Hemoglobin Lepore is a rare variant of structurally abnormal hemoglobin. Homozygous hemoglobin Lepore is even more rare. We describe a case of homozygous hemoglobin Lepore in a 4-year 8-month-old boy. He presented with a thalassemia intermedia-like presentation. His diagnosis was confirmed by family screening with high-performance liquid chromatography (HPLC) and genetic testing. Homozygous hemoglobin Lepore can present as thalassemia intermedia. It can be a diagnostic dilemma if only patient's HPLC is reported. Genetic testing and family screening aid to identify and confirm this uncommon variant of hemoglobin.
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Sonowal et al. (2024) studied this question.
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