Establishing the Approach to the Diagnosis of Hemolytic Anemia in the Genetic Era: A Case Series

TL;DR

This paper presents a case series on diagnosing hemolytic anemia using modern techniques like NGS and HPLC for accurate and early treatment.

Contribution

The study proposes a refined diagnostic approach for hemolytic anemias using advanced genetic and biochemical methods.

Findings

Basic hematological tests are essential for initial evaluation of hereditary hemolytic anemias.

Hemoglobin electrophoresis is crucial for confirming hemoglobinopathy diagnoses.

Advanced techniques like NGS and HPLC improve accuracy in identifying specific types of hemolytic anemia.

Abstract

Background: Hemolytic anemia is characterized by the premature destruction of red blood cells, a condition that ranges from chronic to life-threatening. Hereditary hemolytic anemias (HHAs) encompass a broad spectrum of disorders including hemoglobinopathies, enzymopathies, and membrane disorders. In India, hemoglobinopathies, notably thalassemia and sickle cell disease, are significant health concerns contributing to high morbidity and mortality rates. Despite many cases being clinically insignificant, these disorders exert a considerable public health burden due to their prevalence. Techniques like next-generation sequencing (NGS) and high-performance liquid chromatography (HPLC) have emerged as powerful tools for identifying and diagnosing HHAs. NGS enables comprehensive genetic analysis, pinpointing mutations associated with hemoglobinopathies and other forms of hereditary anemia. HPLC allows precise quantification and characterization of hemoglobin variants, which is crucial for diagnosing hemoglobinopathies.

Aims and objectives: This study aimed to establish a refined approach for diagnosing hemolytic anemias and categorize different types of hemolytic anemia using state-of-the-art technologies for early and precise treatment interventions.

Materials and methods: This retrospective study was conducted in the Hematology Section of the Department of Pathology at Atal Bihari Vajpayee Government Medical College, Vidisha, Madhya Pradesh. The study included six patients diagnosed with hemolytic anemia based on comprehensive hematological, biochemical, and molecular evaluations.

Results: The retrospective analysis of six cases of hemolytic anemia highlighted the diagnostic approach utilized. Clinical presentations, physical examinations, routine hematological investigations, advanced diagnostic modalities, and hemoglobin electrophoresis were instrumental in identifying specific types of hemolytic anemias.

Conclusion: Despite the availability of advanced diagnostic techniques, basic hematological investigations remain the cornerstone in the initial evaluation of HHAs. Hemoglobin electrophoresis plays a pivotal role in confirming diagnoses. In some cases, subtle hematological findings necessitate thorough evaluation, including familial studies, to guide appropriate management strategies.

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