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Homozygous Lepore Syndrome: A case report
Amrit Bhusal1, Silan Bhandari1, Tulika Seth2
1BP Koirala Institute of Health Sciences, Nepal.
Annals of Medicine and Surgery (2012)
|September 1, 2022
Summary
Lepore hemoglobin is a rare abnormal hemoglobin variant. High-Performance Liquid Chromatography (HPLC) effectively differentiates it from beta-thalassemia, aiding in diagnosing hemolytic anemia.
Area of Science:
- Hematology
- Molecular Biology
- Clinical Diagnostics
Background:
- Lepore hemoglobin (Hb Lepore) is a structurally abnormal hemoglobin characterized by a hybrid globin chain, fusing delta (δ) and beta (β) globin sequences.
- The reduced synthesis of these hybrid chains leads to a deficiency in non-alpha globin chains, clinically manifesting as hemolytic anemia.
Observation:
- Distinct Hb Lepore bands are identifiable via cellulose acetate electrophoresis.
- High-Performance Liquid Chromatography (HPLC) provides quantitative analysis for differentiating Hb Lepore from beta-thalassemia.
Findings:
- A multi-faceted diagnostic approach, including blood counts, red cell indices, and hemoglobin analysis via electrophoresis and HPLC, is crucial for presumptive diagnosis.
- Quantitative analysis using HPLC is superior to electrophoresis for identifying and quantifying hemoglobin variants like Hb Lepore.
Implications:
- Accurate differentiation of Hb Lepore from beta-thalassemia is essential for appropriate patient management and genetic counseling.
- The study highlights the diagnostic utility of HPLC in characterizing hemoglobinopathies, particularly in distinguishing complex variants like Hb Lepore.
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