? Is the right approach context‑dependent, or is a global consensus emerging? How can affected newborns in different healthcare systems be enrolled in a meaningful disease management program?

This Special Issue of the International Journal of Newborn Screening invites researchers, clinicians, and public health experts to explore the crossroads of innovation and implementation in SCD screening. We seek reviews and original research that examine how different approaches, infrastructures, and data systems can jointly ensure timely detection, effective follow‑up, and sustainable impact.

Topics of interest include, but are not limited to, the following:

  • Epidemiological data and key policy decisions shaping national implementation of NBS for SCD.
  • Comparisons between low‑ and high‑income countries, including coverage, feasibility, and outcome disparities.
  • Economic benefit and quality of life: what is known, and where are the remaining evidence gaps?
  • Methods of screening, from traditional techniques to innovative molecular assays.
  • Definition and role of point‑of‑care testing (POCT) in national and regional strategies.
  • Place of next‑generation sequencing (NGS) within comprehensive NBS and confirmatory workflows.
  • Transmission of results, data management, and timely parental communication.
  • Strategies of follow‑up, integrating findings with NBS registries and long‑term care systems.
  • Consideration of Hb AS and other hemoglobinopathies, including heterozygous states and clinical relevance.
  • Registries and data infrastructure: objectives, design, and utilization of NBS registries.
  • Linking NBS registries with national, EU, and international databases: challenges, opportunities, and goals for harmonization.

Through this collection, we aim to highlight both technological frontiers and system‑level insights that will guide the next generation of screening programs. Contributions that bridge laboratory innovation, clinical pathways, and policy frameworks are especially encouraged.

Join us in shaping the global dialog on how advances in NBS can bring equitable, high‑quality care for every newborn at risk of sickle cell disease.

Dr. Stephan Lobitz
Prof. Dr. Béatrice Gulbis
Dr. Yvonne Daniel
Dr. Raffaella Colombatti
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Neonatal Screening is an international peer-reviewed open access quarterly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 1600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • sickle cell disease
  • hemoglobinopathies
  • thalassaemia
  • point-of-care testing
  • next-generation sequencing
  • follow-up

Benefits of Publishing in a Special Issue

  • Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
  • Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
  • Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
  • External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
  • Reprint: MDPI Books provides the opportunity to republish successful Special Issues in book format, both online and in print.

Further information on MDPI's Special Issue policies can be found here.

Published Papers (3 papers)

Download All Papers
Order results
Result details
Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:

Research

Jump to: Review

13 pages, 556 KB  
Article
Evaluation of Implementation of Newborn Screening for Sickle Cell Disease Program in Selected Hospitals in Dar es Salaam, Tanzania
by Tunganege Matipa, Elia Nyangi, Agnes Jonathan, Mwashungi Ally, Lulu Chirande, Asteria Mpoto, Emmanuel Balandya and Gladys Reuben Mahiti
Int. J. Neonatal Screen. 2026, 12(2), 24; https://doi.org/10.3390/ijns12020024 - 15 Apr 2026
Viewed by 551
Abstract
Sickle cell disease (SCD) is a major public health concern in Tanzania where approximately 11,000 children are born with the condition annually. Newborn screening (NBS) enables early diagnosis and timely intervention. Despite the proven effectiveness of NBS in reducing early mortality from SCD, [...] Read more.
Sickle cell disease (SCD) is a major public health concern in Tanzania where approximately 11,000 children are born with the condition annually. Newborn screening (NBS) enables early diagnosis and timely intervention. Despite the proven effectiveness of NBS in reducing early mortality from SCD, implementation in Tanzania remains limited to pilot programs at facilities such as Temeke and Amana Regional Referral Hospitals (RRHs) in the city of Dar-es-salaam. This study evaluated the implementation of NBS for the SCD Program at Temeke and Amana RRHs. An explanatory mixed-methods process evaluation was conducted between January 2022 and December 2024. Quantitative data were extracted from hospital registries and REDCap, while qualitative data were obtained from key informant interviews with 17 healthcare workers. Quantitative data were analyzed using SPSS v29.0, while qualitative transcripts were thematically analyzed using NVivo software version 15 to explore operational factors influencing implementation. A total of 10,711 newborns were screened across the two hospitals. Seventy-four (0.70%) newborns had homozygous SCD (HbS/S), whereas 1325 (12.53%) had sickle cell trait (HbA/S). Enrolment of infants diagnosed with SCD into comprehensive care declined substantially over time, from 65.6% in 2022 to 10.5% in 2024 at Temeke RRH, while Amana RRH recorded no enrolments beyond the first year of implementation. Qualitative findings highlighted facilitators for NBS such as maternal awareness, interdepartmental collaboration, and the availability of trained staff. However, implementation was hindered by inadequate refresher training, delayed staff incentives, supply shortages, and parental hesitancy influenced by cultural beliefs. This evaluation found a substantial decline in enrolment of newborns diagnosed with SCD into comprehensive care, driven by key operational challenges. Although early implementation benefited from trained, committed staff and interdepartmental collaboration, sustainability was limited by inadequate refresher training, delayed incentives, supply shortages, and parental hesitancy. Addressing these gaps through regular capacity building, strengthened supply chains, timely incentives, and culturally sensitive community education is critical to improving enrolment, continuity of care, and informing national scale-up of NBS for SCD in Tanzania. Full article
(This article belongs to the Special Issue Newborn Screening for Sickle Cell Disease Between Point of Care Testing and Next Generation Sequencing – An Impossible Choice or Not?)
►▼ Show Figures

Figure 1

Review

Jump to: Research

21 pages, 1995 KB  
Review
Birth Prevalence of Sickle Cell Disease in India: A Systematic Review and Meta-Analysis
by Emine A. Rahiman, Rajendra Prasad Anne and Rajasekharan P. Warrier
Int. J. Neonatal Screen. 2026, 12(1), 10; https://doi.org/10.3390/ijns12010010 - 25 Feb 2026
Viewed by 1275
Abstract
Newborn screening helps identify sickle cell disorder (SCD) early and to promptly initiate effective measures. It is estimated that India accounts for approximately 16% of global annual births with SCD. Multiple reports of screening for SCD in India have emerged in the last [...] Read more.
Newborn screening helps identify sickle cell disorder (SCD) early and to promptly initiate effective measures. It is estimated that India accounts for approximately 16% of global annual births with SCD. Multiple reports of screening for SCD in India have emerged in the last decade. Our aim was to pool the birth prevalence of SCD and sickle cell trait (SCT). A systematic review of published evidence on nontargeted, universal screening for SCD or SCT in newborns was performed (16 studies). The pooled prevalence of SCD was 1100 per 100,000 (10 studies, 88,276 neonates, 95% CI: 432, 1768), while that of SCT was 9639 per 100,000 (7 studies, 72,702 neonates, 95% CI: 6283, 12,995) in endemic regions. Limited data exist from nonendemic regions. Only three studies had data on follow-up and confirmatory genetic diagnosis. Sparse data exist on cost-effectiveness, long-term follow-up, and the impact of early screening on mortality. Concerted ongoing efforts in the identification of the burden are needed. The needs of the hour are universalization of NBS, integration into existing health systems, and maintenance of birth cohorts with early introduction of penicillin prophylaxis, hydroxyurea, parental education, appropriate immunization, and continued follow-up by an experienced medical team. Full article
(This article belongs to the Special Issue Newborn Screening for Sickle Cell Disease Between Point of Care Testing and Next Generation Sequencing – An Impossible Choice or Not?)
►▼ Show Figures

Figure 1

26 pages, 431 KB  
Review
Newborn Screening for Hemoglobinopathies and Thalassemias: Brief History, Recent Activities, and Global Status—2026
by Bradford L. Therrell, Jr.
Int. J. Neonatal Screen. 2026, 12(1), 8; https://doi.org/10.3390/ijns12010008 - 17 Feb 2026
Viewed by 2019
Abstract
Newborn bloodspot screening (NBS) began in Guthrie’s laboratory in 1961 for phenylketonuria. A federal study the following year formed the basis for expanding NBS as a public health function. Diseases detectable through NBS gradually expanded, eventually including sickle cell anemia, which was included [...] Read more.
Newborn bloodspot screening (NBS) began in Guthrie’s laboratory in 1961 for phenylketonuria. A federal study the following year formed the basis for expanding NBS as a public health function. Diseases detectable through NBS gradually expanded, eventually including sickle cell anemia, which was included in the screening panel in New York in 1975. Universal inclusion of full population screening for sickle cell anemia was included in all US NBS programs by 2006. Through the years, NBS for sickle cell anemia has expanded to include other clinically significant hemoglobin disorders (both hemoglobinopathies and thalassemias). While NBS programs exist in most high-income countries, their implementation in low- and middle-income settings has been slow, with the inclusion of hemoglobin disorders occurring even more slowly. It is particularly noteworthy that the low-resource settings with the highest incidences of sickle cell diseases (Sub-Saharan Africa, the Caribbean Islands, and India) and therefore the greatest potential for benefitting from NBS, continue to struggle with its implementation. Recent advances in curative treatments further emphasize the importance of NBS in early disease identification. This report reviews some of the history of newborn screening for hemoglobinopathies and thalassemias and provides an update of related activities currently ongoing globally. Full article
(This article belongs to the Special Issue Newborn Screening for Sickle Cell Disease Between Point of Care Testing and Next Generation Sequencing – An Impossible Choice or Not?)
Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:
 
Displaying articles 1-3
Back to TopTop