A case report of homozygous Hemoglobin Lepore in a child born to nonconsanguineous parents

Abstract

Thalassemia comprises a heterogeneous group of inherited disorders characterized by defective synthesis of hemoglobin’s globin chains. Among the rare variants, Hemoglobin Lepore syndrome is an uncommon autosomal recessive disorder caused by an abnormal fusion of the delta and beta globin chains. Diagnosing this condition, particularly among individuals born to nonconsanguineous parents, poses significant clinical and diagnostic challenges, as demonstrated in the present case. A 6-year-old male child from Ganjam district, Odisha, India, presented with severe anemia, fever, fatigue, weight loss, abdominal distension, and hepatosplenomegaly. The child was born to nonconsanguineous parents and had no prior history of blood transfusion. Detailed evaluation of the patient’s blood samples and those of his parents confirmed the diagnosis of homozygous Hemoglobin Lepore. Clinical examination, complete blood count, peripheral blood smear, ultrasonography, hemoglobin electrophoresis, and high-performance liquid chromatography (HPLC) were conducted. India bears a substantial burden of thalassemia, underscoring the need for effective prevention and control strategies to reduce its public health impact. Hemoglobin Lepore exhibits variable clinical manifestations. While heterozygous individuals are usually asymptomatic, homozygous individuals may present with clinical features resembling those of β -thalassemia major or intermedia. Accurate diagnosis is essential for appropriate management and genetic counseling. It depends on advanced diagnostic modalities such as HPLC, which enables precise characterization and differentiation from other hemoglobinopathies. Identification of characteristic peaks on the HPLC chromatogram helps distinguish heterozygous from homozygous states and guide treatment decisions. Early and accurate diagnosis, along with premarital counseling, plays a crucial role in reducing the burden of thalassemia.