Rare occurrence of hemoglobin Lepore variant in a Palestinian patient: a case report and brief literature review

Introduction: In hemoglobinopathies, a basic lesion alters the rate of globin synthesis or the structure of the globin in healthy hemoglobin (Hb). Genetic instructions are used to synthesize the polypeptide chains that make up globin chains. The kind and extent of the structural aberration of the Hb molecule are closely related to the clinical features. Hematologically, the heterozygous form of the Lepore syndrome has a pattern resembling minor thalassemia, and electrophoretically, it is characterized by aberrant Hb Lepore fractions at a rate of 5–15% and a decreased percentage of HbA and mildly increased HbF. Clinically speaking, Hb Lepore heterozygotes patients are asymptomatic and resemble the clinical picture of patients with mild thalassemia. Case Presentation: A 28-year-old female came to our attention for assessment of generalized weakness and fatigue for a 4-month duration. Laboratory evaluation, including complete blood count, showed mild microcytic hypochromic anemia with parameters resembling the thalassemia trait. Iron profile studies were normal. Abdominal ultrasound showed mild splenomegaly. Hb electrophoresis was performed and showed an abnormal high-performance liquid chromatography pattern with an abnormal Hb band, mild elevated HbF, and mild reduction in HbA. The interpretation of the Hb electrophoresis curve suggested heterozygosity for beta chain variant Hb Lepore. Discussion and Conclusion: Hb Lepore is one of the structural Hb variants with a characteristic fusion gene between the delta and beta chains. Hematologically, the heterozygous form of the Lepore syndrome has a pattern resembling the thalassemia trait. In Palestine, the prevalence of Hb Lepore, either homozygous or homozygous state, is unknown.