Recent advances in screening and diagnosis of hemoglobinopathy

Expert Rev Hematol. 2020 Jan;13(1):13-21. doi: 10.1080/17474086.2019.1656525. Epub 2019 Dec 22.


Introduction: Hemoglobinopathies are important causes of inherited disorders with substantial mortality and morbidity across the world. Therefore, proper utilization of available screening and diagnostic techniques are important for its diagnosis and management.Areas covered: In this review, the authors attempt to summarize clinical presentations, give a brief account of existing techniques, and discuss evolving and advanced techniques for detection and screening of the condition. As prevention of the disease condition is an important community measure to control the disease, techniques involving newborn screening, antenatal diagnosis, and point of care tests have been described in addition to more advanced molecular and protein diagnostics. The literature search in this area is covered between 1980 and 2018 with PubMed as the main source along with authors' own research in this area.Expert opinion: Screening and detection of hemoglobinopathy is best accomplished by a hierarchical approach with the optimum blend of old and newer techniques. Starting with point of care techniques through the commonly used HPLC and high voltage capillary electrophoresis, or modern and high throughput molecular biology and mass spectroscopic techniques can be used depending on specific situations. Every country needs to optimize its techniques depending on the frequency of the problem and available resources.

Keywords: HPLC; Hemoglobinopathy; capillary electrophoresis; electrophoresis; isoelectric focusing; mass spectroscopy; molecular techniques; neonatal screening; sequencing; thalassemia.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review
  • Video-Audio Media

MeSH terms

  • Female
  • Hemoglobinopathies / diagnosis*
  • Humans
  • Infant, Newborn
  • Neonatal Screening*
  • Pregnancy
  • Prenatal Diagnosis*