Point-of-Care HemoTypeSC Shows 99.9 Percent Accuracy for Newborn Sickle Cell Screening: IJMR Study

Despite India contributing to nearly 14.5 percent of the global sickle cell burden, many infants remain undiagnosed due to the high costs and logistical hurdles of traditional high-performance liquid chromatography (HPLC). Consequently, Dr. Anita Nadkarni from the Indian Council of Medical Research (ICMR)-National Institute of Immunohaematology, Mumbai, aimed to evaluate the diagnostic accuracy of HemoTypeSC as a POC for detecting SCD in newborn screening with its feasibility in tribal and resource-poor settings.

For this purpose, the researchers conducted a prospective multicenter diagnostic accuracy study between 2019 and 2020 across six semi-urban and rural sites in five Indian states. A total of 1,725 newborns were screened using the HemoTypeSC lateral flow immunoassay (LFA) and compared against HPLC. The primary endpoints were sensitivity and specificity. The assay required only 2 microliters (µL) of blood and did not require specialized laboratory equipment.

Key Clinical Findings of the Study Include:

• SCD Detection: The study confirmed that the assay identifies sickle cell disease with a sensitivity of 93.3 percent and a perfect specificity of 100 percent.
• Trait Identification: The study validated a 96 percent sensitivity and 99.8 percent specificity for diagnosing sickle cell trait (SCT).
• Diagnostic Precision: Investigation data showed the test achieves a high diagnostic accuracy of 99.9 percent for sickle cell disease and 99.5 percent for the carrier trait.
• Inter-test Agreement: Analysis demonstrated an almost perfect agreement between the point-of-care device and laboratory standards, reflected by a Cohen’s Kappa coefficient (κ) of 0.97.
• Rapid Results: Clinical evaluation highlighted that this instrument-free test requires minimal blood and provides clear visual results within 20 minutes.

The results suggest that HemoTypeSC is a highly reliable screening tool, as evidenced by its ability to correctly detect 14 out of 15 SCD cases and 192 out of 200 sickle cell trait cases. This precision facilitates the early diagnosis necessary for life-saving interventions and improved long-term outcomes for affected infants.

The study implies that healthcare providers can implement this simple, water-based test to support the National Sickle Cell Anemia Elimination Mission, ensuring that preventive management begins at birth even in the most decentralized healthcare environments.

While the study was limited by its one-year duration and the absence of rarer phenotypes like hemoglobin S-beta-thalassemia (HbS-β-thalassemia), there is an attractive opportunity for future research to explore the tool’s efficacy across a broader spectrum of complex hemoglobin variants in diverse clinical populations.

Reference

Thaker P, Shinde N, Surve S, Gawit K, Hariharan P, Shanmugam R, et al. Diagnostic accuracy of HemoTypeSC for detecting sickle cell disease in newborns: A multicentric study. Indian J Med Res 2025; 162: 399-403.