Hemoglobinopathy diagnosis in LMICs: from hematological screening to molecular confirmation

Abstract

Hemoglobinopathy diagnosis in low- and middle-income countries (LMICs) is limited not only by access to technology but also by attrition between screening, phenotypic resolution, molecular confirmation, counseling, and linkage to care. India illustrates this problem: national guidance distributes screening, high-performance liquid chromatography (HPLC), and molecular services across district, regional, and tertiary levels, making inter-facility referral intrinsic when advanced testing is unavailable locally. Families may consequently face test charges, travel, wage loss, repeat sampling, delayed results, and incomplete partner or family testing. This Mini Review integrates evidence from India with diagnostic models from Bangladesh, Sri Lanka, Thailand, Indonesia, and Ghana. We examine hematological triage, the limitations of HPLC and electrophoretic methods, indications for selective molecular testing, and the structural, financial, and sociocultural causes of late or incomplete diagnosis. We propose a three-level diagnostic model supported by standardized interpretive reporting, specimen networks, active recall, local-language counseling, and measurable completion indicators. The objective is not universal sequencing, but reliable conversion of every abnormal screen into an actionable individual and familial diagnosis, supported by cascade screening and selective molecular confirmation of rare or complex genotypes that cannot be resolved phenotypically cannot be resolved phenotypically.

The authors' abstract, as published at the source. Frontiers in Genetics, 2026 · DOI ↗