COMPOUND HETEROZYGOUS HAEMOGLOBIN LEPORE/BETA THALASSEMIA PRESENTING AS NON-TRANSFUSION DEPENDENT THALASSEMIA: A BRIEF REPORT AND REVIEW OF LITERATURE WITH INDIAN PERSPECTIVE

Ashutosh Rath, *Sarika Singh, Deeksha Singh and Nupur Parakh

ABSTRACT

Haemoglobin Lepore is a rare structurally abnormal haemoglobin (Hb) resulting from δβ rearrangements. The compound heterozygous state of Hb Lepore/β-thalassemia may present either as β-thalassemia major or non-transfusion dependent thalassemia depending on the severity of mutation. A 2 years old boy presented to our center with fever, cough, coryza and easy fatigability for 3 months. His complete blood count revealed mild anemia and peripheral blood smear examination revealed microcytic hypochromic red blood cells, with moderate anisopoikilocytosis and nucleated RBCs, and left shift of leukocytes. High performance liquid chromatography suggested a possibility of compound heterozygous Hb Lepore/β thalassemia. Molecular studies showed father to be a carrier of beta thalassemia, and mother to be a carrier of Hb Lepore. Parents were advised for regular follow up. Compound heterozygous state of Hb Lepore/β-thalassemia in the Indian population seems to be rare due to few available case reports. If presenting as β-thalassemia major, the management guidelines can easily be followed. However, patients may present with non-transfusion dependent thalassemia as the present case, the management of which can be challenging, especially in the Indian set up. Regular follow up, early recognition of complications and avoidance of overtreatment are important in such patients.

Keywords: Haemoglobin Lepore; ?-thalassemia; Compound heterozygous Hb Lepore/?-thalassemia; Non-transfusion dependent thalassemia.