HemoTypeSC, a low-cost point-of-care testing device for sickle cell disease: Promises and challenges

Blood Cells Mol Dis. 2019 Sep:78:22-28. doi: 10.1016/j.bcmd.2019.01.007. Epub 2019 Feb 8.

Abstract

Background: Sickle cell disease (SCD) is a neglected burden of growing importance. >312,000 births are affected annually by sickle cell anaemia (SCA). Early interventions such as newborn screening, penicillin prophylaxis and hydroxyurea can substantially reduce the mortality and morbidity associated with SCD. Nevertheless, their implementation in African countries has been mostly limited to pilot projects. Recent development of low-cost point-of-care testing (POCT) devices for sickle haemoglobin (HbS) could greatly facilitate the diagnosis of those affected.

Methods: We conducted the first multi-centre, real-world assessment of a low-cost POCT device, HemoTypeSC, in a low-income country. Between September and November 2017, we screened 1121 babies using both HemoTypeSC and HPLC and confirmed discordant samples by molecular diagnosis.

Findings: We found that, in optimal field conditions, the sensitivity and specificity of the test for SCA were 93.4% and 99.9%, respectively. All 14 carriers of haemoglobin C were successfully identified. Our study reveals an overall accuracy of 99.1%, but also highlights the importance of rigorous data collection, staff training and accurate confirmatory testing. It suggests that HPLC results might not be as reliable in a resource-poor setting as usually considered.

Interpretation: The use of such a POCT device can be scaled up and routinely used across multiple healthcare centres in sub-Saharan Africa, which would offer great potential for the identification and management of vast numbers of individuals affected by SCD who are currently undiagnosed.

Funding us: Imperial College London's Wellcome Trust Centre for Global Health Research (grant #WMNP P43370).

Keywords: HemoTypeSC; Low-cost; Newborn screening; Point-of -care -test devise; Sickle cell disease.

Publication types

  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Anemia, Sickle Cell / blood*
  • Anemia, Sickle Cell / diagnosis*
  • Anemia, Sickle Cell / genetics
  • Child, Preschool
  • Female
  • Gene Frequency
  • Genotype
  • Hematologic Tests* / economics
  • Hematologic Tests* / methods
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Neonatal Screening
  • Point-of-Care Testing* / economics
  • Point-of-Care Testing* / standards
  • Reproducibility of Results
  • Sensitivity and Specificity
  • beta-Globins / genetics
  • beta-Globins / metabolism

Substances

  • beta-Globins