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Sickle cell disease (SCD) is a prevalent monogenic hemoglobinopathy characterized by abnormal hemoglobin (HbS) polymerization, leading to red blood cell (RBC) dysfunction and clinical heterogeneity. This chapter reviews traditional diagnostic methods, including high-performance liquid chromatography (HPLC), hemoglobin electrophoresis, solubility testing, and genetic analysis, alongside point-of-care (POC) technologies, including Gazelle Hb Variant, Sickle SCAN, HemoTypeSC, and CRISPR-based systems for early detection in resource-limited settings. It further explores functional assays for comprehensive RBC health assessment, such as ektacytometry and microfluidic platforms, including Occlusion Chip, Microfluidic Impedance Red Cell Assay (MIRCA) for deformability; Hemox Analyzer and Rapid Hemoglobin Oxygen Dissociation Assay (RHODA) for oxygen affinity; SCD Biochip and Endothelium-on-a-Chip for adhesion; and Rheology Chip for viscosity. These tools enable monitoring of disease severity, treatment efficacy (e.g., hydroxyurea, voxelotor), and personalized interventions. Challenges include standardization, neonatal POC validation, and integration of advanced technologies, such as machine learning for global SCD management.

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Advancing Sickle Cell Disease Management: Traditional Diagnostics to Comprehensive Red Blood Cell Health

  • 章节

  • 发表日期：

    2026年

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  • Rucha Natu,
  • Chiara Federici,
  • Oshin Sharma,
  • Umut Gurkan

摘要

Sickle cell disease (SCD) is a prevalent monogenic hemoglobinopathy characterized by abnormal hemoglobin (HbS) polymerization, leading to red blood cell (RBC) dysfunction and clinical heterogeneity. This chapter reviews traditional diagnostic methods, including high-performance liquid chromatography (HPLC), hemoglobin electrophoresis, solubility testing, and genetic analysis, alongside point-of-care (POC) technologies, including Gazelle Hb Variant, Sickle SCAN, HemoTypeSC, and CRISPR-based systems for early detection in resource-limited settings. It further explores functional assays for comprehensive RBC health assessment, such as ektacytometry and microfluidic platforms, including Occlusion Chip, Microfluidic Impedance Red Cell Assay (MIRCA) for deformability; Hemox Analyzer and Rapid Hemoglobin Oxygen Dissociation Assay (RHODA) for oxygen affinity; SCD Biochip and Endothelium-on-a-Chip for adhesion; and Rheology Chip for viscosity. These tools enable monitoring of disease severity, treatment efficacy (e.g., hydroxyurea, voxelotor), and personalized interventions. Challenges include standardization, neonatal POC validation, and integration of advanced technologies, such as machine learning for global SCD management.