Homozygous hemoglobin Lepore disease in a child: a case report

Background Hemoglobin Lepore is a rare variant of structurally abnormal hemoglobin. Homozygous hemoglobin Lepore is even more rare. Case report Here we describe a case of homozygous hemoglobin Lepore in a 4-year 8-month-old boy. He presented to us with a thalassemia intermedia-like presentation. His diagnosis was confirmed by family screening with high-performance liquid chromatography and genetic testing. Conclusion Homozygous hemoglobin Lepore can present as Thalassemia intermedia. This can give a diagnostic dilemma if only patient’s HPLC is seen. Genetic testing and family screening help us to identify and confirm this uncommon variants of hemoglobin.