Gurpreet Kaur Sagoo: Why Thalassemia Is Hard to Diagnose
Gurpreet Kaur Sagoo, Professor at Armed Forces Medical College, shared a post on LinkedIn about a recent article she and her colleagues co-authored, published in Medical Journal Armed Forces India, adding:
“Diagnosing thalassemia syndromes presents several key challenges due to overlapping symptoms, technical limitations in testing, and genetic complexities.
Screening Methods
Initial tests like red cell indices, high-performance liquid chromatography (HPLC), and capillary-zone electrophoresis (HbCZE) serve as first-line tools but often miss subtle cases.
For instance, β-thalassemia trait may show normal or borderline Hb A2 levels, especially with co-inherited α-thalassemia or concurrent mutations.
Technical Pitfalls
HPLC systems optimized for Hb A1c can overlook Hb H, Hb Barts, or Hb A2 variants due to compressed chromatograms or early elution peaks. Post-transfusion effects, such as suppressed Hb F or donor Hb peaks, further complicate patterns, while conditions like iron deficiency or hypersplenism alter indices.
Genetic Factors
Silent traits, such as α-thalassemia hidden in hemoglobinopathies or rare coinheritances (e.g., β-mutation with α-globin triplication), evade standard analysis.
Next-generation sequencing (NGS) addresses these but faces high costs and limited availability.
Clinical Implications
Timely diagnosis is critical for lifelong management, including transfusions, yet missed cases delay prenatal or preimplantation testing. Population-specific approaches and comprehensive testing reduce errors.”
Title: Challenges in diagnosis of thalassemia syndromes
Authors: Gurpreet Kaur, Tathagata Chatterjee, Ankur Ahuja, Arjit Sen
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