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
Stay updated on all scientific advances with Hemostasis Today.
-
Jun 26, 2026, 13:40Caylynn Carls: Why Genetic Counseling Matters in Hemophilia Treatment
-
Jun 26, 2026, 13:25Ángel Cabrera: Clotting Disorders Behind Heavy Menstrual Bleeding
-
Jun 26, 2026, 13:02Turid Kjellevold: The Critical Role of Timely Hemostasis Testing
-
Jun 26, 2026, 10:59Wolfgang Miesbach: How Clonal Hematopoiesis May Explain Age-Related Mitochondrial Mutations
-
Jun 26, 2026, 10:52Chinua Onyebuchi: The Future of Stroke Care in Africa Lies in Strong Health Systems
-
Jun 26, 2026, 10:35Habtamu Milkias Wolde: New Insights into Stroke and Traumatic Brain Injury from Global Burden of Disease Data
-
Jun 26, 2026, 10:19Rytis Masiliūnas: Atrial Fibrillation and Stroke Care Disparities Across the Baltic Region
-
Jun 26, 2026, 10:11Kayla Kilani: First-Ever CT Perfusion Scan Performed Inside a Mobile Stroke Unit
-
Jun 26, 2026, 07:38Baraa Nassar: High Clinical Suspicion Is Essential for Early Diagnosis of CVST